What is thrombocytopenia? What causes it? What are the symptoms? How is it diagnosed and treated? Get the answers to these questions and more in this comprehensive guide.

Understanding Thrombocytopenia: Symptoms, Causes, and Treatment

Thrombocytopenia is a condition characterized by a low platelet count in the blood. Platelets are crucial for blood clotting, and when their numbers are low, it can lead to excessive bleeding and bruising. In this article, we’ll delve into the symptoms, causes, diagnosis, and treatment of thrombocytopenia.

What is Thrombocytopenia?

Thrombocytopenia is a medical term that refers to a low platelet count. Platelets, also known as thrombocytes, are small blood cells that play a crucial role in the clotting process. A healthy individual typically has a platelet count ranging from 150,000 to 400,000 per microliter (μL) of blood. When the platelet count falls below 150,000 per μL, it is considered thrombocytopenia.

Causes of Thrombocytopenia

Thrombocytopenia can have various causes, including:

• Immune Thrombocytopenia (ITP): In this condition, the immune system mistakenly attacks and destroys the body’s own platelets.
• Viral Infections: Certain viral infections, such as chickenpox, hepatitis C, HIV, and Epstein-Barr virus, can lead to thrombocytopenia.
• Systemic Lupus Erythematosus (SLE): This autoimmune disorder can cause the immune system to attack and destroy platelets.
• Chronic Lymphocytic Leukemia (CLL): This type of cancer can disrupt the production of platelets.
• Medications: Some medications, such as certain heart drugs, seizure medications, and heparin (a blood thinner), can increase the risk of thrombocytopenia.
• Other Medical Conditions: Thrombocytopenia can also be a complication of conditions like sepsis, liver disease, and bone marrow disorders.

Symptoms of Thrombocytopenia

Many people with thrombocytopenia do not experience any symptoms, as the condition is often detected during routine blood tests. However, when symptoms do occur, they may include:

• Bleeding and Bruising: Easy bruising, nosebleeds, bleeding gums, and heavy or prolonged menstrual periods.
• Petechiae: Small, red or purple spots on the skin caused by tiny blood vessel leaks.
• Severe Bleeding: In cases of severe thrombocytopenia (platelet count below 20,000 per μL), spontaneous bleeding, including gastrointestinal bleeding and hemorrhagic stroke, can occur.

Diagnosing Thrombocytopenia

Thrombocytopenia is typically diagnosed through a series of tests, including:

• Complete Blood Count (CBC): This test measures the levels of different blood cells, including platelets.
• Blood Smear: A sample of blood is examined under a microscope to assess the appearance and number of platelets.
• Bone Marrow Aspiration or Biopsy: In some cases, a small sample of bone marrow is extracted and examined to determine the cause of the low platelet count.

Treatment for Thrombocytopenia

The treatment for thrombocytopenia depends on the underlying cause and the severity of the condition. Potential treatment options include:

• Corticosteroids: These medications can help increase the platelet count by reducing the immune system’s attack on platelets.
• Intravenous Immunoglobulin (IVIG): This treatment can temporarily increase platelet levels by blocking the immune system’s destruction of platelets.
• Thrombopoietin Receptor Agonists: These medications stimulate the production of platelets in the bone marrow.
• Splenectomy: In some cases, removing the spleen (which can contribute to the destruction of platelets) may be recommended.
• Treating Underlying Conditions: If thrombocytopenia is caused by another medical condition, treating the underlying condition may help improve the platelet count.

Managing Thrombocytopenia

In addition to specific treatments, people with thrombocytopenia may need to take certain precautions to manage their condition, such as:

• Avoiding Activities that Can Cause Bleeding: This may include contact sports, activities that increase the risk of falls, and using soft-bristled toothbrushes.
• Maintaining Good Oral Hygiene: Regular dental checkups and gentle brushing can help prevent gum bleeding.
• Monitoring and Reporting Bleeding or Bruising: Patients should be vigilant about any unusual bleeding or bruising and report it to their healthcare provider.
• Avoiding Certain Medications: Patients should work with their healthcare provider to identify and avoid medications that may further reduce their platelet count.

Prognosis and Support

The prognosis for individuals with thrombocytopenia can vary depending on the underlying cause and severity of the condition. Many people with mild thrombocytopenia can manage their condition with proper treatment and lifestyle modifications. However, in severe cases, thrombocytopenia can lead to life-threatening bleeding and complications.

If you or a loved one has been diagnosed with thrombocytopenia, it’s important to work closely with your healthcare team to develop a comprehensive treatment plan. Additionally, connecting with support groups and educational resources can provide valuable information and emotional support during the management of this condition.

Thrombocytopenia and ITP: Causes, Symptoms, and Treatment

Written by Matthew Hoffman, MD

• Causes
• Symptoms
• Getting a Diagnosis
• Questions for Your Doctor
• Treatment
• Taking Care of Yourself
• What to Expect
• Getting Support
• More

If you have thrombocytopenia, you don’t have enough platelets in your blood. Platelets help your blood clot, which stops bleeding.

For most people, it’s not a big problem. But if you have a severe form, you can bleed spontaneously in your eyes, gums, or bladder or bleed too much when you’re injured.

A healthy person usually has a platelet count of 150,000 to 400,000. You have thrombocytopenia if your number falls under 150,000.

If you’re wondering what the long name means, here’s how it breaks down: “Thrombocytes” are your platelets, and “penia” means you don’t have enough of something. Put those terms together, and you get “thrombocytopenia. “

Thrombocytopenia has many causes. One of the most common causes of low platelets is a condition called immune thrombocytopenia (ITP). You may hear it called by its old name, idiopathic thrombocytopenic purpura. Although doctors don’t know what causes primary ITP, they know that it happens when your immune system — your body’s main defense against disease — doesn’t work right. Your antibodies, which are supposed to attack infections, instead mistakenly destroy your platelets.

Thrombocytopenia can run in families, but you can also get it from many medical conditions. Treating the medical condition may improve ITP.

Secondary ITP happens when ITP is linked to another condition, such as:

• Viral infections (including chickenpox, parvovirus, hepatitis C, Epstein-Barr, and HIV)
• Systemic lupus erythematosus (SLE)
• Chronic lymphocytic leukemia (CLL)
• Drug-induced immune thrombocytopenia
• Sepsis, a severe bacterial infection in your blood
• Helicobacter pylori (H. pylori), a bacteria that can live in your digestive system

Medicines Linked to ITP

Some medicines can increase your risk of ITP, such as:

• Certain drugs for heart problems, seizures, and infections
• Heparin, a blood thinner used to prevent blood clots

Work with your doctor to figure out if a drug is causing your platelet count to drop. They may be able to adjust your dose or change your medication.

Other Treatments Linked to ITP

• Heart bypass surgery
• Radiation treatment on your bone marrow

Usually, thrombocytopenia has no symptoms. But when you do have them, they can include:

• Bleeding, most often from the gums or nose. Women with thrombocytopenia may have heavier or longer periods or breakthrough bleeding. You may also see blood in your pee or poop.
• Blotches and bruises. You might have large areas of bleeding under the skin that don’t turn white when you press on them. You also might see what looks like the bruises you get from a bump or being hit. They could be blue or purple and change to yellow or green over time. These are caused from the inside, by the sudden leaking from tiny blood vessels. The medical name for these is purpura.
• Red, flat spots on your skin, about the size of a pinhead. You see these mostly on your legs and feet, and they may appear in clumps. Your doctor may call them petechiae. Petechiae don’t blanch white when you put pressure on them.
• Life-threatening hemorrhage from the GI tract or internal bleeding. This is caused by having a platelet value of under 20K which can cause spontaneous bleeds, including brain hemorrhage. 
• Hemorrhagic strokes (CVAs) with high morbidity and mortality. Also caused by having a platelet value of under 20K which can cause spontaneous bleeds.  

Severe thrombocytopenia can cause a lot of bleeding after an injury, such as a fall.

Thrombocytopenia is often found by chance when your doctor does a routine blood test. They might ask you:

• What symptoms (including bleeding) have you noticed?
• When did you first see them?
• Does anything make them better? Or worse?
• What medications and supplements are you taking?
• Have you had any shots in the last month, a blood transfusion, or used drugs with a needle?
• Does anyone in your family have a problem with their immune system, bleeding, or bruising?
• What have you eaten recently?

Your doctor may do a physical exam to check you for signs of bleeding and feel if your spleen seems big.

Some tests check for low platelet levels:

• CBC (complete blood count). This measures the amount of your red and white blood cells and platelets.
• Blood smear. This shows how your platelets look under a microscope.
• Bone marrow test. Your doctor uses a very fine needle to draw a small amount of liquid bone marrow and check it for cells that may not be working right. Or you may get a biopsy, using a different kind of needle, so your doctor can check the types and numbers of cells in the bone marrow.

You may need more tests to help your doctor figure out what’s going on.

• What’s causing the problem?
• What are my treatment options? Which do you recommend?
• Do these treatments have side effects? What can I do about them?
• How will we know if the treatment is working?
• When will I start to feel better?
• What do you expect for my case?
• Does this condition put me at risk for anything else?
• Do I need to see a specialist?
• How am I monitored? 
• How do I know if my platelets drop at home?

There are a lot of treatment options for thrombocytopenia and ITP. You’ll need to work with your doctor to weigh the pros and cons of each and find a therapy that’s right for you.

If you have ITP, your treatment depends on how severe a case you have. If it’s mild, you may only need to get regular checks of your platelet levels.

When you do need treatment, the goal is to get your platelet count to a level that’s high enough to prevent serious bleeding in the gut or brain. 

A platelet transfusion is needed if there is immediate life-threatening bleeding if you are asymptomatic with platelets under 20, thousand given high risk for a bleed or if you are pregnant. 

Some people get treatment when they have symptoms and some are recommended treatment even when they feel fine because they are at high risk for a spontaneous bleed. 

Your doctor will likely suggest these treatments for ITP first:

Corticosteroids.Dexamethasone or prednisone is typically prescribed to raise your platelet count. You take it once a day in the form of a pill or tablet. An increased or normalized platelet count is generally seen within 2 weeks of therapy, particularly with high-dose dexamethasone. Your doctor will then likely cut your dose gradually over the next 4 to 8 weeks. The treatment may have to be repeated, but once your platelet count is normal, none is needed again.

There are some side effects to prednisone, especially if you use it for a long time. Even after a short time, you can get irritable, have stomach upsets, and have other problems such as:

• Sleep problems
• Weight gain
• Puffy cheeks
• Peeing a lot
• Lower bone density
• Acne

Besides side effects, another disadvantage to prednisone is that your platelet count may drop once you’ve finished your treatment.

IVIG (intravenous immune globulin). If you can’t get your platelet count up with prednisone, if you cannot tolerate steroids, or if your count drops after you’re done with your treatment, your doctor may suggest IVIG. You take this medication through an IV, usually for several hours a day for 1 to 5 days.

The advantage of IVIG is that it can raise your platelet count quickly. But the increase in platelets is only temporary. It is useful for people who need to get their levels boosted fast or who cannot tolerate steroids. The side effects include:

• Nausea and vomiting
• Headaches
• Fever and chills

Surgery. If you have ITP and other treatments haven’t raised your platelet levels enough, you may benefit from an operation to remove your spleen. That’s the organ that destroys your platelets, so taking it out can give your platelet count a boost. But this doesn’t always work.

Getting your spleen removed can make it harder for you to fight infections. Your infection risk is greatest in the first 3 months after your surgery.

Rituximab (Rituxan). This drug is a type of treatment known as biologic therapy. It attacks B cells, a type of white blood cell that can destroy platelets. It’s sometimes used if you have severe ITP despite treatment with steroids and you aren’t able to have surgery to remove your spleen. Your doctor may also suggest it if you’ve had your spleen removed but you still have low platelet counts.

Side effects for rituximab include:

• Fever
• Chills
• Weakness
• Nausea
• Headaches
• Weakened immune system

Rho(D) immune globulin. This treatment, which you also take through an IV, is an alternative to traditional IVIG in people who have Rh+ blood. It generally takes less than half an hour. The side effects are similar to IVIG.

If corticosteroids, IVIG, and Rho(D) aren’t improving your platelet count and you’re having bleeding problems, your doctor may switch to a second set of options. There are pros and cons for each. They include:

Thrombopoietin (TPO) receptor agonists. These drugs are also called platelet growth factors. If you have severely low platelets even after treatment with steroids, surgery to remove the spleen, or rituximab, you will likely do well on these medicines, but you may need to take them long-term.

A TPO drug may also be used in someone who needs a boost in platelet count for a period of time, such as during an acute bleeding episode, in preparation for elective surgery, or while deciding about, planning, or awaiting a splenectomy.

Three TPO drugs are available and include: avatrombopag (Doptelet)., eltrombopag (Promacta), and romiplostim (Nplate).

Eltrombopag is a once-daily pill, romiplostim is taken by shot once a week,  and avatrombopag (Doptelet) is taken once a day and then the dose is adjusted to your platelet count.

They get your bone marrow to make more platelets. Side effects include nausea, vomiting, headache, and a higher chance of getting blood clots.

If you’ve tried those and still can’t get your platelet count to the right level, your doctor may suggest these medicines:

A newer drug called fostamatinib (Tavalisse), a spleen tyrosine kinase inhibitor, is designed to treat thrombocytopenia in adults with chronic ITP who haven’t gotten better with other treatments. The initial dose is a pill twice a day.

Immunosuppressants, such as azathioprine (Imuran), cyclosporine, and mycophenolate mofetil (CellCept). They work by keeping your immune system in check.

Androgens, such as danazol (Danocrine). It’s not used in women because it can cause unwanted hair growth called hirsutism.

Vinca alkaloids, such as vinblastine, vincristine (Vincasar), and, rarely, cyclophosphamide (Cytoxan). Doctors sometimes suggest these if you’re having severe bleeding and your platelet count isn’t getting a boost from other treatments.

You can still do a lot of things, but you may need to make some changes to your lifestyle to prevent getting hurt or cut. For instance, avoid sports such as football and downhill skiing.

Eat a healthy diet with lots of fruits and vegetables, especially leafy greens, to give your body the nutrients it needs. Ask your doctor if you should avoid food with quinine and aspartame, like tonic water, bitter lemon, bitter melon, some diet sodas, and sugar-free foods.

You probably shouldn’t take medicines that make bleeding easier, such as aspirin and ibuprofen, or other NSAIDS like naproxen or Aleve.

Check with your doctor to see if it’s OK for you to drink alcohol and if it is, how much.

Your case may be different from someone else’s. Your doctor will watch you to see how you’re doing. If your case is mild, you may not need any treatment. But even people who do need treatment can lead full lives.

Find out as much as you can about your condition so you can best manage it.

The Platelet Disorder Support Association has information about ITP and ways to connect with others who also have it.

Top Picks

Low Platelet Count (Thrombocytopenia)

Having a low platelet count can affect your blood’s ability to clot. This can result in uncontrolled bleeding, which can sometimes require immediate medical attention.

Blood is made up of several types of cells which float in a liquid called plasma. The types of blood cells are:

• red blood cells
• white blood cells
• platelets (also called thrombocytes)

When your skin is injured or broken, your platelets clump together and form clots to stop the bleeding. When you don’t have enough platelets in your blood supply, your body can’t form clots.

A low platelet count is called thrombocytopenia. This condition can range from mild to severe, depending on its underlying cause. Some people with thrombocytopenia may not experience any symptoms; for more severe cases, uncontrollable bleeding can result in death.

Thrombocytopenia can be caused by a range of factors such as pregnancy, medical conditions such as leukemia, or certain medications (such as blood thinners). As a result, there are multiple treatment options for thrombocytopenia which may differ depending on the root cause of the condition.

Whether or not you experience symptoms of thrombocytopenia may depend on how low your platelet count is.

If you have a low platelet count, you may experience:

• red, purple, or brown bruises, called purpura
• a rash with small red or purple dots, called petechiae
• nosebleeds
• bleeding gums
• bleeding from wounds that lasts for a prolonged period or doesn’t stop on its own
• heavy menstrual bleeding

In more severe cases, you may bleed internally. Symptoms include:

• blood in your stool
• blood in your urine
• bloody or very dark vomit

If you experience any signs of internal bleeding, seek immediate medical attention.

In rare cases, thrombocytopenia may lead to bleeding in your brain. Talk to a healthcare professional if you have a low platelet count and experience headaches or neurological problems.

There are many potential causes of low platelet count, including:

Bone marrow issues

Your bone marrow is the spongy tissue inside the bone where all the components of blood, including platelets, are produced. There are multiple reasons why a person’s bone marrow may not create enough platelets, such as:

• aplastic anemia
• certain vitamin deficiencies such as vitamin B12, folate, and iron
• viral infections, including HIV, Epstein-Barr, mumps, rubella, and chickenpox
• exposure to chemotherapy, radiation, or toxic chemicals
• consuming too much alcohol
• cirrhosis
• certain types of cancers such as leukemia and lymphoma
• myelodysplasia
• Genetic conditions such as May-Hegglin and Wiskott-Aldrich syndromes

Platelet destruction

Platelets live about 7-10 days in people without thrombocytopenia. A low platelet count can be a result of the body destroying too many platelets too quickly. Some reasons a body might destroy its platelets include:

• side effects of certain medications, including diuretics, some antibiotics, blood thinners, and anti-seizure medications
• an enlarged spleen
• autoimmune disorders such as immune thrombocytopenia (ITP), lupus, or rheumatoid arthritis
• pregnancy, especially in the final weeks before delivery
• a bacterial infection in the blood
• rare serious conditions such as thrombotic thrombocytopenic purpura, hemolytic uremic syndrome, and disseminated intravascular coagulation
• surgery. Platlets can be destroyed when passing through machines used for bypass surgery or blood transfusions, as well as human-made heart valves.

If you think you may be experiencing symptoms of low platelet count, talk to a healthcare professional — especially if you’re experiencing serious symptoms, such as wounds or cuts that won’t stop bleeding, or blood in your stools or urine.

It’s also important to be checked regularly if you are at risk of developing thrombocytopenia due to a medical condition, family history, or medication.

Physical examination

If your doctor suspects a low platelet count, they will first do a physical exam. Your doctor will check your body for unusual bruising or evidence of petechiae (small red and purple dots), which is a sign of capillary bleeding that often accompanies a low platelet count.

Your doctor may also feel your abdomen to check for an enlarged spleen or liver.

Medical history

Your doctor may also ask about the following:

• if you have a family history of bleeding disorders
• medications that you take
• herbal supplements that you take
• your eating patterns
• alcohol intake and IV drug use
• current sex protection methods

If you are diagnosed with low platelet count, this information can help your healthcare professional treat your condition effectively.

Tests

There are multiple blood, bone marrow, and ultrasound tests that can help your doctor diagnose this condition and determine the underlying cause.

Blood tests

To diagnose low platelet count, your doctor will need to do a complete blood count (CBC) test. This test is often performed with a simple blood draw in your arm.

A CBC test looks at the number of blood cells in your blood. It will tell your doctor if your platelet count is lower than it should be. A typical platelet count will range between 150,000 and 450,000 platelets per milliliter of blood.

Your doctor may also choose to perform a blood smear test, which looks at your blood under a microscope to see how the platelets look.

You blood may also be tested for platelet antibodies. These are proteins that destroy platelets. Platelet antibodies can be produced as a side effect of certain drugs, such as heparin, or for unknown reasons.

Blood-clotting tests, including partial thromboplastin time and prothrombin time, may also be ordered. These tests require a sample of your blood. Certain chemicals are added to the sample to determine how long it takes your blood to clot.

Ultrasound

If your doctor suspects that your spleen is enlarged, they may order an ultrasound. This test uses sound waves to make a picture of your spleen.

Bone marrow aspiration and biopsy

A bone marrow test may also be performed. There are two types of bone marrow tests: a biopsy and an aspiration. In some cases, both tests may be performed at the same time.

During a bone marrow aspiration, a small amount of bone marrow is removed from one of your bones.

In a bone marrow biopsy, a sample of your core bone marrow is removed, usually from the hipbone.

The treatment options for a low platelet count can vary. Your doctor or specialist will determine the appropriate treatment for low platelet counts based on the underlying cause and severity of your condition.

If the condition is mild, your doctor may choose to simply monitor you.

If your low platelet count is more severe, you may need medical treatment. Treatment options may include:

• blood or platelet transfusions
• changing medications that are causing a low platelet count
• Prescribing steroids, immune globulin, or other medicines that suppress your immune system
• spleen removal surgery

If you are at risk of developing a low platelet count, scheduling regular doctor’s visits will help you pay attention to potential signs and symptoms.

Let your doctor know about any supplements or medications you take. Also, be aware that certain over-the-counter pain medications like ibuprofen and aspirin can thin your blood.

When possible, avoid activities like contact sports that put you at risk for bleeding injuries, or talk to your doctor about safety measures.

If your spleen has been removed, watch for potential signs of infection — as the removal of the spleen can increase the risk — and seek medical attention if you start to feel ill or have a fever.

There are many reasons that your doctor may screen for low platelet count. In some cases, a routine blood test may indicate that your levels are low.

If you are at risk of developing a low platelet count due to an underlying condition or medical history, your healthcare professional may recommend that you take prevention measures. These may include:

• avoiding activities with a high risk of bleeding or bruising (i.e., contact sports)
• limiting alcohol consumption
• making dietary changes
• stopping or switching medications that affect platelets, including aspirin and ibuprofen
• getting certain types of vaccinations
• avoiding toxic chemicals

If left untreated, a low platelet count can be very serious because it can cause internal bleeding of the brain or the intestines.

In the worst cases, this may even cause death. That is why it is essential to seek medical care if you think you might be at risk.

While a low platelet count may sound scary, there is much that can be done to prevent and treat the condition. In some cases, the only recommended treatment is to simply monitor it.

However, some individuals with low platelet counts will require treatment. In most cases, the low platelet count is resolved by treating the underlying cause.

If you have a low platelet count or are at risk of developing one, your healthcare professional can work with you to create a prevention or treatment plan.

LDL Cholesterol Reagent / CHOLESTEROL LDL SL 2G (direct method without precipitation, 2-point) LDLL-0230

• 3 Low Density Cholesterol Reagent / CHOLESTEROL LDL SL 2G (direct method without precipitation, 2-point)

Article: LDLL-0230
Manufacturer: ELITechGroup
Packing: 4×21 ml + 4×7 ml

Share:

Add to application

Ordering item

Ask for price

Terms of purchase

• Ordering information

• Application information

• Files

Files

!!!Instruction: Low Density Cholesterol Reagent / CHOLESTEROL LDL SL 2G
(Manual – PDF, 211 KB)

Products in this category

10335892

1 pack

ADVIA Chemistry Triglycerides_2 Reagent (TRIG_2))

Siemens Healthcare Diagnostics

Ordering item

XSYS0096

1 pack

Glycosylated Hemoglobin Reagent

Erba Lachema

Ordering item

h3003

1 PC.

Alpha-amylase reagent

Analyticon Biotechnologies GmbH

Order item

10379673

1 pack

Glycosylated hemoglobin reagent (ADVIA Chemistry Hemoglobin A1c Reagents), 160 tests

Siemens Healthcare Diagnostics

Ordering item

10341116

1 pack

ADVIA Chemistry Calcium Reagents

Manufacturer: Siemens Healthcare Diagnostics

Ordering item

10316612

1 pack

ADVIA Chemistry Calcium Reagents 10316612

Siemens Healthcare Diagnostics

Ordering item

XSYS0008

x10 pack

Chlorine reagent, colorimetric method

Manufacturer: Erba Lachema

Order item

CHSL-0455

x6 pcs.

Cholesterol Reagent / CHOLESTEROL SL (Enzymatic, Monoreagent, Endpoint)

Manufacturer: ELITechGroup

Ordering item

HDLL-0230

1 PC.

High Density Cholesterol Reagent / CHOLESTEROL HDL SL 2G (direct method without precipitation, 2-point)

Manufacturer: ELITechGroup

Stock item

LDLL-0230

1 PC.

Low Density Cholesterol Reagent / CHOLESTEROL LDL SL 2G (direct method without precipitation, 2-point)

Manufacturer: ELITechGroup

Ordering item

10309049

1 pack

ADVIA Chemistry ALP (AMP) Reagents, 2485 tests

Manufacturer: Siemens Healthcare Diagnostics

Ordering item

10318208

1 pack

Antistreptolysin O_2 Reagent Kit for ADVIA Chemistry Anti-Streptolysin-O_2 Reagent (ASO_2)

Manufacturer: Siemens Healthcare Diagnostics

Order item

Show more

You have viewed

009410

1 PC.

Rotor for 24 Head 24 cards (if required)

DiaMed GmbH

Ordering item

009414

1 PC.

Head 2 racks rotor (if needed)

DiaMed GmbH

Ordering item

412332

x30 pack

Etest ETP ERTAPENEM – E-test with ertapenem.

bioMerieux SA

Ordering item

VB15

1 PC.

Charoite Enzyme Immunoassay Analyzer with Accessories

Ordering item

DH15

x896 pack

Sample Tips (Box of 896)

Manufacturer:

Ordering item

All
company’s news
Product News
Market news
Events

06/30/2023 10:19

In vivo hemolysis

In vivo hemolysis is caused by acquired, hereditary or iatrogenic conditions and is independent of the preanalytical step

28.06.2023 10:04

Causes of chylous specimen

Availability
chylosis (lipemia) in the blood serum is one of the criteria for laboratory refusal to
performing the study. Let’s
let’s figure out what’s what, and why chylous can be delivered to the laboratory
serum.

06/26/2023 10:04

Is cystatin C an ideal GFR marker?

Cystatin C is an alternative endogenous filtration marker. Why was cystatin C proposed as an alternative GFR marker?

23. 06.2023 10:55

SNIBE WORKSHOP RUSSIA

On June 21, OMB took part in the conference of our partners, organized with the support of the Federation of Laboratory Medicine: “SNIBE WORKSHOP RUSSIA”.

06/18/2023 10:00

Congratulations on the Medical Worker’s Day!

We congratulate you on the Day of Medical Worker – a holiday of real professionals, whose work is so important for each of us!

05/26/2023 10:57

Hemolysis is the main reason for sample rejection

By
According to some data, the prevalence of hemolyzed samples can reach
3.3% of all samples

Show more

04:21 02.07.2023
www.omb.ru
+7 (495) 925-81-50
9 a.m. to 6 p.m. Moscow time

Research Clinical Center of Lipidology NIITPM – FAMILY HYPERCHOLESTEROLEMIA

Information for patients with familial hypercholesterolemia

This damage is the cause of high blood cholesterol levels and is passed down from generation to generation, sometimes it is possible transmission of the disease through the generation. Hypercholesterolemia means high blood cholesterol. The type of cholesterol that is specifically elevated in familial hypercholesterolemia is low-density lipoprotein cholesterol.

Familial hypercholesterolemia is one of the most common hereditary diseases. Approximately 1 out of 135-250 people in the world has genetic damage that causes familial hypercholesterolemia. If one of the parents has familial hypercholesterolemia, then in 50% of cases it will be in his son or daughter.

Familial hypercholesterolemia is associated with an increased risk of cardiovascular disease. The risk varies from family to family and depends on cholesterol levels, other hereditary factors, lifestyle factors such as diet, smoking, physical activity levels, and even whether you are male or female. Women with familial hypercholesterolemia develop cardiovascular disease approximately 10 years later than men with familial hypercholesterolemia. With early and adequate treatment, the risk of cardiovascular disease can be significantly reduced.

IMPORTANT

Familial hypercholesterolemia is inherited and runs in the family. In cases of high blood cholesterol, especially high low-density lipoprotein cholesterol, the risk of early onset of cardiovascular disease increases.

Low Density Lipoprotein Cholesterol (LDL-C) are particles that float in the blood stream and are an efficient transport system that carries cholesterol from one cell of our body to another. Cholesterol is a fatty substance that our body needs to build cells, synthesize hormones, and produce bile acids in the liver.

Too high blood cholesterol is not good for you: excess cholesterol accumulates in the walls of blood vessels and makes them narrower and causes atherosclerosis. Atherosclerosis can lead to cardiovascular disease. To transport cholesterol to special cells, LDL particles have a special protein attached called apolipoprotein B. Apolipo B makes a bridge between LDL particles and the cells in your body that carry the LDL receptor. The receptor helps cells recognize low-density lipoprotein particles. If the apolipoprotein B receptor or protein is abnormal, your blood cholesterol levels rise. This is the cause of familial hypercholesterolemia.

IMPORTANT

LDL transports the cholesterol in your blood to your cells. Cholesterol is needed for cell building, hormone production, and bile acid production. However, if there is too much LDL cholesterol, it accumulates in the walls of blood vessels. This phenomenon is called atherosclerosis.

The traits we inherit from our parents are determined by the information stored in our DNA. DNA, folded into chromosomes, is located inside the nuclei of cells. DNA contains approximately 3 million building blocks, 25,000 of which are specifically combined to make up genes. Genes contain information about characteristics such as eye and hair color, but they can also “code” diseases. Changes in one of the “building blocks” that make up a gene can be the cause of hereditary diseases. In most cases, in familial hypercholesterolemia, these changes are in the gene that codes for the low-density lipoprotein receptor (LDL receptor). This receptor sits on the surface of cells and can be thought of as a “tentacle” that removes cholesterol-containing particles from the blood. Changes in the gene for the LDL receptor result in an abnormal LDL receptor (“tentacle”), making it incapable of removing particles from the blood. This is the cause of familial hypercholesterolemia.

Most people with FH inherit one defective LDL receptor gene from one parent and one normal LDL receptor gene from the other parent. Consequently, they only have approximately 50% of the normal number of active LDL receptors (“tentacles”) on the cell surface (Fig. 4). This means that they always have an unnecessarily elevated level of LDL-C circulating in the blood. The problem is that excess LDL-C can accumulate in the walls of blood vessels.

IMPORTANT

FH is caused by a change in the gene that codes for the LDL receptor. A defective LDL receptor cannot remove LDL-C from the blood into cells. Excess cholesterol accumulates in the walls of blood vessels.

Familial hypercholesterolemia may be suspected when there is a family history of early-onset cardiovascular disease. If a person suffers from a myocardial infarction (heart attack) before the age of 50-60, it may be due to high cholesterol. In such cases, it is recommended to determine the blood lipid profile of the patient’s family members:

• lipid profile measures various types of lipoproteins in the blood, such as total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides.
• It is important to diagnose familial hypercholesterolemia at a young age. Treatment is more effective when started early and before the accumulation of cholesterol in the vessel walls becomes too great.

There are several external signs that can be identified in familial hypercholesterolemia, such as thickening of the tendons in the heels and hands (xanthoma nodules) or yellowish areas around the eyes (xanthelasma), but these are not always present in patients with familial hypercholesterolemia. Sometimes cholesterol is deposited in the iris (colored part) of the eye in the form of an arch at an early age (corneal lipid arch).

IMPORTANT

Familial hypercholesterolemia may be suspected in people who have an early onset of cardiovascular disease during their lifetime in association with high blood cholesterol levels. Relatives of such patients should determine their lipid profile.

Familial hypercholesterolemia is diagnosed by genetic testing. A blood sample is taken so that DNA can be isolated from the cell nuclei of the white blood cells. Then the DNA is examined. Familial hypercholesterolemia is diagnosed by finding a defect in genes, such as the gene for the low-density lipoprotein receptor (LDL receptor). Genetic testing involves systematically looking for genetic defects throughout the LDL receptor gene on chromosome 19. People who have an inherited gene defect will have familial hypercholesterolemia. Close relatives such as parents, siblings and children of a patient with familial hypercholesterolemia have a 50% risk of also having familial hypercholesterolemia. Examination of family members is key to the early diagnosis of this disease.

IMPORTANT

Familial hypercholesterolemia is determined by genetic testing and identification of an abnormal LDL receptor gene. Testing close family members allows early identification of the disease.

People with familial hypercholesterolemia usually have high total cholesterol and high LDL cholesterol from birth. It is recommended that parents with familial hypercholesterolemia allow their children to be diagnosed with familial hypercholesterolemia before school age. Confirmation of the diagnosis is important in adolescence, the sooner diet and eating habits are changed, the better one can help reduce the manifestations of familial hypercholesterolemia later in life. If a child’s test is normal, they don’t have to worry about developing familial hypercholesterolemia later in life.

IMPORTANT

Testing of children to diagnose familial hypercholesterolemia before school age is recommended in families with diagnosed familial hypercholesterolemia. This allows early changes in the child’s diet to encourage healthy eating.

There are two steps that can help lower cholesterol: dietary changes and medications.

Dietary changes are the first step in lowering cholesterol levels, but if cholesterol is not being reduced enough, appropriate drugs should be prescribed. This is true for all people with familial hypercholesterolemia. Diet changes can reduce high cholesterol by 10-15%. The goal of treatment (diet and medication) is to lower cholesterol levels below the average for the population, i.e. less than 4.5 mmol/L or 175 mg/dL for adults. For those who are at high risk for cardiovascular disease or those who already have heart and vascular disease, the total cholesterol reduction target may be even greater.

When a person inherits the defective gene from both parents, a functioning LDL receptor may be completely absent from the cells. Neither medication nor dietary treatment may be enough to reduce extremely high cholesterol levels. In such patients, LDL-cholesterol can be reduced by mechanical removal from the blood using a cleansing technique similar to blood dialysis (apheresis) .

IMPORTANT

Dietary changes can reduce LDL cholesterol by 10-15%. For patients with familial hypercholesterolemia, this may not be enough and dietary changes should be combined with medication. For severe forms of familial hypercholesterolemia, a cleansing treatment technology similar to dialysis (apheresis) can be additionally applied.

All fats in food are a mixture of saturated and unsaturated fats. Saturated fats are found in animal products (such as dairy and meat products), hard margarines, and in most cookies, biscuits, muffins, fast food, and snacks. These saturated fats increase cholesterol, unlike unsaturated fats from plants and fish, which lower or act neutrally on LDL cholesterol.

Low cholesterol intake is recommended for people with high blood cholesterol levels. The most important dietary sources of cholesterol are found in animal products such as egg yolks, offal, meat, and full-fat dairy products such as cheese, cream, and butter.

Oily fish and fish oil are rich in omega-3 fatty acids, which have a beneficial effect on blood circulation and heart rhythm. Omega-3s also lower triglyceride levels. To ensure adequate omega-3 intake, it is recommended to eat fish as a main meal at least twice a week. If you rarely eat oily fish, then fish oil or other omega-3 supplements should be taken daily.

Cholesterol levels are benefited by fiber in coarse corn and whole grains, legumes, peas, fruits, berries and vegetables. Certain types of fiber can bind cholesterol in the intestines and be excreted through feces, therefore lowering blood cholesterol levels. High-fiber foods are also an important source of vitamins, minerals, and antioxidants.

Diet for people with familial hypercholesterolemia should be varied and balanced. The goal is to gradually reduce total fat and cholesterol intake while focusing on consuming the right type of fat, fiber-rich foods, fruits, berries and vegetables. For children with familial hypercholesterolemia, dietary compliance should be supported by dietary changes for all family members. It is important that healthy eating habits are established as early as possible. Diet changes take time, often months or years, and require regular follow-up by a clinical nutritionist or physician. What you eat regularly is very important! Random deviations from the recommended diet do not lead to an increase in blood cholesterol levels.

IMPORTANT

Five important tips for a balanced diet:

1. 1. eat less fat, especially less saturated fat
   2. replace saturated fats with unsaturated fats
   3. eat more fiber foods, vegetables and fruits every day
   4. eat less high cholesterol foods
   5. limit food and drinks high in sugar or alcohol

Medicines that can lower your LDL cholesterol increase LDL receptors to better absorb LDL cholesterol from your blood. Dietary changes must be combined with medication to lower cholesterol sufficiently. Several types of drugs are prescribed, which can be administered alone or in combination. New drugs are being developed. Drug therapy for familial hypercholesterolemia is not limited to adults. If the patient with familial hypercholesterolemia is a family member with confirmed familial hypercholesterolemia, it is recommended to start drug treatment from the age of 10-12 years, especially if the patient’s parents had heart problems before the age of 40 years. Treatment is lifelong and will help you achieve a longer and healthier life.

Drugs that lower LDL cholesterol include statins, resins, cholesterol absorption inhibitors, and nicotinic acid. Your doctor may treat you with one or more of these four types of medicines. Medicines, a healthy lifestyle and a balanced diet are applied throughout life. If LDL cholesterol is reduced to the required level, the deposition of cholesterol in the blood vessels and around the eyes or tendons will decrease.

Your body produces cholesterol all the time. Your body is also exposed to the daily intake of more fat and cholesterol in the diet. Once LDL cholesterol has decreased as a result of treatment, it is important to prevent it from rising again. Any person with familial hypercholesterolemia whose body cannot properly regulate cholesterol should maintain a healthy diet and lifestyle and continue to take lipid-lowering drugs throughout life to control LDL cholesterol levels.

Diseases of the heart and blood vessels caused by atherosclerosis are classified as cardiovascular diseases. Atherosclerosis is accompanied by the accumulation of fat (including cholesterol) and narrowing of the blood vessels, which can lead to reduced blood flow to the organs. When atherosclerosis reduces blood flow to an organ, it can cause damage to the organ. If this happens in the blood vessel that delivers blood to the heart, it causes a heart attack. If this happens in the blood vessel that delivers blood to the brain, it causes a stroke.

Atherosclerosis begins with the deposition of cells filled with cholesterol in the inner wall of blood vessels. This causes inflammation, further cholesterol deposition, scar tissue formation and hardening leading to plaque formation. Plaque can narrow a blood vessel and reduce blood flow to the heart and other organs. In the heart, reduced blood supply can cause pain or discomfort after exercise, for example. The plaques can rupture, damaging the inside of the blood vessel and forming a blood clot, which can severely restrict or block the blood supply. A tissue plug (large or small) can cause an immediate lack of oxygen supplied by a blood vessel to part of an organ. This is called a heart attack. In this situation, it is important to restore blood flow as quickly as possible to limit tissue damage. This can be achieved through the use of a clot-dissolving drug, direct mechanical removal of the blood clot using a catheter (a small tube designed to enter blood vessels), and by increasing the size of the blood vessel with a small balloon that expands inside the vessel with subsequent introduction of a metal mesh into a blood vessel (stenting). These methods are often combined.

IMPORTANT

Heart attack and stroke are the end result of atherosclerosis. Atherosclerosis is the hardening and narrowing of blood vessels caused by cholesterol buildup and inflammation, with plaque formation. Plaque reduces the size of the inside of a blood vessel. A damaged plaque can cause a blood clot to form, leading to very rapid narrowing or blockage of a blood vessel.

Risk factors are features (biological, psychological or environmental) that increase a person’s chance of developing atherosclerosis and cardiovascular disease. One of the most important risk factors for heart disease is high LDL cholesterol with low levels of another type of cholesterol called high-density lipoprotein cholesterol (HDL-C). Health risk factors include diabetes and high blood pressure, which can be influenced by lifestyle factors such as being overweight, eating less fruits and vegetables, and limiting physical activity. Smoking is one of the most important lifestyle risk factors. Age and gender are also risk factors. Cardiovascular disease increases with age, and men get sick about 10 years earlier than women. If you have multiple risk factors, you are more likely to develop cardiovascular disease.

YES! Studies show that lowering LDL cholesterol lowers the risk of cardiovascular disease. Cholesterol deposition depends in part on how high LDL cholesterol levels are and how long LDL cholesterol causes damage to blood vessels. By lowering LDL cholesterol levels, people with signs of cardiovascular disease will reduce both hardening and narrowing of blood vessels. It is important to start lowering LDL cholesterol as early as possible. Smoking cessation is critical to reducing the risk of cardiovascular disease.

IMPORTANT

Lowering LDL cholesterol in familial hypercholesterolemia is important because it reduces wall thickening and narrowing of blood vessels and reduces the risk of cardiovascular disease. Stopping smoking is critical.

Women with familial hypercholesterolemia can use oral contraceptives. Menopausal women with familial hypercholesterolemia may also use hormone supplements.

Patients with familial hypercholesterolemia should not consume alcohol if they have high triglyceride levels. Moderate wine consumption does not increase LDL cholesterol levels.

Large amounts of coffee can increase blood cholesterol levels. This is because there are two substances in coffee that have the effect of increasing cholesterol levels. These substances are removed when the coffee is filtered. Therefore, filtered coffee and instant coffee do not increase cholesterol levels. Tea and coffee also contain substances that can slow the development of atherosclerosis.

IMPORTANT

Moderate consumption of alcohol and filtered coffee is acceptable in some patients with familial hypercholesterolemia. Alcohol should be consumed with caution if blood triglyceride levels are high. Coffee can increase cholesterol levels if it is not filtered.

Smoking is especially dangerous for patients with familial hypercholesterolemia, and it is strongly recommended that patients with familial hypercholesterolemia not smoke. Smoking causes additional damage to blood vessels and lowers blood levels of HDL (“good cholesterol”) cholesterol and increases the risk of cardiovascular disease, even when blood cholesterol levels are normal. Untreated patients with familial hypercholesterolemia have a 25 times higher risk of developing cardiovascular disease compared to people without familial hypercholesterolemia. Untreated patients with familial hypercholesterolemia who also smoke have a 75-fold increased risk! This applies to both men and women.

IMPORTANT

Untreated patients with familial hypercholesterolemia who also smoke have a 75-fold increased risk of CVD!

Physical activity is recommended for all age groups. Regular exercise has a beneficial effect on the lipid profile by lowering LDL cholesterol and triglycerides, and increasing HDL cholesterol. Regular physical activity helps lower blood pressure and reduce the risk of being overweight, developing type 2 diabetes, and some forms of cancer.

IMPORTANT

Thirty minutes of daily physical activity (enough to increase your heart rate) is recommended at least five times a week.

You have learned that familial hypercholesterolemia is an inherited disorder caused by a defective LDL receptor gene.

A defective LDL receptor can lead to an increase in LDL cholesterol in the blood, and this can lead to atherosclerosis and diseases of the heart and blood vessels.

Cardiovascular disease at a young age is an indicator of familial hypercholesterolemia.

You can find out if family members are affected by familial hypercholesterolemia by measuring their LDL cholesterol and finding out if they carry the defective gene.