What is mastocytosis and how does it affect the body. What are the common symptoms of mastocytosis and how is it diagnosed. How can mastocytosis be managed and treated effectively.

What is Mastocytosis and How Does It Affect the Body?

Mastocytosis is a rare condition characterized by the abnormal accumulation of mast cells in various tissues of the body. Mast cells, which are integral components of the immune system, play a crucial role in protecting the body against infections. In mastocytosis, these cells grow excessively, leading to a range of symptoms and potential complications.

The most common form of mastocytosis affects the skin, resulting in reddish-brown spots or bumps. However, in rare cases, it can impact other parts of the body, including the stomach, intestines, and bone marrow. While mastocytosis can occur at any age, it tends to be milder in children, who often outgrow the condition.

The Role of Mast Cells in the Body

Mast cells are produced by the bone marrow and are particularly abundant in the skin, lungs, and intestines. These cells are responsible for producing histamine, a chemical that acts as an alarm system for the immune system. When the body encounters a potential threat, such as an insect bite or allergen, mast cells release histamine, triggering an immune response that can lead to swelling, itching, and redness.

Common Symptoms of Mastocytosis: From Skin Rashes to Digestive Issues

The symptoms of mastocytosis can vary widely depending on which parts of the body are affected. Some of the most common manifestations include:

• Red, itchy rash
• Freckle-like skin discoloration
• Hives
• Solitary skin lumps
• Diarrhea
• Stomach pain, nausea, or vomiting
• Fainting episodes
• Difficulty breathing

In cases where mast cells accumulate in the skin, patients may experience a persistent rash that becomes red and swollen when rubbed. This phenomenon is known as Darier’s sign and is characteristic of cutaneous mastocytosis.

When mastocytosis affects the gastrointestinal tract, individuals may suffer from chronic diarrhea and abdominal discomfort. This form of the condition is less common but can significantly impact quality of life.

Severe Reactions in Mastocytosis

In rare instances, mastocytosis can lead to severe allergic-like reactions. These reactions may involve a sudden drop in blood pressure, resulting in fainting, and can potentially cause life-threatening breathing difficulties. Such severe manifestations require immediate medical attention and highlight the importance of proper management for individuals diagnosed with mastocytosis.

Unraveling the Causes of Mastocytosis: What Triggers Mast Cell Proliferation?

The exact cause of mastocytosis remains elusive, with researchers still working to fully understand why some individuals experience an abnormal proliferation of mast cells. However, certain factors have been identified as potential triggers for symptom flare-ups in people with mastocytosis:

• Exposure to extreme temperatures (hot or cold)
• Certain medications
• Emotional stress
• Insect bites or stings

It’s important to note that triggers can vary significantly from person to person. What may cause a flare-up in one individual with mastocytosis might not affect another. This variability underscores the need for personalized management strategies for each patient.

Diagnosing Mastocytosis: From Skin Biopsies to Blood Tests

Diagnosing mastocytosis can be challenging due to the similarity of its symptoms to other health conditions. Physicians employ various diagnostic techniques to confirm the presence of mastocytosis and determine its extent:

Skin Biopsy

For suspected cutaneous mastocytosis, a skin biopsy is often the first step. During this procedure, a small piece of affected skin is removed and examined under a microscope to identify an excess of mast cells.

Bone Marrow Biopsy

In adult-onset mastocytosis, doctors may recommend a bone marrow biopsy. This test not only helps confirm the diagnosis but also allows physicians to check for any associated blood disorders that may coexist with mastocytosis.

Blood and Urine Tests

For patients presenting with systemic symptoms like diarrhea but no visible skin manifestations, blood and urine tests may be conducted. These tests can detect elevated levels of substances produced by mast cells, providing evidence of mastocytosis even in the absence of skin involvement.

Managing Mastocytosis: Treatment Options and Lifestyle Modifications

While there is currently no cure for mastocytosis, various treatment options are available to manage symptoms and improve quality of life:

Antihistamines

Antihistamines, commonly used to treat allergies, can be particularly effective in managing the itching and swelling associated with mastocytosis. These medications work by blocking the effects of histamine released by mast cells.

Ultraviolet Light Therapy

For patients troubled by persistent skin rashes, ultraviolet light therapy may be recommended. This treatment can help reduce skin symptoms and improve the appearance of affected areas.

Cromolyn Sodium

Oral cromolyn sodium (brand name: Gastrocrom) may be prescribed to alleviate gastrointestinal symptoms such as diarrhea and abdominal discomfort. This medication helps stabilize mast cells, reducing their tendency to release symptom-causing chemicals.

Trigger Avoidance

One of the most effective strategies for managing mastocytosis is identifying and avoiding personal triggers. Patients are encouraged to work with their healthcare providers to create a comprehensive list of factors that seem to exacerbate their symptoms. This may include certain foods, medications, environmental conditions, or stressful situations.

Living with Mastocytosis: Practical Tips and Emergency Preparedness

For individuals diagnosed with mastocytosis, adopting certain lifestyle modifications and being prepared for potential emergencies can significantly improve day-to-day life:

• Carry an emergency kit: Given the risk of severe allergic reactions, it’s crucial for mastocytosis patients to always have an emergency kit containing necessary medications.
• Educate family and friends: Inform those close to you about your condition and what to do in case of a severe reaction.
• Wear medical alert jewelry: This can quickly inform medical professionals about your condition in emergency situations.
• Maintain a symptom diary: Keeping track of symptoms and potential triggers can help in managing the condition more effectively.
• Regular check-ups: Schedule regular appointments with your healthcare provider to monitor your condition and adjust treatment as needed.

Advancements in Mastocytosis Research: Hope for Future Treatments

While current treatments focus on symptom management, ongoing research in the field of mastocytosis offers hope for more targeted therapies in the future. Scientists are exploring several promising avenues:

Tyrosine Kinase Inhibitors

Researchers are investigating the use of tyrosine kinase inhibitors, which have shown promise in treating certain forms of mastocytosis by targeting specific genetic mutations associated with the condition.

Immunotherapy

Advances in immunotherapy may lead to new treatments that can modulate the immune system’s response in mastocytosis patients, potentially reducing symptoms and improving quality of life.

Personalized Medicine

As our understanding of the genetic factors underlying mastocytosis improves, there is growing potential for personalized treatment approaches tailored to individual patients based on their specific genetic profile.

These ongoing research efforts underscore the importance of continued scientific inquiry into mastocytosis and offer hope for more effective treatments in the years to come.

Mastocytosis – familydoctor.org

What is mastocytosis?

Mastocytosis is the abnormal growth of mast cells in the body. Mast cells are part of the immune system, which helps protect your body against infection. The most common form of mastocytosis is when mast cells accumulate on the skin, causing reddish-brown spots or bumps. In rare cases, mastocytosis can affect other parts of the body. These include the stomach, the intestines, and the bone marrow.

Mastocytosis can occur in people of any age. It is usually mild in children, and they often outgrow it.

What are mast cells?

Mast cells are a kind of cell made by your bone marrow. They’re part of your immune system, which helps you fight off infections. There are more of these cells in your skin, lungs, and intestines than in other parts of your body.

Mast cells make a chemical called histamine. Normally, this chemical serves as a kind of alarm. It lets the immune system know that an infection is attacking part of the body. Histamine can cause swelling, itching, and redness. It is released when your body reacts to something like an insect bite or a bee sting (called an allergic reaction).

What are mast cells?

Mast cells are a kind of cell made by your bone marrow. They’re part of your immune system, which helps you fight off infections. There are more of these cells in your skin, lungs, and intestines than in other parts of your body.

Mast cells make a chemical called histamine. Normally, this chemical serves as a kind of alarm. It lets the immune system know that an infection is attacking part of the body. Histamine can cause swelling, itching, and redness. It is released when your body reacts to something like an insect bite or a bee sting (called an allergic reaction).

Symptoms of mastocytosis

The symptoms are different, depending on where the extra mast cells are. If there are too many mast cells in your skin, you might have a red and itchy rash. You could get hives or have a rash that looks like freckles. If you rub the rash, it may get red and swollen. Sometimes the mast cells collect at one spot in your skin and cause one large lump.

If the mast cells are in your stomach and intestines, you might have diarrhea and stomach pain. This is a rarer form of mastocytosis.

In some people the extra mast cells cause a serious reaction. It might be like a bad allergy reaction. This is very rare. Their blood pressure may suddenly drop to a low level, causing them to faint. They may have trouble breathing. This reaction can cause death if treatment isn’t started right away.

Possible symptoms of mastocytosis include:

• Red, itchy rash
• Rash that looks like freckles
• Hives
• One large lump on the skin
• Diarrhea
• Stomach pain, nausea, or vomiting
• Fainting
• Difficulty breathing

What causes mastocytosis?

Doctors don’t know exactly why some people have too many mast cells. Some of the things that trigger the release of histamine from mast cells also cause the symptoms of mastocytosis. Symptoms may be triggered by cold or heat, certain medicines, emotional stress, and insect bites. However, the triggers aren’t the same in every person.

How is mastocytosis diagnosed?

The symptoms of mastocytosis can be similar to the symptoms of many other health problems. Your doctor may do a skin biopsy to find out what is causing your symptoms. To do a biopsy, your doctor removes a small piece of skin and puts it under a microscope to look for extra mast cells. When an adult gets mastocytosis, the doctor may order a bone marrow biopsy. The biopsy allows doctors to look for other blood diseases that might come along with the mastocytosis.

If you don’t have a rash but you have other symptoms, such as diarrhea, your doctor may do a blood test or a urine test.

Can mastocytosis be prevented or avoided?

There is no way to completely avoid mastocytosis. But you may be able to help prevent symptoms by learning what triggers mastocytosis for you.

Mastocytosis treatment

There currently is no cure for mastocytosis, but treatment can help stop your symptoms.

Antihistamines (which are often used to treat allergies) are helpful. If a rash bothers you, your doctor may suggest that you be treated with ultraviolet light. If you have diarrhea, an oral version (taken by mouth) of a medicine called cromolyn sodium (brand name: Gastrocrom) may help relieve digestive problems.

The best treatment for mastocytosis may be to stay away from the things that seem to trigger your symptoms. It may help if you and your doctor list all the things that cause you to experience symptoms. Did your symptoms start after you were exposed to heat or cold? Felt stressed? Took a certain medicine? Got an insect bite? Share your list of triggers with your doctor.

Living with mastocytosis

Mastocytosis can cause a severe allergic reaction in some people. It’s a good idea to always keep an emergency kit with you. This way, you can give yourself medicine to stop a dangerous reaction. Your emergency kit should include an EpiPen, Benadryl, and Pepcid.

Questions to ask your doctor

• How will you determine whether I have mastocytosis?
• What treatment is best for me?
• Could I have a dangerous allergic reaction?
• What should I do if I have a bad allergic reaction?
• Will I need to take medicine?
• What can I do at home to help relieve my symptoms?
• Will I have mastocytosis for the rest of my life?
• Will I have to be on medicine for the rest of my life?
• Are my children more likely to have mastocytosis?

Resources

National Center for Advancing Translational Science: Mastocytosis

Copyright © American Academy of Family Physicians

This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject.

Nausea and Vomiting | ACAAI Public Website

Food allergies are the most likely allergies to cause nausea and/or vomiting. A reaction occurs when your The immune system plays a role in the control of cancer and other diseases, but also is the culprit in the phenomena of allergies, hypersensitivity and the rejection of transplanted organs, tissues and medical implants.</span>” rel=”tooltip”>immune system overreacts to a food or a substance in a food, incorrectly identifying it as a danger and triggering a protective response.

You don’t normally associate seasonal allergies with nausea — for good reason. Nausea and vomiting are rarely, if ever, symptoms of a seasonal "}" data-sheets-userformat="{"2":8963,"3":{"1":0},"4":[null,2,16777215],"11":4,"12":0,"16":10}">Allergies are inappropriate or exaggerated reactions of the immune system to substances that, in the majority of people, cause no symptoms. Symptoms of the allergic diseases may be caused by exposure of the skin to a chemical, of the respiratory system to particles of dust or pollen (or other substances), or of the stomach and intestines to a particular food.</span>” rel=”tooltip”>allergy. Typical seasonal allergy symptoms include sneezing, runny nose, itchy eyes and maybe a rash.

If you encounter something you’re allergic to, your immune system considers the substance dangerous and releases a chemical called Histamine is one of the substances responsible for the symptoms on inflammation and is the major reason for running of the nose, sneezing, and itching in allergic rhinitis. It also stimulates production of acid by the stomach and narrows the bronchi or airways in the lungs."}" data-sheets-userformat="{"2":8963,"3":{"1":0},"4":[null,2,16777215],"11":4,"12":0,"16":10}">Histamine is a chemical present in cells throughout the body that is released during an allergic reaction. Histamine is one of the substances responsible for the symptoms of inflammation and is the major reason for a nose running, sneezing, and itching in allergic rhinitis. It also stimulates acid production by the stomach and narrows the bronchi or airways in the lungs.</span>” rel=”tooltip”>histamine to counteract it. Histamine can cause a variety of symptoms, including rash, headache, sneezing, runny nose and swelling — and in the case of food allergies, nausea, vomiting and diarrhea. If the allergen is something you breathe in, your reaction will probably affect your eyes, nose and lungs. If you eat the allergen, you’re more likely to have symptoms in your mouth, stomach and intestines.

Other food allergy symptoms include:

• Hives
• Shortness of breath
• Wheezing
• Repetitive cough
• Shock or collapse of the circulatory system
• Tight, hoarse throat; trouble swallowing
• Swelling of the tongue, affecting the ability to talk or breathe
• Weak pulse
• Pale or blue skin
• Dizziness or feeling faint

The most severe reaction, known as anaphylaxis, can be life-threatening and requires immediate treatment with an It dilates the airways to improve breathing and narrows blood vessels in the skin and intestine so that an increased flow of blood reaches the muscles and allows them to cope with the demands of exercise. Epinephrine has been produced synthetically as a drug since 1900. It remains the drug of choice for treatment of anaphylaxis."}" data-sheets-userformat="{"2":8963,"3":{"1":0},"4":[null,2,16777215],"11":4,"12":0,"16":10}">Epinephrine is a naturally occurring hormone, also called adrenaline. It is one of two chemicals (the other is norepinephrine) released by the adrenal gland. Epinephrine increases the speed and force of heart beats and thereby the work that can be done by the heart. It dilates the airways to improve breathing and narrows blood vessels in the skin and intestine so that an increased flow of blood reaches the muscles and allows them to cope with the demands of exercise. Epinephrine has been produced synthetically as a drug since 1900. It remains the drug of choice for treatment of anaphylaxis.</span>” rel=”tooltip”>epinephrine auto injector followed by emergency treatment.

symptoms and treatment (reminder for parents)

Enteroviral infections – is a group of diseases caused by several types of viruses. The disease is caused by Coxsackieviruses, polioviruses and ECHO (ECHO).

After an enterovirus infection, persistent lifelong immunity is formed, however, it is serospecific. This means that immunity is formed only to the serological type of virus that the child has had and does not protect him from other varieties of these viruses. Therefore, a child can get sick with an enterovirus infection several times in his life. Also, this feature does not allow the development of a vaccine to protect our children from this disease. The disease has a seasonality: outbreaks of the disease are most often observed in the summer-autumn period.

Causes of infection with enterovirus infection.

Infection occurs in several ways. Viruses can enter the environment from a sick child or from a child who is a carrier of the virus. Virus carriers do not have any manifestations of the disease, but the viruses are in the intestines and are excreted into the environment with feces. This condition can be observed in children who have been ill after a clinical recovery, or in children in whom the virus has entered the body, but could not cause the disease due to the strong immunity of the child. The virus carrier can persist for 5 months.

Once in the environment, viruses can persist for quite a long time, as they tolerate adverse effects well. Viruses are well preserved in water and soil; when frozen, they can survive for several years; heated to 45ºС die in 45-60 seconds).

How enterovirus infection is transmitted.

The transmission mechanism can be airborne (when sneezing and coughing with droplets of saliva from a sick child to a healthy one) and fecal-oral if personal hygiene is not followed. Most often, infection occurs through water, when drinking raw (not boiled) water. It is also possible to infect children through toys if children take them in their mouths. Most often, children aged 3 to 10 years are ill. In children who are breastfed, there is immunity in the body received from the mother through breast milk, however, this immunity is not stable and quickly disappears after the cessation of breastfeeding.

Symptoms of enterovirus infection.

Viruses enter the body through the mouth or upper respiratory tract. Once in the child’s body, the viruses migrate to the lymph nodes, where they settle and begin to multiply. The further development of the disease is associated with many factors, such as virulence (the ability of the virus to resist the protective properties of the body), tropism (the tendency to infect individual tissues and organs) of the virus, and the state of the child’s immunity.

Enteroviral infections have both similar manifestations and different ones, depending on the species and serotype. The incubation period (the period from the virus entering the child’s body until the first clinical signs appear) is the same for all enterovirus infections – from 1 to 10 days (usually 2-5 days).

The disease begins acutely – with an increase in body temperature to 38-39º C. The temperature most often lasts 3-5 days, after which it drops to normal numbers. Very often, the temperature has a wave-like course: the temperature stays for 2-3 days, after which it decreases and stays at normal levels for 2-3 days, then rises again for 1-2 days and finally returns to normal. When the temperature rises, the child feels weakness, drowsiness, headache, nausea, and vomiting may occur. With a decrease in body temperature, all these symptoms disappear, but with a repeated increase, they may return. The cervical and submandibular lymph nodes also increase, as viruses multiply in them.

Depending on which organs are most affected, there are several forms of enterovirus infection. Enteroviruses can affect: the central and peripheral nervous systems, oropharyngeal mucosa, eye mucosa, skin, muscles, heart, intestinal mucosa, liver; in boys, testicular damage is possible.

When the mucous membrane of the oropharynx is affected, enterovirus angina develops. It is manifested by an increase in body temperature, general intoxication (weakness, headache, drowsiness) and the presence of a vesicular rash in the form of bubbles filled with liquid on the mucous membrane of the oropharynx and tonsils. These bubbles burst, in their place ulcers are formed, filled with white bloom. After recovery, no traces remain at the site of the sores.

When the eyes are affected, conjunctivitis develops. It can be one- or two-sided. It manifests itself in the form of photophobia, lacrimation, redness and swelling of the eyes. There may be hemorrhages in the conjunctiva of the eye.

With muscle damage, myositis develops – muscle pain. Pain appears on the background of an increase in temperature. Soreness is observed in the chest, arms and legs. The appearance of pain in the muscles, as well as temperature, can be undulating. When the body temperature decreases, the pain decreases or disappears completely.

With damage to the intestinal mucosa (enteritis), there is a liquid stool. Stools of normal color (yellow or brown), liquid, without pathological (mucus, blood) impurities. The appearance of loose stools can be both against the background of an increase in temperature, and isolated (without an increase in body temperature).

Enteroviral infections can affect various parts of the heart. So, if the muscle layer is damaged, myocarditis develops, if the inner layer is damaged with capture of the heart valves, endocarditis develops, if the outer shell of the heart is damaged, pericarditis develops. The child may experience: increased fatigue, weakness, palpitations, drop in blood pressure, rhythm disturbances (blockade, extrasystoles), pain behind the sternum.

With damage to the nervous system, encephalitis, meningitis can develop. The child has: severe headache, nausea, vomiting, fever, convulsions, paresis and paralysis, loss of consciousness.

With liver damage, acute hepatitis develops. It is characterized by an increase in the liver, a feeling of heaviness in the right hypochondrium, pain in this place. Perhaps the appearance of nausea, heartburn, weakness, fever.

When the skin is damaged, exanthema may appear – hyperemia (red coloration) of the skin, most often on the upper half of the body (head, chest, arms), does not rise above the level of the skin, appears simultaneously.

Boys may have inflammation in the testicles with the development of morchitis. Most often, this condition develops 2-3 weeks after the onset of the disease with other manifestations (tonsillitis, loose stools, and others). The disease passes quite quickly and does not bear any consequences, however, in rare cases, the development of aspermia (lack of sperm) in adulthood is possible.

There are also congenital forms of enterovirus infection, when viruses enter the child’s body through the placenta from the mother. Usually, this condition has a benign course and is cured on its own, however, in some cases, an enterovirus infection can cause an abortion (miscarriage) and the development of a sudden death syndrome in a child (the death of a child occurs against the background of complete health).

Very rarely, damage to the kidneys, pancreas, lungs is possible. The defeat of various organs and systems can be observed both isolated and combined.

Treatment of enterovirus infection

There is no specific treatment for enterovirus infection. Treatment is carried out at home, hospitalization is indicated in the presence of damage to the nervous system, heart, high temperature, which cannot be reduced for a long time when using antipyretics. The child is shown bed rest for the entire period of fever.

Meals should be light, rich in proteins. A sufficient amount of liquid is needed: boiled water, mineral water without gases, compotes, juices, fruit drinks.

Treatment is carried out symptomatically, depending on the manifestations of the infection – tonsillitis, conjunctivitis, myositis, loose stools, heart damage, encephalitis, meningitis, hepatitis, exanthema, orchitis. In some cases (tonsillitis, diarrhea, conjunctivitis …) bacterial complications are prevented.

Children are isolated for the entire period of the disease. In the children’s team may be after the disappearance of all symptoms of the disease.

Prevention of enterovirus infection.

For prevention, it is necessary to observe the rules of personal hygiene: wash hands after going to the toilet, walking on the street, drinking only boiled water or water from a factory bottle, it is unacceptable to use water from an open source (river, lake) to drink a child.

There is no specific vaccine against enterovirus infection, since a large number of serotypes of these viruses are present in the environment.

Enteroviral infection – Symptoms, treatment

Enteroviral infection is an intestinal disease that is provoked by enteroviruses. More than 60 varieties of pathogens of this pathology have been identified. They can be divided into four main groups. Most often, the development of the disease is caused by Coxsackie and polio viruses.

It is worth noting that enterovirus infection is extremely dangerous. Viruses are resistant to the external environment, do not die for a long time, even while in soil or water.

Infection occurs through contaminated water or unwashed and non-thermally processed food.

The last major outbreak of this disease occurred in China several years ago. Then more than 15 thousand children suffered, and 20 babies died. The disease was provoked by a dangerous enterovirus EV71. With the blood stream, it spreads throughout the human body and affects all organs, including the lungs and brain. Therefore, when making a diagnosis of an enterovirus infection, treatment should be taken very carefully.

Possible routes of infection

The causative agents of infection enter the body by airborne droplets, through contaminated water, dirty foods, or through contact with the patient and his household items.

A huge role in the prevention of this disease is played by the observance of sanitary and hygienic rules: washing hands, thermal processing of food and filtering drinking water.

Symptoms of enterovirus infection

The duration of the latent period of the disease depends on various factors. An important role is played by the type of pathogen and the state of the protective functions of a person.

At the end of the incubation period, the following symptoms may appear:

• increase in body temperature;
• headache;
• painful sensations in life;
• nausea;
• vomit.

Before infection pathogens enter the blood, the symptoms of pathology may be mild or not manifest at all. But when the virus spreads throughout the body, the symptoms of intoxication become very pronounced:

• hyperthermia reaches values ​​of 39-40;
• a rash appears on the limbs;
• there are swelling of the hands and feet;
• ulcers appear in the mouth.

If a person ignores the manifestations of the disease and does not start treatment of the pathology on time, enterovirus infection can cause complications. These include:

• inflammation of the meninges;
• encephalitis;
• severe pulmonary edema.

These formidable diseases often lead to damage to the membranes of the brain and provoke paralysis or death of a person. They are especially dangerous for children of preschool and primary school age.

Recently, among the children’s population, doctors most often began to diagnose a small enterovirus infection. The symptoms of this disease are mild and are manifested by a slight rise in body temperature, pain in the joints. As a rule, these manifestations of the disease disappear on their own after a few days and do not require specific treatment.

How is the diagnosis made?

A person can be diagnosed with an enterovirus infection only by the results of the tests. For the duration of their implementation, doctors recommend isolating the sick person so that he does not infect others.

Since the infection is easily transmitted, a preventive examination is carried out for all contact persons. Any case of infection requires registration.

Treatment of enterovirus infection

There is no specific therapy for the disease. Mostly symptomatic treatment is practiced. In the acute period, doctors prescribe the patient a pastel regimen, vitamin therapy, enhanced nutrition.

If a sick person has vomiting or diarrhea, large amounts of fluids are required to avoid dehydration. Also recommended drugs such as Regidron, restoring the water-salt balance.

In the presence of high body temperature and severe pain in the head, antipyretic and analgesic drugs are indicated.