What is primary amyloidosis. How is it caused. What are the symptoms of primary amyloidosis. How is primary amyloidosis diagnosed. What treatment options are available for primary amyloidosis.

Understanding Primary Amyloidosis: A Rare Protein Disorder

Primary amyloidosis is a rare and complex disorder characterized by the abnormal buildup of proteins in various tissues and organs throughout the body. These protein deposits, known as amyloid, can significantly impair organ function and lead to a range of serious health complications. But what exactly causes this condition, and how does it manifest in the human body?

What is Amyloidosis?

Amyloidosis refers to the extracellular deposition of a protein called amyloid. This protein accumulation can affect multiple organs and may occur as a result of normal aging or in association with various other conditions. In primary amyloidosis, also known as immunoglobulin light chain amyloidosis or primary systemic amyloidosis, the exact cause remains somewhat elusive, though genetic factors are believed to play a role.

The Underlying Causes of Primary Amyloidosis

While the precise mechanisms behind primary amyloidosis are not fully understood, researchers have identified several key factors that contribute to its development:

• Abnormal protein production
• Excess protein accumulation
• Genetic predisposition
• Immune system dysfunction

The condition is closely linked to the abnormal and excessive production of proteins, particularly immunoglobulin light chains. These abnormal proteins form clumps or deposits in various organs, interfering with their normal function and potentially leading to organ failure if left untreated.

Recognizing the Symptoms of Primary Amyloidosis

The symptoms of primary amyloidosis can vary widely depending on which organs are affected by the amyloid deposits. Some common manifestations include:

• Fatigue and weakness
• Shortness of breath
• Swelling in the arms and legs (edema)
• Numbness or tingling in the hands and feet
• Skin changes
• Abnormal heart rhythms
• Difficulty swallowing
• Weight loss or weight gain

In some cases, patients may experience more specific symptoms related to particular organ involvement:

Cardiac Symptoms

When amyloid deposits affect the heart, patients may experience:

• Irregular heartbeat
• Chest pain
• Dizziness or fainting
• Shortness of breath, especially during physical activity

Renal Symptoms

Kidney involvement in primary amyloidosis can lead to:

• Swelling in the legs and ankles
• Foamy urine (due to protein loss)
• Decreased urine output
• Fatigue and weakness

Neurological Symptoms

Amyloid deposits in the nervous system may cause:

• Carpal tunnel syndrome
• Numbness or tingling in extremities
• Dizziness upon standing (orthostatic hypotension)
• Autonomic nervous system dysfunction

Diagnostic Approaches for Primary Amyloidosis

Diagnosing primary amyloidosis can be challenging due to its varied presentation and similarity to other conditions. However, several diagnostic tools and tests can help healthcare providers confirm the presence of the disease:

Initial Screening

The first step in diagnosing primary amyloidosis typically involves:

• Comprehensive medical history and physical examination
• Blood and urine tests to detect abnormal proteins
• Organ function tests to assess potential damage

Advanced Diagnostic Techniques

If initial screening suggests the possibility of amyloidosis, further tests may be recommended:

• Abdominal fat pad aspiration
• Bone marrow biopsy
• Organ-specific biopsies (e.g., heart, kidney, or liver)
• Imaging studies (echocardiogram, MRI, or abdominal ultrasound)

These tests help confirm the diagnosis and determine the extent of organ involvement, which is crucial for developing an effective treatment plan.

Treatment Strategies for Primary Amyloidosis

While there is no cure for primary amyloidosis, various treatment options can help manage symptoms, slow disease progression, and improve quality of life. The choice of treatment depends on several factors, including the severity of the disease, organs affected, and overall health of the patient.

Chemotherapy

Chemotherapy is often a first-line treatment for primary amyloidosis. It aims to suppress the production of abnormal proteins by targeting the cells responsible for their production. Common chemotherapy regimens may include:

• Melphalan
• Bortezomib
• Cyclophosphamide
• Lenalidomide

Stem Cell Transplantation

For eligible patients, high-dose chemotherapy followed by autologous stem cell transplantation can be an effective treatment option. This procedure involves:

1. Collecting the patient’s own stem cells
2. Administering high-dose chemotherapy to eliminate abnormal plasma cells
3. Reinfusing the collected stem cells to regenerate healthy bone marrow

Organ-Specific Treatments

Depending on the organs affected, additional treatments may be necessary to manage complications:

• Heart failure medications for cardiac amyloidosis
• Dialysis or kidney transplantation for severe renal involvement
• Nutritional support for gastrointestinal complications
• Pain management for neuropathy

Living with Primary Amyloidosis: Prognosis and Quality of Life

The prognosis for primary amyloidosis varies significantly depending on several factors, including:

• Extent of organ involvement
• Stage of the disease at diagnosis
• Response to treatment
• Overall health and age of the patient

While primary amyloidosis can be a serious and life-threatening condition, advances in treatment have significantly improved outcomes for many patients. Early diagnosis and prompt, targeted treatment are crucial for managing the disease effectively and maintaining a good quality of life.

Supportive Care and Lifestyle Modifications

In addition to medical treatments, supportive care and lifestyle modifications play an important role in managing primary amyloidosis:

• Dietary adjustments to support affected organs
• Regular exercise, as tolerated, to maintain strength and mobility
• Stress reduction techniques
• Participation in support groups
• Regular follow-up with healthcare providers

Emerging Therapies and Future Directions in Amyloidosis Research

The field of amyloidosis research is rapidly evolving, with several promising new therapies on the horizon. Some areas of active investigation include:

Targeted Therapies

Researchers are developing drugs that specifically target the abnormal proteins involved in amyloidosis. These include:

• Monoclonal antibodies designed to clear amyloid deposits
• Small molecule inhibitors that prevent protein misfolding
• RNA-based therapies to reduce production of amyloidogenic proteins

Gene Therapy

Advances in gene editing technologies, such as CRISPR-Cas9, offer potential for correcting the genetic mutations associated with some forms of amyloidosis. While still in early stages, this approach holds promise for future treatment strategies.

Improved Diagnostic Tools

Ongoing research aims to develop more sensitive and specific diagnostic tests for amyloidosis, including:

• Advanced imaging techniques to detect early organ involvement
• Blood-based biomarkers for easier screening and monitoring
• Artificial intelligence algorithms to aid in early diagnosis

As our understanding of primary amyloidosis continues to grow, so too does the potential for more effective treatments and improved patient outcomes. Ongoing clinical trials and collaborative research efforts offer hope for those affected by this complex disorder.

The Importance of Awareness and Early Detection

Given the challenges in diagnosing primary amyloidosis, raising awareness among both healthcare providers and the general public is crucial. Early detection can significantly impact treatment outcomes and quality of life for patients. Some key points to consider:

Risk Factors and Screening

While primary amyloidosis can affect anyone, certain factors may increase risk:

• Age (most common in people over 50)
• Gender (slightly more common in males)
• Family history of amyloidosis
• Presence of certain chronic inflammatory conditions

Individuals with these risk factors or unexplained symptoms should discuss screening options with their healthcare provider.

Patient Advocacy and Support

Several organizations provide resources, support, and advocacy for individuals affected by amyloidosis:

• Amyloidosis Foundation
• Amyloidosis Research Consortium
• Amyloidosis Support Groups

These organizations offer valuable information, connect patients with specialists, and promote research initiatives to advance treatment options.

In conclusion, primary amyloidosis is a complex disorder that presents significant challenges for both patients and healthcare providers. However, with ongoing research, improved diagnostic techniques, and emerging therapies, the outlook for those affected by this condition continues to improve. By increasing awareness, promoting early detection, and supporting research efforts, we can work towards better outcomes and improved quality of life for individuals living with primary amyloidosis.

Primary amyloidosis Information | Mount Sinai

Amyloidosis – primary; Immunoglobulin light chain amyloidosis; Primary systemic amyloidosis

Primary amyloidosis is a rare disorder in which abnormal proteins build up in tissues and organs. Clumps of the abnormal proteins are called amyloid deposits.

Amyloidosis refers to the extracellular deposition of a protein called amyloid. This protein deposition can affect multiple organs. The deposition of amyloid may be a by-product of normal aging, or may occur with several other conditions. In this picture, we see how amyloidosis can affect the skin as nodular deposits on the fingers.

Amyloidosis refers to deposits of a protein (called amyloid) in the tissues. This condition can affect multiple organs. The deposition of amyloid may be a by-product of normal aging. In this picture, we see how amyloidosis can cause a patchy, bruised appearance to the skin. Bruises of the skin around the eyes are referred to as the characteristic pinched purpura.

Causes

The cause of primary amyloidosis is not well understood. Genes may play a role.

The condition is related to abnormal and excess production of proteins. Clumps of abnormal proteins build up in certain organs. This makes it harder for the organs to work correctly.

Primary amyloidosis can lead to conditions that include:

• Carpal tunnel syndrome (due to nerve deposits)
• Heart muscle damage (cardiomyopathy) leading to congestive heart failure
• Intestinal malabsorption
• Liver swelling and malfunction
• Kidney failure
• Nephrotic syndrome (group of symptoms that includes protein in the urine, low blood protein levels in the blood, high cholesterol levels, high triglyceride levels, and swelling throughout the body)
• Nerve problems (neuropathy)
• Orthostatic hypotension (drop in blood pressure when you stand up)

Symptoms

Symptoms depend on the organs affected. This disease can affect many organs and tissues, including the tongue, intestines, skeletal and smooth muscles, nerves, skin, ligaments, heart, liver, spleen, and kidneys.

Symptoms may include any of the following:

• Abnormal heart rhythm
• Fatigue
• Numbness of hands or feet
• Shortness of breath
• Skin changes
• Swallowing problems
• Swelling in the arms and legs
• Swollen tongue
• Weak hand grip
• Weight loss or weight gain

Other symptoms that may occur with this disease:

• Decreased urine output
• Diarrhea
• Hoarseness or changing voice
• Joint pain
• Weakness

Exams and Tests

The health care provider will examine you. You will be asked about your medical history and symptoms. A physical exam may show that you have a swollen liver or spleen, or signs of heart or nerve damage.

The first step in diagnosing amyloidosis should be blood and urine tests to look for abnormal proteins.

Other tests depend on your symptoms and the organ that may be affected. Some tests include:

• Abdominal ultrasound to check the liver and spleen
• Heart tests, such as an ECG, echocardiogram, or MRI
• Kidney function tests to check for signs of kidney damage (nephrotic syndrome or renal insufficiency)

Tests that can help confirm the diagnosis include:

• Abdominal fat pad aspiration
• Bone marrow biopsy
• Heart muscle biopsy
• Rectal mucosa biopsy

Treatment

Treatment may include:

• Chemotherapy
• Stem cell transplant
• Organ transplant

If the condition is caused by another disease, that disease should be aggressively treated. This may improve symptoms or slow the disease from getting worse. Complications such as heart failure, kidney failure, and other problems can sometimes be treated, when needed.

Outlook (Prognosis)

How well you do depends on which organs are affected. Heart and kidney involvement may lead to organ failure and death. Body-wide (systemic) amyloidosis can lead to death within 2 years.

When to Contact a Medical Professional

Call your provider if you have symptoms of this disease. Also call if you have been diagnosed with this disease and have:

• Decreased urination
• Difficulty breathing
• Swelling of the ankles or other body parts that does not go away

Prevention

There is no known prevention for primary amyloidosis.

Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 179.

Gertz MA, Buadi FK, Lacy MQ, Hayman SR. Immunoglobulin light-chain amyloidosis (primary amyloidosis). In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 88.

Hawkins PN. Amyloidosis. In: Hochberg MC, Gravallese EM, Silman AJ, Smolen JS, Weinblatt ME, Weisman MH, eds. Rheumatology. 7th ed. Philadelphia, PA: Elsevier; 2019:chap 177.

Last reviewed on: 1/17/2021

Reviewed by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

Ridges, Spots, Lines, Bumps, and More

Medically Reviewed by Stephanie S. Gardner, MD on April 26, 2022

Did you know your nails can reveal clues to your overall health? A touch of white here, a rosy tinge there, or some rippling or bumps may be a sign of disease in the body. Problems in the liver, lungs, and heart can show up in your nails. Keep reading to learn what secrets your nails might reveal.

White nails, also known as leukonychia, describes fingernails that are partially or completely white in color. The white color could be the result of several things such as trauma, anemia, dietary deficiencies, heart or kidney disease, or even poisoning.

If the nails are mostly white with darker rims, this can indicate liver problems, such as hepatitis. In this image, you can see the fingers are also jaundiced, another sign of liver trouble.

One of the most common causes of yellow nails is a fungal infection. As the infection worsens, the nail bed may retract, and nails may thicken and crumble. In rare cases, yellow nails can indicate a more serious condition such as severe thyroid disease, lung disease, diabetes or psoriasis.

Nails with a bluish tint can mean the body isn’t getting enough oxygen. This could indicate a lung problem, such as emphysema. Some heart problems can be associated with bluish nails.

If the nail surface is rippled or pitted, this may be an early sign of psoriasis or inflammatory arthritis. Discoloration of the nail is common; the skin under the nail can seem reddish-brown. 

Dry, brittle nails that frequently crack or split have been linked to thyroid disease. Cracking or splitting combined with a yellowish hue is more likely due to a fungal infection.

Chronic paronychia is a condition that causes inflammation, redness, tenderness, and swelling of the skin folds and tissues surrounding the nails. It is usually the result of irritants or allergens but it can be caused by the fungus Candida albicans, other infections or psoriasis. It can usually be treated with topical steroids.
 

This nail discoloration is called a melanonychia and is caused by the pigment melanin. There are several possible causes including skin cancer, infection or injury.

Biting your nails may be nothing more than an old habit, but in some cases it’s a sign of persistent anxiety that could benefit from treatment. Nail biting or picking has also been linked to obsessive-compulsive disorder. If you can’t stop, it’s worth discussing with your doctor.

Though nail changes accompany many conditions, these changes are rarely the first sign. And many nail abnormalities are harmless — not everyone with white nails has hepatitis. If you’re concerned about the appearance of your nails, see your doctor or a dermatologist.

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REFERENCES:

American Academy of Dermatology.
American Family Physician.
Christine Laine, MD, MPH, senior deputy editor, Annals of Internal Medicine; spokesman, American College of Physicians.
Joshua Fox, MD, director, Advanced Dermatology; spokesman, American Academy of Dermatology.
Mount Sinai Medical Center.
National Skin Centre.
Tamara Lior, MD, dermatologist, Cleveland Clinic Florida.
National Library of Medicine
DermNet NZ
American Academy of Family Physicians
Merck Manual
American Osteopathic College of Dermatology

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Top Picks

Subungual exostosis – causes, symptoms, diagnosis, treatment and prevention

A benign tumor develops under the nail bed and originates from the nail phalanx. The edge of the nail rises, deformation, twisting or ingrowth of the plate occurs.

In addition to the aesthetic defect and the appearance of unpleasant, painful sensations, exostosis is dangerous due to the progression of the pathological process and the loss of the nail plate.

Exostosis requires special attention. Due to the similarity of symptoms, many people confuse exostosis with other diseases – ingrown nails, onychodystrophy, fungus, etc. It is necessary to diagnose, clarify the diagnosis, and assess the degree of deformation in order to prescribe the correct treatment.

It should be borne in mind that it is impossible to cure this disease with traditional medicine or conventional anti-inflammatory patches. A comprehensive medical approach and strict control by a doctor is required!

Symptoms

Clinically, exostosis manifests itself in different ways. In some patients, the disease is asymptomatic for years and is detected incidentally on x-rays. Sometimes the growths cause discomfort, pain and limit the motor function of the toe. There may be redness, swelling of the periungual area, ingrowth of the nail plate.

It is extremely rare, but there are cases of degeneration of a neoplasm into a malignant tumor.

The main sign of subungual exostosis is the exfoliation of the nail plate, its deformation and an increase in the skin periungual ridge. For example, there may be a feeling of “bloating” of the nail, sometimes there is an ingrowth in the area of ​​\u200b\u200bthe edges. As a rule, subungual growths always cause discomfort when walking, running and other physical activities.

Stages of development and causes

Exostosis develops under the skin, so at the first stage the disease does not manifest itself. First, the growth is formed from the epiphasic plate. It ossifies over time and turns into spongy bone. Then the growth is covered with a dense bone shell. It can have a linear, mushroom-shaped, spike-like, spherical and other shape, only a few millimeters in size. Exostosis shows a dynamic nature of development, therefore, it increases with time. That is why you should not postpone treatment – the consequences of the disease can be threatening.

The causes of exostosis are different, often it is wearing uncomfortable shoes, finger injuries, prolonged use of artificial coatings on the nail plate.

Critical to the diagnosis of exostosis is a high-quality radiography of the foot.

Azarova E.S., podiatrist (podiatrist), mycologist, dermatocosmetologist, traumatologist-orthopedist.

Which doctor should I contact with a disease of the nails and feet? All about podology.

Treatment of exostosis

Surgical treatment is practiced using minimally invasive percutaneous surgery. The growth is removed through small incisions under local anesthesia with special orthopedic burs. The indication for surgery is determined by the doctor.

Due to the minimally invasive operation, the patient can leave the walls of ON CLINIC on the same day. Physical ability to work is fully restored within 1-2 weeks.

During the rehabilitation period, the patient is recommended moderate physical activity and special home foot care – with full compliance with all recommendations, treatment takes a minimum of time, and relapses are not observed.

For recovery purposes, the patient may be asked to undergo a course of nail restoration. This issue is discussed with the podiatrist during a personal consultation.

We use safe, proven, low-traumatic methods for the treatment of exostosis. You don’t have to worry about surgery. The micro incision heals quickly, there are no rough scars and scars. The operation itself takes no more than 30 minutes.

ON CLINIC offers patients a wide range of correction systems. If you had to remove the nail at the height of the summer season (when you wear open shoes) or, conversely, the winter season (when you have to wear closed boots), it is possible to restore the aesthetics of the nail plates and protect against possible mechanical impact.

Nail cancer – symptoms, treatment methods, prevention and diagnosis

Nail melanoma is a malignant tumor characterized by rapid growth and multiplication. The appearance of nail cancer is similar to a post-traumatic bruise. In this case, the thumb is considered the most common place of occurrence.

Development of nail melanoma

Primary nail melanoma is almost invisible. Outwardly, it is difficult to identify a malignant tumor, while the nail plate acquires a dark brown and dark blue color. Melanoma under the nail is also colorless due to a small amount of melanin. Nail cancer destroys the nail slowly. Melanoma of the nail does not leave the opportunity to recover. Timely detected melanoma under the nail makes it possible to prescribe treatment with greater efficiency. Melanoma of the big toe nail appears more often due to the presence of a weak point. Melanoma of the nail of the hand is accompanied by a change in the appearance of the fingers.

Causes

Melanoma under the nail is more common in the elderly. The true causes of nail cancer have not yet been identified. Factors affecting the appearance of nail melanoma:

• the presence of moles and warts;
• skin defects of fingers from birth;
• development of tumors in other organs and tissues;
• treated fungus or viral infection;
• regular injury to the site of nail melanoma;
• late treatment of injuries with antiseptics;
• UV burns;
• lack of melanin;
• heredity.

Among the likely causes of nail cancer is a violation of the principle of a healthy lifestyle – lack of sleep, lack of physical activity, malnutrition. All this contributes to a decrease in immunity, which allows the development of melanoma of the nail.

Types of nail melanoma

In the selection of adequate therapy for cancer under the nail is to determine its type. According to the forms of nail cancer, the following types are distinguished:

• superficial – develops in a horizontal position;
• nodal – characterized by deep penetration and rapid spread;
• lentigo – differs from horizontal uneven staining;
• achromatic – characterized by a dark shade of nail melanoma;
• acrolentiginous – initially appears on the surface and gradually penetrates deep into, affecting, including lips, palms and fingers. There are three types depending on the location: nail matrix, plate, epidermis.

How the disease develops

Development stage nail melanoma has the following:

• initial stage nail melanoma is almost impossible to diagnose due to the absence of any manifestations and discomfort;
• Stage 2 is characterized by the appearance of nodules and penetration into the depths, as well as a change in color;
• 3 stage proceeds with the defeat of the lymph nodes and the destruction of the nail;
• Stage 4 occurs with damage to other vital internal organs and severe pain.

Each stage of nail melanoma has its own signs and characteristics.

Symptoms

Symptoms of melanoma:

• separation of the nail plate and the appearance of a thickening in the form of a tubercle;
• discoloration of the nail plate for no apparent reason;
• the appearance of a longitudinal strip in the center of the nail;
• purulent discharge in advanced disease;
• throbbing pain in the affected area, first with pressure, then constant;
• detachment of the nail.

If there are several symptoms, the specialist correctly diagnoses melanoma of the toenail or handnail.

Diagnostics

Melanoma of the toenail or handnail does not allow to determine the disease by external signs. In the process of diagnosis, an anamnesis is collected and dermatoscopy is performed. Examination of melanoma of the nail on the leg or hand occurs with a magnifying glass or other magnifying device. Examining melanoma under the thumbnail is a difficult task. For an accurate diagnosis of toenail or handnail cancer, a biopsy is necessary, as well as blood sampling for tumor markers. With melanoma of the big toe on the leg or arm, the diagnosis is carried out by the following methods – urine and venous blood analysis, MRI, ultrasound of internal organs. The examination is carried out under the supervision of a dermatologist and an oncologist.

Contacting a specialist

In the oncological center “Sofia”, located in the center of Moscow, patients will be provided with the necessary medical care by dermatologists and oncologists trained in leading foreign clinics, as well as psychologists aimed at the correct perception of the diagnosis and the patient’s aspirations to a cure.

Here we are ready to offer you the most modern diagnostic methods that allow you to make an accurate diagnosis and start an adequate treatment. To diagnose melanoma of the toenail or hand, the following procedures are used – MRI, CT, SPECT, PET, radiography, fluoroscopy, ultrasound, laboratory tests.

Treatment

Melanoma of the thumbnail is the most common form of this disease. The only effective way to treat melanoma of the nail on the thumb and all other places is surgery to remove it.

There are several types of operations:

• a simple operation – the neoplasm itself is removed;
• cryotherapy is exposure to liquid nitrogen, effective in the initial stages;
• laser removal – carried out only in the initial stages of the disease.

Before surgery, it is necessary to undergo a course of chemotherapy, to stop the reproduction of malignant cells. And after surgery, a course of radiation therapy is needed to suppress the remaining atypical cells.