Overview

Amyloidosis is a rare and complex group of diseases characterised by the abnormal accumulation of amyloid proteins in various tissues and organs. These proteins can disrupt normal function and structure, leading to organ damage and dysfunction. It can affect different body parts and may have various underlying causes, making its diagnosis and treatment challenging.

There are several types of amyloidosis, each with distinct underlying causes, including hereditary factors, immunological disorders, and certain chronic diseases. Symptoms of amyloidosis can vary widely, often depending on the specific organs affected, and may include fatigue, swelling, cardiac abnormalities, and neurological deficits. Overall, amyloidosis necessitates a comprehensive approach to diagnosis, management, and treatment. Let’s check in detail.

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Human liver tissue with Amyloidosis under a microscope.[/caption]

What is Amyloid?

Amyloid is an abnormal protein that can accumulate in various organs and tissues. It forms insoluble fibrils that can interfere with the normal structure and function of these tissues.

Types of Amyloidosis

There are several types of amyloidosis, including -

- AL Amyloidosis (Primary Amyloidosis)- This type is associated with abnormal plasma cells in the bone marrow that produce an excess of immunoglobulin light chains, forming amyloid deposits.
- AA Amyloidosis (Secondary Amyloidosis)- This is typically a result of chronic inflammatory conditions such as rheumatoid arthritis, inflammatory bowel disease, or chronic infections.
- Hereditary (Familial) Amyloidosis- This form is caused by mutations in specific genes, leading to the production of abnormal amyloid proteins. Types include ATTR (transthyretin-related) and non-ATTR hereditary amyloidosis.
- Senile Systemic Amyloidosis- This is primarily seen in older individuals and is characterised by deposits of a specific type of amyloid in the heart.

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Human spleen amyloidosis[/caption]

Causes of Amyloidosis

The underlying causes of amyloidosis vary depending on the specific type:

- AL Amyloidosis- Usually occurs in the context of plasma cell disorders such as multiple myeloma or monoclonal gammopathy of undetermined significance (MGUS).
- AA Amyloidosis- Arises due to chronic inflammatory diseases or chronic infections.
- Hereditary Amyloidosis- It is caused by genetic mutations leading to abnormal amyloid protein production.
- Senile Systemic Amyloidosis- Associated with the ageing process, with the exact cause still under research.
- Dialysis-Related Amyloidosis- Long-term dialysis can lead to beta-2 microglobulin amyloid deposits.
- Localised Amyloidosis- Amyloid deposits can occur in specific tissues or organs due to unknown causes.

Symptoms of Amyloidosis

The symptoms of amyloidosis can be diverse and depend on the organs affected by the amyloid deposits. Common symptoms include

- Fatigue and weakness
- Swelling of ankles and legs (oedema),
- Shortness of breath
- Irregular heartbeat
- Numbness or tingling in the hands or feet
- Easy bruising
- Enlarged tongue (macroglossia)

Diagnosis of Amyloidosis

Diagnosing amyloidosis can be challenging due to its varied presentation. It often involves a combination of -

- Medical history and physical examination: A thorough evaluation of symptoms and a physical examination to check for signs of organ involvement.
- Blood and urine tests: These can reveal abnormal protein levels and other markers associated with amyloidosis.
- Tissue biopsy: A sample of affected tissue (often obtained from the abdominal fat pad, bone marrow, or affected organ) is examined under a microscope to detect the presence of amyloid deposits.
- Imaging tests: X-rays, CT scans, or MRI may be used to identify organ damage.
- Electrophoresis and Immunofixation: These tests can help identify the specific type of abnormal protein causing amyloidosis.
- Genetic Testing: For hereditary forms of amyloidosis, genetic testing can identify specific mutations.

Treatment Options For Amyloidosis

The treatment approach for amyloidosis depends on the type, extent of organ involvement, and overall patient health. Options may include:

- Chemotherapy- Chemotherapy or immunomodulatory drugs are used in AL amyloidosis to target abnormal plasma cells.
- Stem Cell Transplantation- For eligible patients with AL amyloidosis, this procedure can replace abnormal plasma cells with healthy ones.
- Medications to Stabilise Transthyretin (TTR) Levels- Used in hereditary amyloidosis to slow the progression of the disease.

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Patisiran, RNA interference (RNAi) therapy for hereditary amyloidosis[/caption]

- Symptomatic Treatment- Addressing specific organ-related symptoms, such as diuretics for oedema or heart medications for cardiac involvement.
- Organ-Specific Treatments- Targeted therapies may be used for specific organ involvement, such as heart or kidney transplantation.
- Supportive Care- Managing symptoms and maintaining overall health through nutrition, physical therapy, and other interventions.

When to Consult a Doctor

You can also get in touch with the expert Hematology doctors at Narayana Healthcare based in your city to get immediate attention and medical support during injuries, health disorders or any other health concern.

Conclusion

Amyloidosis is a complex condition with various underlying causes and manifestations. Early diagnosis and appropriate treatment are crucial to managing the disease and minimising organ damage. If you suspect you or a loved one may be experiencing symptoms of amyloidosis, seek medical attention immediately for a thorough evaluation and personalised treatment plan. Always consult with a healthcare professional for proper medical advice and care.

FAQs About Amyloidosis

Q. What is the leading cause of amyloidosis? A. The leading cause of amyloidosis is the abnormal buildup of amyloid proteins in organs and tissues, which can be caused by various underlying conditions such as multiple myeloma or genetic mutations.

Q. What are the common symptoms of amyloidosis? A. The symptoms of amyloidosis vary depending on the organs affected. Common signs may include fatigue, swelling, weight loss, difficulty swallowing, and organ-specific issues such as heart or kidney problems.

Q. What is the first-line treatment for amyloidosis? A. The first-line treatment for amyloidosis varies depending on the type and extent of organ involvement. Chemotherapy and targeted therapies may target and reduce the production of abnormal proteins, while supportive care helps manage symptoms and improve quality of life.

Q. What is the best treatment for amyloidosis? A. The best treatment for amyloidosis depends on the specific type and severity of the condition. It may include chemotherapy, stem cell transplants, targeted therapy, or supportive measures to manage symptoms and slow disease progression.

Q. Is there any treatment for amyloidosis? A. Yes, there are treatments available for amyloidosis. They aim to alleviate symptoms, slow the progression of the disease, and address underlying causes. Treatment plans are individualised based on the type and stage of amyloidosis.

References

- https://www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causes/syc-20353178
- https://www.webmd.com/cancer/lymphoma/amyloidosis-symptoms-causes-treatments