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Understanding Amyloidosis: What It Is and How to Treat It

By Medical Expert Team

Apr 24 , 2023 | 2 min read

1

What is Amyloidosis?

Amyloidosis is a rare but serious condition caused by the abnormal buildup of amyloid proteins in organs and tissues. These misfolded proteins can disrupt normal function, leading to organ damage. The condition primarily affects the heart, kidneys, liver, nervous system, and digestive tract.

If left untreated, amyloidosis can lead to life-threatening complications, including heart failure and kidney failure. However, early detection and appropriate treatment can improve outcomes.


Types of Amyloidosis

There are several types of amyloidosis, including:

  • AL Amyloidosis: The most common form, associated with abnormal plasma cells, similar to multiple myeloma.
  • AA Amyloidosis: Linked to chronic inflammatory diseases like rheumatoid arthritis.
  • Hereditary (ATTR) Amyloidosis: Caused by genetic mutations affecting the liver-produced protein transthyretin (TTR).
  • Wild-type (Senile) Amyloidosis: Affects older adults, primarily impacting the heart.


Amyloidosis Symptoms

The symptoms of amyloidosis vary depending on the affected organ. Common signs include:

General Symptoms

  • Fatigue
  • Weakness
  • Weight loss

Heart-Related Symptoms

  • Shortness of breath
  • Irregular heartbeat
  • Chest pain

Kidney-Related Symptoms

  • Swelling in legs and ankles
  • Protein in urine (detected through lab tests)

Nervous System Symptoms

  • Numbness or tingling in hands and feet
  • Dizziness upon standing

Gastrointestinal Symptoms

  • Diarrhea or constipation
  • Difficulty swallowing

Skin and Soft Tissue Symptoms

  • Easy bruising
  • Enlarged tongue

Some individuals may have mild symptoms, while others experience severe complications that impact daily life. If you notice persistent symptoms, consult a healthcare professional.


Amyloidosis Diagnosis

Since amyloidosis symptoms mimic other diseases, an accurate diagnosis is crucial. Common diagnostic tests include:

  • Blood and urine tests: Detect abnormal proteins.
  • Tissue biopsy: Examines affected organs for amyloid deposits.
  • Imaging tests (MRICT scan, PET scan): Identify organ involvement.
  • Genetic testing: Determines hereditary amyloidosis risk.


Amyloidosis Treatment Options

Treatment depends on the type of amyloidosis and the organs involved. Common approaches include:

1. Medications

  • Chemotherapy: Targets abnormal plasma cells (for AL amyloidosis).
  • Immunotherapy: Enhances the immune system to fight the disease.
  • Tafamidis and Patisiran: Approved for hereditary ATTR amyloidosis.

2. Stem Cell Transplant (Autologous Bone Marrow Transplant)

  • Involves collecting healthy stem cells before chemotherapy and reinfusing them after treatment.
  • Effective for eligible AL amyloidosis patients.

3. Organ-Specific Treatments

  • Heart: Medications for heart failure and arrhythmia.
  • Kidney: Dialysis in severe cases.
  • Liver Transplant: For hereditary ATTR amyloidosis.


Can Amyloidosis Be Prevented?

There is no known way to prevent amyloidosis, but early detection can help manage the condition. Routine medical check-ups and monitoring underlying health conditions can reduce risks.


Final Thoughts

Amyloidosis is a complex but manageable condition when diagnosed early. Understanding the symptoms, diagnosis process, and available treatments can help improve patient outcomes. If you or a loved one experience symptoms, consult a healthcare provider promptly.


Frequently Asked Questions

1. Is Amyloidosis a Type of Cancer?

No, but AL amyloidosis is linked to abnormal plasma cells, similar to multiple myeloma.

2. How Long Can Someone Live with Amyloidosis?

Life expectancy varies based on the type and stage of the disease. Early diagnosis improves survival rates.

3. What are The First Signs of Amyloidosis?

Fatigue, swelling, shortness of breath, and unexplained weight loss are common early symptoms.

4. Can Amyloidosis Be Cured?

There is no definitive cure, but treatments can manage symptoms and slow disease progression.

5. Who is at Risk for Amyloidosis?

Individuals with chronic infections, inflammatory diseases, or a family history of hereditary amyloidosis have a higher risk.

6. How Does The Internal Medicine Team Help in Managing Amyloidosis?

The internal medicine team plays a key role in diagnosing and managing amyloidosis by coordinating care with specialists, monitoring symptoms, managing complications, providing supportive treatments, and ensuring early detection through routine tests.


Written and Verified by:

Medical Expert Team