What is Amyloidosis?

What is Amyloidosis?

An amyloidosis is a group of serious and rare diseases in which abnormal proteins, known as amyloid fibrils, build up in tissues and organs. Building up of these proteins leads to improper functionality of the organs and hence the failure. It results from abnormalities in plasma cells. Amyloidosis could be either genetic or acquired. There are several types of Amyloidosis depending on the type of protein that accumulates in tissues. The most common type of Amyloidosis is known as ATTR Amyloidosis.

What are the key symptoms of Amyloidosis?

1. Symptoms related to Kidney failure:

  • General weakness & tiredness
  • Loss of appetite
  • Legs swelling as a result of fluid retention

2. Symptoms related to heart failure:

  • Arrhythmia
  • Legs swelling as a result of fluid retention
  • Shortness of breath

3. Other symptoms:

  • Carpel tunnel syndrome
  • Peripheral neuropathy
  • Constipation or diarrhea
  • Fainting when standing up

How to diagnose Amyloidosis?

Diagnosing Amyloidosis is not an easy process due to its vague symptoms. Several tests could be conducted to diagnose Amyloidosis, including:

  1. Tissue biopsy from the affected organ
  2. Bone marrow biopsy
  3. MRI or CT scan for affected organs
  4. Heart ultrasound
  5. Blood tests
  6. Serum amyloid P scanning (SAP Scanning).

How to treat Amyloidosis?

In most cases, chemotherapy is required to treat Amyloidosis in combination with steroids. This treatment aims to destroy the abnormal plasma cells in the bone marrow. Some cases could qualify for stem cell transplantation. It is very important to keep eye on organs like the heart and kidney after diagnosis. Some patients may need renal dialysis or transplantation.

In Jan 2021 the FDA grants accelerated approval to Darzalex Faspro for newly diagnosed light chain amyloidosis.