Amyloidosis
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Frequently Asked Questions (FAQ) :
Commonly affected organs include the kidneys, heart, liver, spleen, nerves, and gastrointestinal tract.
AL amyloidosis is caused by the abnormal production of light chain proteins by plasma cells, which form amyloid deposits. It is often associated with multiple myeloma.
AA amyloidosis is secondary to chronic inflammatory diseases, infections, or malignancies and involves the deposition of serum amyloid A protein.
Hereditary amyloidosis is caused by inherited mutations in specific genes, leading to abnormal amyloid protein production. Transthyretin (TTR) amyloidosis is the most common form.
Wild-type ATTR amyloidosis occurs due to the accumulation of normal transthyretin protein in elderly individuals, primarily affecting the heart.
Dialysis-related amyloidosis is caused by the accumulation of beta-2 microglobulin in patients undergoing long-term dialysis.
What is Amyloidosis ?
Amyloidosis is a rare and serious disease that occurs when an abnormal protein, called amyloid, builds up in organs and tissues throughout the body. This accumulation can interfere with normal function and cause damage. The amyloid deposits can affect various organs, including the heart, kidneys, liver, spleen, nervous system, and digestive tract.
Causes of Amyloidosis :
Amyloidosis occurs due to the misfolding of proteins that then aggregate into insoluble amyloid fibrils. The specific causes vary depending on the type of amyloidosis:
- AL (Primary) Amyloidosis: Caused by the abnormal production of light chain proteins by plasma cells. It is often associated with multiple myeloma, a type of blood cancer.
- AA (Secondary) Amyloidosis: Secondary to chronic inflammatory diseases, infections, or malignancies. It involves the deposition of serum amyloid A protein.
- Hereditary Amyloidosis: Caused by inherited mutations in specific genes, leading to abnormal amyloid protein production. The most common form is transthyretin (TTR) amyloidosis.
- Wild-type (Senile) ATTR Amyloidosis: Occurs due to the accumulation of normal transthyretin protein in elderly individuals, primarily affecting the heart.
- Dialysis-related Amyloidosis: Caused by the accumulation of beta-2 microglobulin in patients undergoing long-term dialysis.
Types of Amyloidosis :
- 1. AL (Primary) Amyloidosis
- This type is caused by the overproduction of light chain proteins by plasma cells.
- Often associated with multiple myeloma.
- 2. AA (Secondary) Amyloidosis
- This type is secondary to chronic inflammatory diseases, infections, or malignancies.
- It involves the deposition of serum amyloid A protein.
- 3. Hereditary Amyloidosis
- Caused by inherited mutations in specific genes.
- Transthyretin (TTR) amyloidosis is the most common form.
- 4. Wild-type (Senile) ATTR Amyloidosis
- Occurs due to the accumulation of normal transthyretin protein in elderly individuals.
- Primarily affects the heart.
- 5. Dialysis-related Amyloidosis
- Caused by the accumulation of beta-2 microglobulin in patients undergoing long-term dialysis.
Symptoms of Amyloidosis :
The symptoms of amyloidosis can vary widely depending on the organs affected. Common symptoms include:
- Fatigue: Persistent tiredness and weakness.
- Swelling: Particularly in the legs and ankles.
- Shortness of Breath: Difficulty breathing, especially during physical activity.
- Numbness or Tingling: Especially in the hands and feet.
- Diarrhea or Constipation: Gastrointestinal issues.
- Unintended Weight Loss: Losing weight without trying.
- Enlarged Tongue: In some cases, the tongue can become larger than normal.
- Skin Changes: Easy bruising or purple patches around the eyes.
Diagnosis of Amyloidosis :
Diagnosing amyloidosis involves a combination of medical history, physical examination, and specialized tests, including:
- Blood and Urine Tests: To detect abnormal proteins.
- Biopsy: Tissue sample analysis from affected organs.
- Imaging Tests: MRI, CT scans, and echocardiograms to identify organ damage.
- Genetic Testing: To determine if the condition is hereditary.
Treatment Options :
Treatment for amyloidosis depends on the type and severity of the disease, as well as the organs affected. Common treatments include:
- Medications: To reduce amyloid production and manage symptoms.
- Chemotherapy: Often used for amyloidosis associated with blood cancers.
- Stem Cell Transplant: To replace damaged bone marrow with healthy cells.
- Organ Transplant: In severe cases, a heart, liver, or kidney transplant may be necessary.
- Supportive Care: To manage symptoms and improve quality of life.
Cost of Treatment and Stay in India :
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