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Amyloidosis – Symptoms and causes

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Amyloidosis is a serious health condition in which amyloid also called as abnormal protein builds up on the organs and tissues, thus affecting their working and shape. When the organs fail, it can be life threatening.

Deposits of Amyloid may take place in just one area of the body or all through the body. Proteins of different kinds can lead to Amyloid deposit formation, however just a few of them have been linked to significant problems to health. Amyloidosis is of different types including Primary Systemic AL Amyloidosis, Secondary (Systemic AA) Amyloidosis, Dialysis-Related Amyloidosis (DRA), Familial or Hereditary, Amyloidosis (AF), Senile Systemic Amyloidosis (SSA) And Organ-Specific Amyloidosis.

Primary (Systemic AL) Amyloidosis commonly affects certain nerves, intestines, liver, heart and kidney in people with blood cancer. Secondary (Systemic AA) Amyloidosis commonly affects the lymph nodes, adrenal gland, live, kidneys and spleen. Dialysis-Related Amyloidosis (DRA) affects most commonly the tendons, joints and bones. Familial or Hereditary Amyloidosis (AF) is caused by an abnormal protein called Amyloid Transthyretin (TTR) and is a rare form passed down through families. Senile Systemic Amloidosis (SSA) is caused in older men commonly where the disease causes deposits of normal TTR in the tissues and heart. In the case of Organ-Specific Amyloidosis, the amyloid protein is deposited in the skin or any single organ.

Cardiac Amyloidosis is a condition in which muscles of the heart stiffen due to Amyloid deposits. Muscles of the heart get weaker after which the heart’s electrical rhythm gets affected. Blood flow to the heart is less and the heart finds it difficult to pump blood. It leads to nausea, swelling in ankles and feet, fatigue and weakness.  In Renal Amyloidosis the kidneys are unable to filter toxins and waste from the blood due to which dangerous toxins build up in the body. It leads to high protein levels in urine, puffiness around the eyes and swelling of the ankles and feet. Gastrointestinal Amyloidosis is a condition in which the muscle contractions in the GI tract slow down thus causing interference in digestion. Symptoms include weight loss, decreased appetite, stomach pain, nausea and diarrhea.

As a person grows older, the risk of Amyloidosis increases. As compared to women, men get the disease more often with Multiple Myeloma, a form of cancer. People on long term dialysis and at the end stage of cancer of kidney are more prone to be affected by Amyloidosis.

Subtle symptoms of Amyloidosis are generally experienced but variations can be seen depending upon where collection of amyloid protein occurs in the body. General symptoms include weight loss, change in skin color, weakness, clay-colored stools, weak hand grip, fatigue, numbness and tingling in feet and legs, joint pain, swelling of the tongue, feeling of fullness and feeling anemic.

Diagnosis of Amyloidosis includes thorough physical examination, checking out medical history of the patient, free light chain assays or electrophoresis, biopsy, genetic testing, urine and blood test and imaging tests.

Amyloidosis has no cure. To suppress amyloid forming protein and to manage symptoms, treatments are prescribed by the doctor. Depending upon type of Amyloidosis, high dose chemotherapy with stem cell transplantation, chemotherapy medication, powerful anti-inflammatory medicines or steroids, liver transplant, heart transplant or kidney transplant is recommended.

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