Familial amyloid polyneuropathy

Familial Amyloid Polyneuropathy (pronunciation: fa-mil-ial a-my-loid pol-ee-nu-ro-pa-thy) is a rare, inherited, progressive disease that is characterized by the buildup of abnormal protein deposits known as amyloid in the body's organs and tissues. The term "familial" refers to the disease's hereditary nature, while "amyloid" refers to the abnormal protein deposits, and "polyneuropathy" refers to the damage to multiple peripheral nerves.

Etymology

The term "Familial Amyloid Polyneuropathy" is derived from several words. "Familial" comes from the Latin word "familia", meaning family, indicating the disease's hereditary nature. "Amyloid" is derived from the Greek words "amylon", meaning starch, and "oid", meaning like, referring to the starch-like protein deposits. "Polyneuropathy" comes from the Greek words "poly", meaning many, "neuro", meaning nerve, and "pathy", meaning disease, referring to the multiple nerves affected by the disease.

Symptoms

The symptoms of Familial Amyloid Polyneuropathy can vary widely, depending on which organs are affected. Common symptoms include neuropathy, cardiomyopathy, and gastrointestinal disorders. Neuropathy can lead to numbness, tingling, and weakness in the limbs, while cardiomyopathy can cause heart failure. Gastrointestinal disorders can result in diarrhea, constipation, and weight loss.

Diagnosis

Diagnosis of Familial Amyloid Polyneuropathy is often challenging due to the wide range of symptoms and the rarity of the disease. It typically involves a combination of clinical evaluation, family history, and specialized tests such as genetic testing, biopsy, and imaging studies.

Treatment

Treatment for Familial Amyloid Polyneuropathy is aimed at managing symptoms and slowing the progression of the disease. This may involve medications to manage neuropathy and cardiomyopathy, dietary changes to manage gastrointestinal symptoms, and in some cases, organ transplantation.

Related Terms

• Amyloidosis
• Peripheral Neuropathy
• Cardiomyopathy
• Genetic Disorders

External links

• Medical encyclopedia article on Familial amyloid polyneuropathy
• Wikipedia's article - Familial amyloid polyneuropathy

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