Heredofamilial amyloidosis
Heredofamilial Amyloidosis
Heredofamilial amyloidosis (pronunciation: heh-red-oh-fa-mil-ee-al am-uh-loi-doh-sis) is a rare genetic disorder characterized by the deposition of abnormal proteins, known as amyloid, in various tissues and organs of the body.
Etymology
The term 'heredofamilial' is derived from the Latin words 'hereditas' meaning inheritance and 'familia' meaning family, indicating that the condition is inherited within families. 'Amyloidosis' comes from the Greek words 'amylo-' meaning starch and '-osis' meaning abnormal condition or disease, referring to the abnormal protein deposits that resemble starch under a microscope.
Symptoms
The symptoms of heredofamilial amyloidosis can vary widely depending on the organs affected. Common symptoms may include fatigue, weight loss, numbness or tingling in the hands and feet (peripheral neuropathy), and heart problems (cardiomyopathy).
Causes
Heredofamilial amyloidosis is caused by mutations in various genes that lead to the production of abnormal proteins. These proteins can accumulate in tissues and organs, leading to the symptoms of the disease. The condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder on to each of their children.
Diagnosis
Diagnosis of heredofamilial amyloidosis is often challenging due to the wide range of symptoms and the rarity of the condition. It typically involves a combination of physical examination, medical history, laboratory tests, and imaging studies. Genetic testing can confirm the diagnosis.
Treatment
Treatment for heredofamilial amyloidosis is aimed at managing symptoms and slowing the progression of the disease. This may include medications, dietary changes, physical therapy, and in some cases, organ transplantation.
Related Terms
External links
- Medical encyclopedia article on Heredofamilial amyloidosis
- Wikipedia's article - Heredofamilial amyloidosis
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