Familial Amyloidosis is spelled with four syllables, /fəˈmɪliəl ˌæmələˈdoʊsɪs/. The initial syllable, "fam" is pronounced like "fam" in family. The second and third syllables are nearly identical and pronounced like "uh" in "a". Lastly, the fourth syllable, "osis", is pronounced like "oh-sis". Familial Amyloidosis is a rare genetic disorder in which proteins called amyloids build up in organs and tissues, causing damage and dysfunction. Symptoms often include peripheral neuropathy, gastrointestinal issues, and sometimes kidney or heart failure.
Familial amyloidosis is a rare inherited disorder characterized by the deposition of abnormal protein aggregates, known as amyloid fibrils, in various tissues and organs of the body. These fibrils are composed of a protein called amyloid, which is derived from a precursor protein that is usually produced by the liver.
In familial amyloidosis, there is a genetic mutation that causes an abnormal production or processing of the precursor protein, leading to the formation of insoluble amyloid fibrils. These fibrils can accumulate and deposit in organs such as the liver, kidneys, heart, nervous system, and gastrointestinal tract, causing dysfunction and damage over time.
The symptoms and severity of familial amyloidosis can vary greatly depending on the specific mutation and the organs affected. Common symptoms may include progressive nerve damage, gastrointestinal disturbances, heart problems, and kidney dysfunction. In some cases, the disorder can be life-threatening if vital organs are severely affected.
Diagnosis of familial amyloidosis often involves a combination of clinical evaluation, tissue biopsy, genetic testing, and imaging studies. Treatment options for familial amyloidosis are currently limited and mainly focus on managing the symptoms and complications. Liver transplantation may be considered in some cases to prevent further production of the abnormal precursor protein.
Overall, familial amyloidosis is a genetic disorder characterized by the accumulation of abnormal amyloid protein in various organs, resulting in organ dysfunction and potential life-threatening complications.
The term "Familial Amyloidosis" is composed of two components: "familial" and "amyloidosis".
1. "Familial" originates from the Latin word "familia", which denotes a household or family unit. It refers to conditions or diseases that have a hereditary or genetic basis, meaning they are passed down within families.
2. "Amyloidosis" is derived from the term "amyloid", which derives from the Greek word "amyloeidēs", meaning starch-like. The suffix "-osis" indicates a condition or pathological process. In medical terminology, amyloidosis refers to a group of disorders characterized by the abnormal accumulation of amyloid proteins in various organs or tissues.
Thus, "Familial Amyloidosis" denotes a hereditary condition involving the accumulation of amyloid proteins.