HEREDITARY AMYLOIDOSES Meaning and
Definition
-
Hereditary amyloidoses, also known as familial amyloidoses, refer to a group of inherited disorders characterized by the abnormal accumulation of insoluble proteins, known as amyloids, in various tissues of the body. These disorders are caused by genetic mutations that result in the production of abnormal or mutated proteins that are prone to misfolding and aggregation.
Amyloidosis can affect multiple organ systems, leading to a wide range of symptoms and complications. The specific presentation and severity vary depending on the type of hereditary amyloidosis involved. Some common forms include transthyretin-related amyloidosis (ATTR), familial amyloid polyneuropathy (FAP), and familial amyloid cardiomyopathy (FAC).
In hereditary amyloidoses, the mutated or abnormal protein tends to accumulate primarily in specific tissues or organs, such as the heart, liver, kidneys, nerves, or gastrointestinal system. This progressive deposition of amyloid fibrils interferes with normal organ function, leading to the development of symptoms such as heart failure, renal dysfunction, neuropathy, gastrointestinal disturbances, or other organ-specific problems.
Hereditary amyloidoses are inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the genetic mutation to their offspring. Diagnosis often involves genetic testing, imaging studies, and biopsy of affected tissues.
Treatment options for hereditary amyloidoses focus on managing symptoms, slowing disease progression, and preventing complications. This may include medications, organ-specific interventions, supportive therapies, and, in some cases, liver or stem cell transplantation. The prognosis and progression of the disease can vary widely, depending on the specific type of hereditary amyloidosis involved and the individual's response to treatment.
Common Misspellings for HEREDITARY AMYLOIDOSES
- gereditary amyloidoses
- bereditary amyloidoses
- nereditary amyloidoses
- jereditary amyloidoses
- uereditary amyloidoses
- yereditary amyloidoses
- hwreditary amyloidoses
- hsreditary amyloidoses
- hdreditary amyloidoses
- hrreditary amyloidoses
- h4reditary amyloidoses
- h3reditary amyloidoses
- heeeditary amyloidoses
- hededitary amyloidoses
- hefeditary amyloidoses
- heteditary amyloidoses
- he5editary amyloidoses
- he4editary amyloidoses
- herwditary amyloidoses
- hersditary amyloidoses
Etymology of HEREDITARY AMYLOIDOSES
The word "hereditary amyloidoses" can be traced back to its two main components: "hereditary" and "amyloidoses".
1. Hereditary: The word "hereditary" relates to something that is genetically passed down from one generation to another. It derives from the Latin word "heredītārius", meaning "inheritable" or "pertaining to inheritance".
2. Amyloidoses: This term refers to a group of diseases characterized by the deposition of abnormal proteins, known as amyloid, in various organs of the body. The word "amyloid" originates from the Latin word "amylum", meaning "starch", and the Greek word "-oid", meaning "resembling". This is because amyloids often have a starch-like appearance.
