Wild-type transthyretin amyloid
Wild-type transthyretin amyloidosis
Wild-type transthyretin amyloidosis (pronounced: wild type trans-thy-ret-in am-uh-loi-doh-sis), also known as ATTRwt or senile systemic amyloidosis, is a rare, late-onset, progressive, and fatal disease characterized by the deposition of amyloid fibrils, primarily in the heart.
Etymology
The term "wild-type" refers to the natural, non-mutated form of a gene. "Transthyretin" is a protein that carries thyroxine and retinol-binding protein. "Amyloidosis" refers to a group of diseases characterized by the abnormal accumulation of the protein amyloid in tissues and organs.
Definition
Wild-type transthyretin amyloidosis is a systemic disorder caused by the deposition of insoluble, misfolded, wild-type transthyretin protein in various organs, most commonly the heart. This leads to progressive organ dysfunction and failure.
Symptoms
Symptoms of wild-type transthyretin amyloidosis can vary widely and are often nonspecific, making diagnosis challenging. They may include fatigue, shortness of breath, swelling in the legs and ankles, irregular heartbeat, and weight loss.
Diagnosis
Diagnosis of wild-type transthyretin amyloidosis typically involves a combination of clinical evaluation, laboratory tests, imaging studies, and sometimes tissue biopsy. Genetic testing can help differentiate wild-type transthyretin amyloidosis from hereditary forms of the disease.
Treatment
Treatment for wild-type transthyretin amyloidosis is primarily supportive and aims to manage symptoms and slow disease progression. This may include medications to manage heart failure and arrhythmias, and in some cases, organ transplantation.
Prognosis
The prognosis for wild-type transthyretin amyloidosis is generally poor, with a median survival of 3-5 years from diagnosis. However, early detection and treatment can improve outcomes.
See also
External links
- Medical encyclopedia article on Wild-type transthyretin amyloid
- Wikipedia's article - Wild-type transthyretin amyloid
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