What is familial amyloid polyneuropathy?
Transthyretin (TTR) is an amyloidogenic protein with more than 120 TTR gene mutations that can lead to a heterogeneous group of disorders characterized by accumulation of polypeptide amyloid fibrils.
One of the most common mutations is Val30Met mutation, responsible for familial amyloid polyneuropathy.
Patients with Val30Met mutation are classified into two groups, early onset and late onset.
Early-onset patients have marked autonomic dysfunction, including orthostatic hypotension, impotence, disturbance in the bladder contraction and bowel movements, and cardiac conduction blocks.
The late-onset variant presents with mild autonomic dysfunction.
The only treatment for familial amyloidosis is liver transplantation.
When performed early in the course of the disease, it may stop clinical progression and modestly improve symptoms.
