Symptoms of Familial Amyloid Polyneuropathy

Overview

Familial amyloid polyneuropathy (FAP) is a multisystem disorder caused by deposits of amyloid fibrils in the nerves and organs, commonly due to mutations in the TTR gene, Because amyloid fibrils gradually accumulate in different organs and tissues, FAP can lead to a variety of symptoms, including neuropathy and heart symptoms.

Autonomic Neuropathy Symptoms

The autonomic nervous system is part of the nervous system that controls and regulates the internal organs without conscious recognition. Autonomic neuropathy, or damage to the autonomic nervous system, is the most severe problem in FAP because it has a significant impact on patients’ daily lives.

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Cardiac Symptoms

Cardiac involvement has been reported in about 5–23% of FAP cases. Older patients with FAP are at higher risk of developing cardiac complications, and 80% of FAP patients with cardiac involvement are men.

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Peripheral Neuropathy Symptoms

One of the most common symptoms of FAP is peripheral neuropathy — a loss of nerve function in the periphery of the body, including the feet, legs, hands, and arms. Carpal tunnel syndrome is one of the most commonly reported symptoms of peripheral neuropathy in FAP patients.