Familial Portuguese Polyneurotic Amyloidosis

Familial Portuguese Polyneurotic Amyloidosis is known by many names such as transthyretin-related hereditary amyloidosis, transthyretin amyloidosis, Corino de Andrade’s disease, Portuguese polyneuritic amyloidosis, familial amyloid polyneuropathy, Swiss type amyloid polyneuropathy, and Transthyretin familial amyloid polyneuropathy.

This is genetic condition is often manifested in adulthood (from 20s to 70s) and is characterized by the accumulation of amyloid, a protein linked to the development of various diseases, in nerve cells. This abnormal build-up leads to problems in sensation, mobility, and digestion. In its most serious form, the heart is affected and is manifested as cardiomegaly and/or arrhythmia.

The specific symptoms include shortness of breath, hearing loss, enlarged tongue, weight loss, bruising, fatigue, heart failure, arthritis, malabsorption, diarrhea, liver damage, carpal tunnel syndrome, tingling, numbness, and lack of appetite. Most of the patients are with Portuguese, Japanese, or Swedish ancestry who have a mutated TTR gene (gives instructions for producing the protein transthyretin).