Transthyretin -Related Familial Amyloid Polyneuropathy (TTR-FAP) Polineuropathy – Challenge Diagnosis and Case Presentation

Introduction Transthyretin -Related Familial Amyloid Polyneuropathy (TTR-FAP) is a rare cause of polyneuropathy, mainly in Romania, but also in other geographic area of Europe, Japan and north America.

Polyneuropathies are common in neurology practice, but prevalence and incidence are not known, usually are underreported and misdiagnosis. Almost one third of polyneuropathies remain idiopathic, in spite of extensive work-out to identify etiology. Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a multisystemic disease neurological manifestation caused by the accumulation of amyloidogenic transthyretin (TTR) protein in tissues. It is an autosomal dominant syndrome, and there are more than 100 forms of TTr associated with FAP. The disease is characterized by progressive peripheral and autonomic neuropathy, and visceral amyloid involvement like cardiac amyloidosis.

Case presentation We present the case of a male, aged 48, who experienced from 18 month paresthesias of distal inferior limb and fatigue, with an important weight loss. The patient was diagnosed with mixed polyneuropathy, and he was extensively investigated. Etiology was not established. He began to feel dizziness and faints several times, and these new features lead to our final diagnosis.

Conclusions Etiology of a polyneuropathy case could be very challenging for general neurologist due to a numerous causes. A large variety of signs and symptoms lead the clinician to a narrow diagnostic possibilities and still this might take a long time. Polyneuropathy and cardiac involvement make a mark for life threatening disease but potentially curable