Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.

摘要: Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, part of multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue. It frequently the result mutation in TTR gene, commonly p.Val50Met mutation. TTR-FAP rare autosomal dominant heritable disabling, heterogeneous disease which early diagnosis pivotal importance when attempting treatment. This paper discusses course four Belgian FAP patients with different mutations (p.Val48Met; p.Val52Ala; p.Ala59Val; p.Val50Met). We review differential TTR-FAP, diagnostic studies, follow-up, its current treatment those development, prognosis genetic counseling. At first, misdiagnosed chronic inflammatory demyelinating or idiopathic polyneuropathy. Genetic testing obligatory to confirm except familial cases. Biopsy samples are an asset diagnosing but can be falsely negative. moment, tafamidis meglumine considered first-line stage I neurological disease. Patients eligible for liver transplantation should carefully selected therapy fails.