Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese Patient
نویسندگان
چکیده
Familial amyloid polyneuropathy (FAP) is a group of disorders characterized by the extracellular deposition of amyloid substance in various tissues. The peripheral nervous system and the heart are the main target organs, but the eye may also be involved. We report a case of vitreous amyloidosis as the first manifestation of FAP in a 66-year-old Portuguese man without a family history.
منابع مشابه
End-stage renal disease in familial amyloidosis ATTR Val30Met: a definitive indication to combined liver-kidney transplantation.
AUTOSOMAL dominant amyloidoses characterized so far are most commonly associated with transthyretin (TTR), a plasma protein synthesized by the liver. The single gene for TTR is located on human chromosome 18; more than 70 TTR mutations have been documented. The most common type of hereditary amyloidosis is familial amyloid polyneuropathy type I (FAP, Portuguese type), a neuropathic form associa...
متن کاملMonitoring safety and effectiveness of Tafamidis in transthyretin amyloidosis in Italy: a 3-year longitudinal multicenter study in a non-endemic area
Background Tafamidis is a transthyretin (TTR) stabilizer able to prevent mutated TTR tetramer dissociation into amyloidogenic monomers. There have been a few encouraging studies on safety and long-term efficacy of Tafamidis in early-onset Val30Met TTR-familial amyloid polyneuropathy (TTR-FAP) patients. However, less is known about its efficacy in later stages of the disease and in non-Val30Met ...
متن کاملSevere heart disease in an unusual case of familial amyloid polyneuropathy type I.
Familial amyloid polyneuropathy type I (FAP type I) is a rare hereditary systemic amyloidosis caused by the Val30Met mutation in the transthyretin (TTR) gene. The clinical onset and spectrum are variable and depend on phenotypic heterogeneity. Cardiac complications (dysrhythmias and conduction disturbances, cardiomyopathy and dysautonomia) indicate a poor prognosis, even after liver transplanta...
متن کاملDiagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilizatio...
متن کاملPiB-PET detects transthyretin-related cerebral amyloid angiopathy.
Transthyretin (TTR) is an amyloidogenic protein synthesized primarily (.95%) by the liver and, to a lesser extent, by the choroid plexuses and retinal pigment epithelium. Hereditary TTR amyloidosis (ATTR) is a multisystem disorder that may manifest with 3 main clinical phenotypes: familial amyloid polyneuropathy (FAP), familial amyloid cardiomyopathy, and familial leptomeningeal amyloidosis. TT...
متن کامل