Patient-reported outcomes on familial amyloid polyneuropathy (FAP)
نویسندگان
چکیده
منابع مشابه
Ophtalmologic changes in transthyretin familial amyloid polyneuropathy (ATTR-FAP)
Background Familial amyloid polyneuropathy (FAP) is an inherited disorder with autosomal dominant transmission and multiple phenotypes, characterized by systemic accumulation of amyloid fibrils. The most common type of FAP is related to a mutant transthyretin (TTR). TTR is mainly synthesized in the liver, but few amount of TTR is produced in the eye, namely in retinal pigment epithelium, which ...
متن کاملTransthyretin familial amyloid polyneuropathy (TTR‐FAP): Parameters for early diagnosis
Background Familial transthyretin amyloidosis is a life-threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) and compared them to polyneuropathies of different etiology for cli...
متن کاملFamilial amyloid polyneuropathy.
PURPOSE OF REVIEW Transthyretin familial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fibers involvement, expert's consensus for both symptomatic and asymptomatic follow-up, and treatme...
متن کاملFamilial amyloid polyneuropathy.
Familial amyloid polyneuropathies (FAPs) are a group of life-threatening multisystem disorders transmitted as an autosomal dominant trait. Nerve lesions are induced by deposits of amyloid fibrils, most commonly due to mutated transthyretin (TTR). Less often the precursor of amyloidosis is mutant apolipoprotein A-1 or gelsolin. The first identified cause of FAP-the TTR Val30Met mutation-is still...
متن کاملThe hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M
Background Familial amyloid polyneuropathy (FAP ATTRV30M) is an autosomal dominant systemic amyloidosis, due to a point mutation in the transthyretin (TTR) gene (chr18q12.1). The most frequent one, V30M is associated with several clusters. Among Portuguese families, FAP shows a wide variation in in age-at-onset (AO) [19-82 yrs] and this variability is also apparent between generations. Also, si...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01575-6