Arvelig TTR amyloidose
Engelsk navn: ATTRV30M amyloidosis
Engelske synonym: ATTRV30M-related amyloidosis,Familial amyloid polyneuropathy type I,Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type,TTR amyloid neuropathy,Transthyretin amyloid neuropathy,Transthyretin amyloid polyneuropathy
Definisjon
A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
Fra Orphanet
ORPHA: 85447
Klassifiseringsnivå: Disorder
ICD-10: E85.1
