ATTRV30M amyloidosis
ORPHA:85447· ICD-10 E85.1
Definition
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, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Adult