Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a rare, life-threatening disease, caused by point mutations in the transthyretin gene.
Although not described previously, elevated IOP may develop in patients with vitreous amyloidosis due to a TTR Val30Gly mutation in the transthyretin gene.
A comprehensive computer literature search of studies published up to 30 November 2017 on the role of bone scintigraphy in patients with ATTR was performed using the following search algorithm: (a) "amyloid" OR "amyloidosis" AND (b) "TTR" OR "ATTR" OR "transthyretin" AND (c) "scintigraphy" OR "scan" OR "SPECT" OR "SPET" OR "bone" OR "skeletal" OR "skeleton" OR "PYP" OR "DPD" OR "HMDP" OR "MDP" OR "HDP".
Proportion between wild-type and mutant protein in truncated compared to full-length ATTR: an analysis on transplanted transthyretinT60Aamyloidosis patients.
Transthyretin familial amyloid polyneuropathy is a hereditary form of amyloidosis characterized by sensorimotor and autonomic neuropathy, cardiac conduction defects, and infiltrative cardiomyopathy.
Transthyretin (TTR) is a serum protein that is also a prominent component of deposits in two different types of systemic amyloid disease, senile systemic and familial TTRamyloidoses.
Besides the well-known mechanisms of immune activation and inflammation in atherosclerosis causing ischemic cardiomyopathy or myocarditis, attention is focused on other mechanisms leading to heart failure such as transthyretin (TTR) amyloidosis or heart failure with preserved ejection fraction.
Central nervous system (CNS) complications are increasingly noted in liver transplanted (LTx) hereditary transthyretinamyloid (ATTRm) amyloidosis patients; this suggests that the increased survival allows for intracranial ATTRm formation from brain synthesized mutant TTR.
The demonstration, by immunohistochemistry and laser micro dissection-mass spectrometry (LMD/MS) that the amyloid fibrils were composed of TTR, in conjunction with a typical FAP phenotype, indicates that the novel TTR mutation was the cause of amyloidosis.
Only one patient in our study had light chain amyloidosis and showed higher TBR than patients with transthyretinamyloid: TBR 3.0 versus TBR median 1.44, IQR 1.33-1.69.