Case report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutation

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Date
2019Author
Salihoglu, AyseYildirim, Suleyman
Ar, Muhlis Cem
Hancer, Veysel Sabri
Bozcan, Selma
Yilmaz, Umut
Serin, Nergis
Tuzuner, Nukhet
Celik, Aykut Ferhat
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Salihoglu, A., Yildirim, S., Ar, M. C., Hancer, V. S., Bozcan, S., Yilmaz, U., ... & Celik, A. F. (2019). Case report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutation. Amyloid, 26(sup1), 75-76.Abstract
Hereditary transthyretin-mediated amyloidosis (hATTR) is a
rare, systemic and progressive autosomal dominant disease
caused by mutations in the TTR gene. Systemic deposition
of amyloidogenic mutant transthyretin results in organ dysfunction
[1]. While the Val30Met has been considered to be
the most common mutation there have been more than 120
amyloidogenic TTR mutations reported worldwide [2].
Phenotypic expression of hATTR is heterogeneous and
influenced by TTR genotype, geographic location and other
genetic and environmental factors [3]. The heterogeneity of
this rare disease makes its diagnosis challenging.