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Hereditary transthyretin amyloidosis in multi-ethnic Malaysians

We report the clinical and genetic characteristics of hereditary transthyretin amyloidosis in the multi-ethnic Malaysian population. Subjects with genetically confirmed transthyretin amyloidosis seen between 2001 till August 2020 were included. There were 30 patients and 14 asymptomatic carriers, of...

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Main Authors:	Low, Soon-Chai, Md Sari, Nor Ashikin, Tan, Cheng-Yin, Ahmad-Annuar, Azlina, Wong, Kum-Thong, Law, Wan-Chung, Sim, Rachel Siew-Hung, Lin, Kon-Ping, Shahrizaila, Nortina, Goh, Khean-Jin
Format:	Article
Published:	Pergamon-Elsevier Science Ltd 2021
Subjects:	RC Internal medicine
Online Access:	http://eprints.um.edu.my/34367/
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spelling	my.um.eprints.343672022-06-09T04:57:37Z http://eprints.um.edu.my/34367/ Hereditary transthyretin amyloidosis in multi-ethnic Malaysians Low, Soon-Chai Md Sari, Nor Ashikin Tan, Cheng-Yin Ahmad-Annuar, Azlina Wong, Kum-Thong Law, Wan-Chung Sim, Rachel Siew-Hung Lin, Kon-Ping Shahrizaila, Nortina Goh, Khean-Jin RC Internal medicine We report the clinical and genetic characteristics of hereditary transthyretin amyloidosis in the multi-ethnic Malaysian population. Subjects with genetically confirmed transthyretin amyloidosis seen between 2001 till August 2020 were included. There were 30 patients and 14 asymptomatic carriers, of which 26 (59.1%) were men. The majority (86.7%) were ethnic Chinese while two (6.7%) each were Malay and Sri Lankan Tamil ethnicity respectively. Among patients, mean age of symptom-onset was 55.9 +/- 9.8 years with mean duration from symptom-onset to diagnosis of 3.2 +/- 2.5 years. Common presenting symptoms were sensory symptoms of upper limbs (43.3%), symmetric sensory symptoms of both lower limbs (16.7%) and autonomic symptoms (16.7%). Nerve conduction studies showed sensorimotor polyneuropathy in 25 (83.3%) patients (22, axonal). Abnormal echocardiograms were seen in 24 (80%) patients, although 15 were asymptomatic. Of six different TTR mutations found, Ala97Ser was the commonest, and found exclusively in 84.6% of Chinese patients. Other mutations among Chinese patients were Val30Met, Ala25Thr and Asp39Val. Our Malay and Tamil patients had Glu54Lys and Gly47Val mutations respectively. In conclusion, TTR Ala97Ser is the commonest mutation among ethnic Chinese Malaysians which presented with late-onset progressive sensorimotor polyneuropathy, autonomic dysfunction and subclinical cardiac involvement. (C) 2021 Elsevier B.V. All rights reserved. Pergamon-Elsevier Science Ltd 2021-07 Article PeerReviewed Low, Soon-Chai and Md Sari, Nor Ashikin and Tan, Cheng-Yin and Ahmad-Annuar, Azlina and Wong, Kum-Thong and Law, Wan-Chung and Sim, Rachel Siew-Hung and Lin, Kon-Ping and Shahrizaila, Nortina and Goh, Khean-Jin (2021) Hereditary transthyretin amyloidosis in multi-ethnic Malaysians. Neuromuscular Disorders, 31 (7). pp. 642-650. ISSN 0960-8966, DOI https://doi.org/10.1016/j.nmd.2021.03.008 <https://doi.org/10.1016/j.nmd.2021.03.008>. 10.1016/j.nmd.2021.03.008
institution	Universiti Malaya
building	UM Library
collection	Institutional Repository
continent	Asia
country	Malaysia
content_provider	Universiti Malaya
content_source	UM Research Repository
url_provider	http://eprints.um.edu.my/
topic	RC Internal medicine
spellingShingle	RC Internal medicine Low, Soon-Chai Md Sari, Nor Ashikin Tan, Cheng-Yin Ahmad-Annuar, Azlina Wong, Kum-Thong Law, Wan-Chung Sim, Rachel Siew-Hung Lin, Kon-Ping Shahrizaila, Nortina Goh, Khean-Jin Hereditary transthyretin amyloidosis in multi-ethnic Malaysians
description	We report the clinical and genetic characteristics of hereditary transthyretin amyloidosis in the multi-ethnic Malaysian population. Subjects with genetically confirmed transthyretin amyloidosis seen between 2001 till August 2020 were included. There were 30 patients and 14 asymptomatic carriers, of which 26 (59.1%) were men. The majority (86.7%) were ethnic Chinese while two (6.7%) each were Malay and Sri Lankan Tamil ethnicity respectively. Among patients, mean age of symptom-onset was 55.9 +/- 9.8 years with mean duration from symptom-onset to diagnosis of 3.2 +/- 2.5 years. Common presenting symptoms were sensory symptoms of upper limbs (43.3%), symmetric sensory symptoms of both lower limbs (16.7%) and autonomic symptoms (16.7%). Nerve conduction studies showed sensorimotor polyneuropathy in 25 (83.3%) patients (22, axonal). Abnormal echocardiograms were seen in 24 (80%) patients, although 15 were asymptomatic. Of six different TTR mutations found, Ala97Ser was the commonest, and found exclusively in 84.6% of Chinese patients. Other mutations among Chinese patients were Val30Met, Ala25Thr and Asp39Val. Our Malay and Tamil patients had Glu54Lys and Gly47Val mutations respectively. In conclusion, TTR Ala97Ser is the commonest mutation among ethnic Chinese Malaysians which presented with late-onset progressive sensorimotor polyneuropathy, autonomic dysfunction and subclinical cardiac involvement. (C) 2021 Elsevier B.V. All rights reserved.
format	Article
author	Low, Soon-Chai Md Sari, Nor Ashikin Tan, Cheng-Yin Ahmad-Annuar, Azlina Wong, Kum-Thong Law, Wan-Chung Sim, Rachel Siew-Hung Lin, Kon-Ping Shahrizaila, Nortina Goh, Khean-Jin
author_facet	Low, Soon-Chai Md Sari, Nor Ashikin Tan, Cheng-Yin Ahmad-Annuar, Azlina Wong, Kum-Thong Law, Wan-Chung Sim, Rachel Siew-Hung Lin, Kon-Ping Shahrizaila, Nortina Goh, Khean-Jin
author_sort	Low, Soon-Chai
title	Hereditary transthyretin amyloidosis in multi-ethnic Malaysians
title_short	Hereditary transthyretin amyloidosis in multi-ethnic Malaysians
title_full	Hereditary transthyretin amyloidosis in multi-ethnic Malaysians
title_fullStr	Hereditary transthyretin amyloidosis in multi-ethnic Malaysians
title_full_unstemmed	Hereditary transthyretin amyloidosis in multi-ethnic Malaysians
title_sort	hereditary transthyretin amyloidosis in multi-ethnic malaysians
publisher	Pergamon-Elsevier Science Ltd
publishDate	2021
url	http://eprints.um.edu.my/34367/
_version_	1735570303124242432
score	13.211869

Hereditary transthyretin amyloidosis in multi-ethnic Malaysians

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