Late-Onset Hereditary Transthyretin Amyloidosis Val30Met in an Elderly Person in a Non-Endemic Area

被引:1
作者
Wang, Shun [1 ]
Sun, Jingping [2 ]
Lu, Qun [1 ]
Li, Hao [3 ]
Zhang, Yun [4 ]
机构
[1] Xi An Jiao Tong Univ, Affiliated Hosp 1, Dept Cardiol, Xian, Shaanxi, Peoples R China
[2] Cleveland Clin Fdn, Dept Cardiol, Cleveland, OH 44195 USA
[3] Xi An Jiao Tong Univ, Affiliated Hosp 1, ICU, Xian, Shaanxi, Peoples R China
[4] Xi An Jiao Tong Univ, Affiliated Hosp 1, Dept Imaging Med, Xian, Shaanxi, Peoples R China
来源
INTERNATIONAL MEDICAL CASE REPORTS JOURNAL | 2022年 / 15卷
关键词
hereditary transthyretin amyloidosis; familial amyloid polyneuropathy; cardiac amyloidosis; speckle tracking imaging; POLYNEUROPATHY; DIAGNOSIS;
D O I
10.2147/IMCRJ.S357236
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Introduction: Patients with late-onset transthyretin Val30Met-associated hereditary transthyretin amyloidosis (hATTR) in non-endemic areas still remain undiagnosed because of diverse clinical presentations and various non-specific symptoms. Case Presentation: A 76-year-old male patient presented with progressive numbness, pain and weakness in his limbs, sweating, constipation and unexplained weight loss over the past seven years. He has shortness of breath, edema and hypotension for one month. The low QRS voltage on limb leads was not consistent with left ventricular hypertrophy, which is an important clue of cardiac amyloidosis (CA). The results of echocardiography speckle tracking imaging were consistent with CA. Serum immunofixation electrophoresis was negative, and serum-free light chain F kappa/F lambda ratio is normal or close to normal (0.26-1.65) for the patient, so AL amyloidosis can be excluded. A missense mutation c. 148 G-A Val30Met (p.Val50Met) was detected in TTR gene sequencing. The genetic finding confirmed hATTR Val30Met, familial amyloid polyneuropathy (FAP) and CA for the patient. The treatment effect was poor, and he died of cardiac involvement. Conclusion: It is challenge to make early diagnosis in patients with hATTR, due to the diversity of symptoms. Echocardiography is a vital tool in initial diagnosis. Genetic testing played vital roles in the definitive diagnosis of this disease. Raising awareness is critical for early diagnosis and provides opportunities for early treatment.
引用
收藏
页码:299 / 306
页数:8
相关论文
共 17 条
[1]   Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy [J].
Adams, David ;
Ando, Yukio ;
Beirao, Joao Melo ;
Coelho, Teresa ;
Gertz, Morie A. ;
Gillmore, Julian D. ;
Hawkins, Philip N. ;
Lousada, Isabelle ;
Suhr, Ole B. ;
Merlini, Giampaolo .
JOURNAL OF NEUROLOGY, 2021, 268 (06) :2109-2122
[2]   Amyloid neuropathies [J].
Adams, David ;
Lozeron, Pierre ;
Lacroix, Catherine .
CURRENT OPINION IN NEUROLOGY, 2012, 25 (05) :564-572
[3]   Guideline of transthyretin-related hereditary amyloidosis for clinicians [J].
Ando, Yukio ;
Coelho, Teresa ;
Berk, John L. ;
Cruz, Marcia Waddington ;
Ericzon, Bo-Goran ;
Ikeda, Shu-ichi ;
Lewis, W. David ;
Obici, Laura ;
Plante-Bordeneuve, Violaine ;
Rapezzi, Claudio ;
Said, Gerard ;
Salvi, Fabrizio .
ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
[4]   Identification of Transthyretin Cardiac Amyloidosis Using Serum Retinol-Binding Protein 4 and a Clinical Prediction Model [J].
Arvanitis, Marios ;
Koch, Clarissa M. ;
Chan, Gloria G. ;
Torres-Arancivia, Celia ;
LaValley, Michael P. ;
Jacobson, Daniel R. ;
Berk, John L. ;
Connors, Lawreen H. ;
Ruberg, Frederick L. .
JAMA CARDIOLOGY, 2017, 2 (03) :305-313
[5]   Diagnosis and Screening of Patients with Hereditary Transthyretin Amyloidosis (hATTR): Current Strategies and Guidelines [J].
Benson, M. D. ;
Dasgupta, N. R. ;
Rao, R. .
THERAPEUTICS AND CLINICAL RISK MANAGEMENT, 2020, 16 :749-758
[6]   Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis [J].
Benson, M. D. ;
Waddington-Cruz, M. ;
Berk, J. L. ;
Polydefkis, M. ;
Dyck, P. J. ;
Wang, A. K. ;
Plante-Bordeneuve, V. ;
Barroso, F. A. ;
Merlini, G. ;
Obici, L. ;
Scheinberg, M. ;
Brannagan, T. H., III ;
Litchy, W. J. ;
Whelan, C. ;
Drachman, B. M. ;
Adams, D. ;
Heitner, S. B. ;
Conceicao, I. ;
Schmidt, H. H. ;
Vita, G. ;
Campistol, J. M. ;
Gamez, J. ;
Gorevic, P. D. ;
Gane, E. ;
Shah, A. M. ;
Solomon, S. D. ;
Monia, B. P. ;
Hughes, S. G. ;
Kwoh, T. J. ;
McEvoy, B. W. ;
Jung, S. W. ;
Baker, B. F. ;
Ackermann, E. J. ;
Gertz, M. A. ;
Coelho, T. .
NEW ENGLAND JOURNAL OF MEDICINE, 2018, 379 (01) :22-31
[7]   The molecular biology and clinical features of amyloid neuropathy [J].
Benson, Merrill D. ;
Kincaid, John C. .
MUSCLE & NERVE, 2007, 36 (04) :411-423
[8]   Tafamidis for transthyretin familial amyloid polyneuropathy A randomized, controlled trial [J].
Coelho, Teresa ;
Maia, Luis F. ;
da Silva, Ana Martins ;
Cruz, Marcia Waddington ;
Plante-Bordeneuve, Violaine ;
Lozeron, Pierre ;
Suhr, Ole B. ;
Campistol, Josep M. ;
Conceicao, Isabel Maria ;
Schmidt, Hartmut H. -J. ;
Trigo, Pedro ;
Kelly, Jeffery W. ;
Labaudinie, Richard ;
Chan, Jason ;
Packman, Jeff ;
Wilson, Amy ;
Grogan, Donna R. .
NEUROLOGY, 2012, 79 (08) :785-792
[9]  
Coutinho P., 1980, Amyloid and amyloidosis. International congress series no. 497, P88
[10]   Liver Transplantation for Hereditary Transthyretin Amyloidosis: After 20 Years Still the Best Therapeutic Alternative? [J].
Ericzon, Bo-Goran ;
Wilczek, Henryk E. ;
Larsson, Marie ;
Wijayatunga, Priyantha ;
Stangou, Arie ;
Pena, Joao Rodrigues ;
Furtado, Emanuel ;
Barroso, Eduardo ;
Daniel, Jorge ;
Samuel, Didier ;
Adam, Rene ;
Karam, Vincent ;
Poterucha, John ;
Lewis, David ;
Ferraz-Neto, Ben-Hur ;
Cruz, Marcia Waddington ;
Munar-Ques, Miguel ;
Fabregat, Juan ;
Ikeda, Shu-ichi ;
Ando, Yukio ;
Heaton, Nigel ;
Otto, Gerd ;
Suhr, Ole .
TRANSPLANTATION, 2015, 99 (09) :1847-1854