Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

Choi, Kyomin; Seok, Jin Myoung; Kim, Byoung Joon; Choi, Young Cheol; Shin, Ha Young; Sunwoo, Il Nam; Kim, Dae Seong; Sung, Jung Joon; Lee, Ga Yeon; Jeon, Eun Seok; Kim, Nam Hee; Min, Ju Hong; Oh, Jeeyoung

doi:10.3988/jcn.2018.14.4.537

Cited by 10 publications

(10 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…According to previous studies, the most common mutation is Thr60Ala in the UK and US, Val30Met in Japanese non-endemic areas, and Asp38Ala in South Korea, indicating different genetic characteristics of ATTR in nonendemic areas of the world. [54][55][56][57] Additionally, another 20 kinds of TTR mutations have been found in our cohort, five of which have never been reported in mainland China before. It has to be acknowledged that our center is in Beijing, a northern city of China, which may lead to genotype bias, indicating the need for multicenter epidemiological investigations of ATTR in the future.…”

Section: Discussionsupporting

confidence: 51%

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Wang

et al. 2021

Ann Clin Transl Neurol

View full text Add to dashboard Cite

Objective This study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis (ATTR) in a large Chinese cohort, yet the clinical and genetic profiles of ATTR remain elusive in mainland China. Methods Fifty‐four patients with molecularly confirmed ATTR from 39 unrelated families were identified by sequencing the TTR gene. Sural nerve biopsies were performed in 40 of these cases. The clinical and electrophysiological data were retrospectively collected and analyzed. Results The male/female ratio was 42:12. The average age of patients at the onset of the disease was 47.8 ± 13.0 years. The late‐onset type occurred in 29 cases (53.7%). Twenty‐two probands (56.4%) had a family history with ATTR. The initial symptoms were limb paresthesia in 33 cases (61.1%), autonomic dysfunction in 15 cases (27.8%), and blurred vision in 6 cases (11.1%). A total of 22 different TTR mutations were identified, including Val30Met (25.6%) in 10 families in North China and Ala97Ser in 4 families (10.3%) in South China. Electrophysiological studies revealed general sensorimotor axonal polyneuropathy in 33/44 cases (75.0%), mixed neuropathy with axonal and demyelinating impairment features in 9/44 cases (20.5%) and isolated carpal tunnel syndrome in two cases. Sural nerve biopsies revealed positive Congo red staining in 16/40 cases (40.0%). Conclusion Chinese patients with ATTR exhibited heterogeneous TTR genotypes and clinical phenotypes. Val30Met remains the most common mutation type in mainland China.

show abstract

Section: Discussionsupporting

confidence: 51%

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Wang

et al. 2021

Ann Clin Transl Neurol

View full text Add to dashboard Cite

show abstract

“…4 . The most common were cardiac biopsy [ 6 , 10 , 24 – 26 , 28 , 31 – 39 , 41 , 43 , 44 , 46 , 47 , 49 – 54 ], DNA genotyping [ 6 , 10 , 25 , 27 – 30 , 33 , 37 , 40 – 45 , 47 , 48 , 51 – 53 , 55 – 58 ], and extracardiac biopsy, performed in 26 (68%), 24 (63%), and 19 (50%) studies, respectively. Biopsy was not performed in 6 (16%) studies [ 27 , 29 , 30 , 40 , 55 , 57 ], but DNA genotyping was conducted in all 6 of these studies and nuclear scintigraphy in 2 of the 6 studies.…”

Section: Resultsmentioning

confidence: 99%

“…The most common were cardiac biopsy [ 6 , 10 , 24 – 26 , 28 , 31 – 39 , 41 , 43 , 44 , 46 , 47 , 49 – 54 ], DNA genotyping [ 6 , 10 , 25 , 27 – 30 , 33 , 37 , 40 – 45 , 47 , 48 , 51 – 53 , 55 – 58 ], and extracardiac biopsy, performed in 26 (68%), 24 (63%), and 19 (50%) studies, respectively. Biopsy was not performed in 6 (16%) studies [ 27 , 29 , 30 , 40 , 55 , 57 ], but DNA genotyping was conducted in all 6 of these studies and nuclear scintigraphy in 2 of the 6 studies. Cardiac and extracardiac biopsies were conducted together in 14 (37%) [ 6 , 10 , 26 , 28 , 33 , 39 , 41 , 44 , 46 , 51 – 54 ] studies, and cardiac biopsy and DNA genotyping were conducted together in 13 (34%) studies [ 6 , 10 , 25 , 28 , 33 , 37 , 41 , 43 , 44 , 47 , 51 – 53 ].…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Transthyretin amyloid cardiomyopathy in women: frequency, characteristics, and diagnostic challenges

et al. 2020

View full text Add to dashboard Cite

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, life-threatening disease characterized by deposition of insoluble amyloid fibrils in the myocardium, resulting in cardiac structural and functional abnormalities and ultimately heart failure. Disease frequency is reportedly lower in women than men, but sex-related differences have not been well established. We conducted a systematic literature review (SLR), based on PRISMA-P guidelines and registered with PROSPERO, to assess whether the epidemiology and clinical presentation of ATTR-CM differ between women and men. MEDLINE, Embase, and Cochrane databases and selected conference proceedings were searched (August 16, 2019) to identify observational and clinical studies reporting sex-specific data for patients with wild-type or hereditary ATTR-CM. Of 193 publications satisfying final eligibility criteria, 69 studies were included in our pooled analysis. Among the 4669 patients with ATTR-CM analyzed, 791 (17%) were women, including 174 (9%), 366 (29%), and 251 (18%) in studies of wild-type, hereditary, and undefined ATTR-CM, respectively. Data available on disease characteristics were limited and very heterogeneous, but trends suggested some cardiac structural/functional differences, i.e., lower interventricular septal and posterior wall thickness and left ventricular (LV) end diastolic diameter, and higher LV ejection fractions, in women versus men across ATTR-CM subtypes. Because LV wall thickness > 12 mm is generally the suggested threshold for ATTR-CM diagnosis in both sexes, smaller cardiac anatomy in women with the disease may lead to underdiagnosis. Additional research and studies are needed to elucidate potential disparities between sexes in ATTR-CM frequency, clinical characteristics, and underlying biological mechanisms. This study was registered within the International Prospective Register of Systematic Reviews (PROSPERO) database of the University of York (CRD42019146995).

show abstract

“…In Korea, the number of diagnosed hereditary TTR amyloidosis cases are limited to a few that have been previously reported. 6 Of 18 Korean patients with hereditary TTR amyloidosis, a majority had both cardiac and neurologic symptoms (83.3%, 15/18), Asp38Ala genetic variant was the predominant TTR mutation identified (8/18), and the mean age of disease onset was 49.6 years (range: 23-64 years). 6 To date, our patient is the youngest diagnosed with TTR-FAP in Korea.…”

Section: Discussionmentioning

confidence: 99%

Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review

Lee

Hwang

et al. 2019

Neuropediatrics

Self Cite

View full text Add to dashboard Cite

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant disease caused by the deposition of amyloid fibrils composed of TTR proteins. Symptoms of this disease include progressive sensorimotor neuropathy, cardiomyopathy, and involvement of other organs. We described a pediatric case of extremely early onset TTR-FAP with a TTR Leu55Pro mutation. A 17-year-old boy began to suffer from lower limb weakness, gait disturbance, and decreased sensation from 14 years of age onward. He presented with hypertrophic cardiomyopathy, periorbital and scleral ecchymosis, anhidrosis, orthostatic intolerance, and gastrointestinal autonomic dysfunction including nausea, vomiting, and diarrhea alternating with constipation. The patient's older sister had developed similar gastrointestinal symptoms from 20 years of age onward and was diagnosed as having hypertrophic cardiomyopathy. The boy's biopsy results showed infiltrated amyloid deposition on subcutaneous fat tissue and endocardium. Genetic analysis of the TTR gene demonstrated that both the patient and his sister had a pathogenic mutation, c.224T > C (Leu55Pro). Both patients were prescribed tafamidis, a TTR stabilizing agent. Although a majority of TTR-FAPs occur during adulthood, it should be suspected, even in pediatric populations, when symmetric length dependent neuropathy occurs in conjunction with a family history of neuropathy, autonomic neuropathy, and/or cardiomyopathy.

show abstract

Characteristics of South Korean Patients with Hereditary Transthyretin Amyloidosis

Cited by 10 publications

References 23 publications

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Transthyretin amyloid cardiomyopathy in women: frequency, characteristics, and diagnostic challenges

Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review

Contact Info

Product

Resources

About