Di Wu1, Min Shen1, Xiaofeng Zeng1. 1. Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Abstract
Objectives: FMF is the most frequent monogenic auto-inflammatory disease worldwide. There have been hardly any cases reported in the Chinese population. We aimed to describe the first cohort of adult FMF patients in China. Methods: We evaluated all the adult patients suffering from FMF referred to our centre from April 2015 through March 2017. Patients were diagnosed clinically according to the Tel Hashomer criteria. Whole exome sequencing was performed in each patient. Results: A total of 11 adult patients were diagnosed as FMF in our centre. The mean age of onset was 29.4 years (s.d. 18.2). All patients were of Chinese Han ethnicity with no positive family history. All patients had intermittent febrile episodes. During attacks, seven patients had generalized abdominal pain, three experienced chest pain, four developed arthritis and none reported erysipelas-like skin changes. No patient had evidence of AA amyloidosis. Every patient carried at least one variant in the MEFV gene. All patients had good response to colchicine. Conclusion: Our study is the first to suggest the presence of FMF in the Chinese adult population. The late onset, often atypical and mild clinical manifestations and absence of AA amyloidosis in our patients might be related to low-penetrance and heterozygous MEFV variants. Our results await to be confirmed on larger Chinese populations.
Objectives:FMF is the most frequent monogenic auto-inflammatory disease worldwide. There have been hardly any cases reported in the Chinese population. We aimed to describe the first cohort of adult FMFpatients in China. Methods: We evaluated all the adult patients suffering from FMF referred to our centre from April 2015 through March 2017. Patients were diagnosed clinically according to the Tel Hashomer criteria. Whole exome sequencing was performed in each patient. Results: A total of 11 adult patients were diagnosed as FMF in our centre. The mean age of onset was 29.4 years (s.d. 18.2). All patients were of Chinese Han ethnicity with no positive family history. All patients had intermittent febrile episodes. During attacks, seven patients had generalized abdominal pain, three experienced chest pain, four developed arthritis and none reported erysipelas-like skin changes. No patient had evidence of AA amyloidosis. Every patient carried at least one variant in the MEFV gene. All patients had good response to colchicine. Conclusion: Our study is the first to suggest the presence of FMF in the Chinese adult population. The late onset, often atypical and mild clinical manifestations and absence of AA amyloidosis in our patients might be related to low-penetrance and heterozygous MEFV variants. Our results await to be confirmed on larger Chinese populations.
Authors: Maria Alessandra Saltarelli; Rossella Ferrante; Francesca Di Marcello; Daniela David; Silvia Valentinuzzi; Lucrezia Pilenzi; Luca Federici; Claudia Rossi; Liborio Stuppia; Stefano Tumini Journal: Int J Environ Res Public Health Date: 2022-06-04 Impact factor: 4.614
Authors: Hana A Mansour; Pinar Ç Ozdal; Sibel Kadayifcilar; Ilknur Tugal-Tutkun; Hilal Eser-Ozturk; F Nilüfer Yalçındağ; Harry Petrushkin; Errol W Chan; Soukaina Belfaiza; Remzi Karadag; Sirel Gür Güngör; Maurizio Battaglia Parodi; Ahmad M Mansour Journal: Eye (Lond) Date: 2021-11-01 Impact factor: 4.456