Pericardial effusion in the course of Fabry disease cardiomyopathy: a case report. Issue 10 (7th October 2021)

• Record Type: Journal Article
• Authors: Tsuruda, Toshihiro; Higashi, Yoshimasa; Gi, Toshihiro; Nakao, Shoichiro
• Editors: Shemesh, Elad; Melato, Giacomo Tini; Cecere, Annagrazia; Parollo, Matteo; Jakstaite, Aiste Monika
• Is Part Of: European heart journal. Volume 5:Issue 10(2021)
• Publication Date: 2021-10-07
• Subjects: Inflammation -- Hypertrophy -- Cytokine -- Fabry disease -- Case report; Cardiology -- Periodicals; Cardiology -- Case studies -- Periodicals; Heart -- Diseases -- Periodicals; Heart -- Diseases -- Case studies -- Periodicals; 616.12
• DOI: 10.1093/ehjcr/ytab407
• Languages: English
• ISSNs: 2514-2119

Abstract

Abstract: Background: Fabry disease (FD) is an X-chromosome-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. Case summary: A 51-year-old Japanese woman with a previous diagnosis of FD presented with pericardial effusion. The exudative pericardial fluid contained globotriaosylsphingosine. Left ventricular hypertrophy progressed despite regular administration of agalsidase alfa every 2 weeks over a 7-year period, with increases in plasma levels of globotriaosylsphingosine and interleukin (IL)-18. In addition, the IL-6 level in the pericardial fluid was markedly higher than that in plasma. Discussion: This case suggests that elevated IL-6 and IL-18 levels in pericardial fluid and plasma indicate the severity of FD cardiomyopathy.