Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Journal of Clinical Medicine Année : 2022

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease

Foudil Lamari

Résumé

Fabry disease is an X-linked lysosomal disease in which defects in the alpha-galactosidase A enzyme activity lead to the ubiquitous accumulation of glycosphingolipids. Whereas the classic disease is characterized by neuropathic pain, progressive renal failure, white matter lesions, cerebral stroke, and hypertrophic cardiomyopathy (HCM), the non-classic phenotype, also known as cardiac variant, is almost exclusively characterized by HCM. Circulating sphingosine-1-phosphate (S1P) has controversially been associated with the Fabry cardiomyopathy. We measured serum S1P levels in 41 patients of the FFABRY cohort. S1P levels were higher in patients with a non-classic phenotype compared to those with a classic phenotype (200.3 [189.6–227.9] vs. 169.4 ng/mL [121.1–203.3], p = 0.02). In a multivariate logistic regression model, elevated S1P concentration remained statistically associated with the non-classic phenotype (OR = 1.03; p < 0.02), and elevated lysoGb3 concentration with the classic phenotype (OR = 0.95; p < 0.03). S1P levels were correlated with interventricular septum thickness (r = 0.46; p = 0.02). In a logistic regression model including S1P serum levels, phenotype, and age, age remained the only variable significantly associated with the risk of HCM (OR = 1.25; p = 0.001). S1P alone was not associated with cardiac hypertrophy but with the cardiac variant. The significantly higher S1P levels in patients with the cardiac variant compared to those with classic Fabry suggest the involvement of distinct pathophysiological pathways in the two phenotypes. S1P dosage could allow the personalization of patient management.
Fichier principal
Vignette du fichier
jcm-11-01233-v2.pdf (710.72 Ko) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte

Dates et versions

hal-03830929 , version 1 (15-11-2022)

Identifiants

Citer

Wladimir Mauhin, Abdellah Tebani, Damien Amelin, Lenaig Abily-Donval, Foudil Lamari, et al.. Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease. Journal of Clinical Medicine, 2022, 11 (5), pp.1233. ⟨10.3390/jcm11051233⟩. ⟨hal-03830929⟩
104 Consultations
45 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More