Heart failure in a woman with SLE, anti-phospholipid syndrome and Fabry's disease

Abstract

We describe a female patient with systemic lupus erythematosus (SLE) also diagnosed with Fabry's disease and anti-phospholipid antibody syndrome (APS). SLE and Fabry's disease are both systemic diseases with variable clinical presentations. Recent studies have shown a relatively high incidence of late onset Fabry's disease in female heterozygous individuals, suggesting that this condition could be under-diagnosed. We discuss a possible association between SLE and Fabry's disease and consider the role of lipid abnormalities in the pathogenesis of SLE.

Keywords: Fabry’s disease; Gb3; SLE.

Figure 1

Heart biopsy from the systemic lupus erythematosus (SLE) patient showing pathology consistent with Fabry’s disease. (a) Haematoxylin and eosin-stained light micrograph section showing sarcoplasmic vacuolation and myofibrillary loss of myocytes. Magnification × 200 and (b) Electron micrograph showing electron-dense glycosphingolipid in the form of myelin figures in the myocyte sarcoplasm.

Figure 2

Reduced serum expression of glycosphingolipid globotriaosylceramide (Gb3) following enzyme-replacement therapy (ERT). Glycosphingolipids (GSLs) were isolated from serum samples taken before and after commencement of ERT and analysed by high-performance liquid chromatography (HPLC). Results were compared to specific GSL standards and the ratio of Gb3 to GM3 (a GSL whose levels are not affected by AGL deficiency) was calculated. (a) HPLC plots from before ERT compared to the GSL standards and (b) plot of the ratio between of Gb3 and GM3 expression in the serum before and after ERT.

Figure 3

Interventricular septum thickness is reduced after enzyme-replacement therapy (ERT). Plot of septum thickness levels before and after commencement of ERT.