Abstract
Sex differences among patients with complement-gene-variant-mediated thrombotic microangiopathy (cTMA) are not well established. We examined demographic and clinical data from female and male patients with a history of cTMA enrolled in the Vienna thrombotic microangiopathy (TMA) cohort. Follow-up was three years after first presentation with cTMA. In this single-center study, we identified 51 patients with a first manifestation of cTMA between 1981 and 2019; 63% were female (p = 0.09). The median age at diagnosis did not differ between females and males. There was also no disparity between the sexes with regard to renal function or the need for renal replacement therapy at presentation. Furthermore, we observed similar use of plasma or eculizumab therapy and a comparable evolution of renal function of female and male patients. More females showed risk haplotypes of complement factor H (CFH) and CD46 (97% vs. 68%, p = 0.01), but there was no difference in the prevalence of rare pathogenic variants in complement-associated genes with regard to sex. In conclusion, the majority of cTMA patients enrolled in the Vienna TMA cohort were female. Clinical presentation and renal function did not differ between the sexes, but females more frequently presented with cTMA risk haplotypes.
Highlights
IntroductionComplement-gene-variant-mediated thrombotic microangiopathy (cTMA or atypical hemolytic uremic syndrome, aHUS) is a rare hereditary and devastating disease, resulting in kidney failure and premature death [1,2,3]
Complement-gene-variant-mediated thrombotic microangiopathy is a rare hereditary and devastating disease, resulting in kidney failure and premature death [1,2,3]
The incidence of complement-gene-variant-mediated thrombotic microangiopathy (cTMA) is estimated to be less than one case per million [2] and could be higher in females as compared to males, because pregnancy is an important trigger for the development of cTMA [7,8,9,10]
Summary
Complement-gene-variant-mediated thrombotic microangiopathy (cTMA or atypical hemolytic uremic syndrome, aHUS) is a rare hereditary and devastating disease, resulting in kidney failure and premature death [1,2,3]. It is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage due to an alternative complement pathway overactivation within the vascular endothelium [4]. Sex differences in the presentation and outcome of cTMA are not well defined In this context, a recent analysis from the International aHUS Registry found that only 9% of females had a pregnancy before disease manifestation [11]. Since multicentric registry data are frequently incomplete, analysis of well-defined single-center cohorts may be more reliable in this regard
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