Objective IgA vasculitis (IgAV) and nephropathy (IgAN) share common immunological mechanisms. Liver cirrhosis is well-known to be associated with IgAN. Here, we aimed to describe the presentation and outcome of IgAV patients with underlying cirrhosis. Methods We conducted a French nationwide retrospective study of adult patients presenting with both IgAV and cirrhosis. Baseline characteristics were compared to those of the 260 patients included in the French nationwide IgAV registry (IGAVAS). Results Twenty patients were included, and seven (35%) were female. The mean ±SD age was 62.7 ±11 years. At baseline, compared with IGAVAS’ patients, patients with underlying cirrhosis were older (62.7 ±11 vs. 50.1 ± 18; p<0.01) and displayed more constitutional symptoms (weight loss 25 vs. 8%; p= 0.03). Patients with underlying cirrhosis were also more likely to exhibit elevated serum IgA levels (5.6 vs. 3.6 g/L; p=0.02). Cirrhosis and IgAV were diagnosed simultaneously in 12 patients (60%). Cirrhosis was mainly related to alcohol intake (n=15, 75%), followed by non-alcoholic steato-hepatitis (n=2), chronic viral hepatitis (n=1), haemochromatosis (n=1) and autoimmune hepatitis (n=1). During follow-up with a median of 17 months [IQR 12-84]), 10/13 (77%) exhibited IgAV remission at month 3. One patient presented a minor relapse. Six patients died, but no death was related to IgAV. Conclusion We reported the first case series of IgAV patients with underlining cirrhosis, which was mainly alcohol-related. The liver disease did not seem to impact baseline vasculitis’ characteristic. Physicians may investigate the existence of liver cirrhosis at IgAV diagnosis, especially in the context of alcohol abuse.

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Background: Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA gene coding for alpha-galactosidase, and the question of the pathogenicity of rare variants needs to be addressed, especially in patients with mild phenotypes. Case presentation: The patient, a 37-year-old female, presented with a persistent proteinuria after an otherwise uncomplicated first pregnancy. Renal biopsy showed both mild mesangial IgA deposits, and a striking vacuolization of podocytes and tubular cells consistent with Fabry disease. On electron microscopy, discrete but characteristic pseudo-myelinic lamellar inclusions were observed in the podocytes' lysosomes. A more detailed physical examination revealed an angiokeratoma, and medical history ancient acroparesthesia. There was no cardiac or cerebral involvement of Fabry disease on magnetic resonance imaging. While blood enzymatic activity of alpha-ga lactosidase was normal in this patient, lysoGb3 was elevated (3 N), and a rare heterozygous variant called c.610 T > C was documented in GLA gene. The patient was treated with an ACE inhibitor, with a rapid decrease in proteinuria. After a 5-year follow-up, her renal function has remained normal, with mild proteinuria, and normal cardiac echography. Conclusions: We report and phenotypically describe the first case of a Fabry disease female patient carrying the GLA c.610 T > C variant associated with a renal-predominant clinical presentation.