Introduction Ferroportin disease is a recently characterised cause of iron overload. Unlike hereditary haemochromatosis it involves genetic mutations of SLC40A1 gene, and has autosomal dominant transmission. We describe here 3 siblings with typical features.
Methods All cases had evaluation of liver function, serum iron markers and relevant molecular genotyping. One case (male) had liver MRI scan and two cases (female) had liver biopsy.
Results Median age was 41. None of them had other risk factors for liver disease. All had normal liver biochemistry, with elevated ferritin levels >1500 μg/l and transferrin saturations consistently below 40%. Liver MRI scan suggested iron deposition. Liver biopsies showed normal architecture with iron deposition mainly restricted to Kuppfer cells with no hepatocellular damage. Molecular genotyping identified SLC40A1 gene mutation in all cases. The male underwent four venesections which were poorly tolerated and have been suspended, while the females accepted an expectant approach.
Conclusion These cases illustrate features of classical ferroportin disease, with hyperferritinemia, normal transferrin saturation and Kuppfer cells iron loading with no evidence of hepatocyte injury. The natural history of this phenotype is unclear thus require long term follow-up. However, other mutations with a greater likelihood of causing liver injury have been described.
Competing interests None declared.
Reference 1. Mayr R, Janecke AR, Schranz M, et al. Ferroportindisease: A systematic meta-analysis of clinical and molecular findings. J Hepatol 2010;53:941–9.