Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE-H63D Mutation.

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic condition characterized by persistent hyperferritinemia (usually ferritin >1,000 ng/mL) without tissue iron overload, with or without early-onset slow-progressing bilateral nuclear cataract. It was first identified as a new genetic disorder in 1995, and since then genetic sequencing studies have been carried out to identify associated mutations in affected families. New mutations around the world are still being reported in the iron-responsive element (IRE) of the L-ferritin gene (FTL) to this day. Many clinicians remain unaware of this rare condition. The co-occurrence of FTL mutations and hereditary hemochromatosis (HH) mutations, especially H63D, on the HFE gene has been reported in the literature, which often leads to a diagnosis of HH, missed diagnosis of HHCS, incorrect treatment with phlebotomies and the occurrence of associated iatrogenic iron deficiency anemia. We herein report the case of a 40-year-old woman with spontaneous facial freckling, bilateral cataracts, homozygosity for HFE H63D mutation, iron deficiency anemia, and hyperferritinemia, who has been treated with phlebotomy and iron chelation therapy to no avail. Eleven years after being diagnosed and treated for HH, a reevaluation of her clinical presentation, laboratory results, medical imaging, and family history led to the recognition that her case is explained not by HH, but by an alternative diagnosis, HHCS. Our main objective in this report is to increase clinical awareness about HHCS, an often-unknown differential diagnosis of hyperferritinemia without iron overload, and to prevent adverse medical interventions in HHCS patients.

Changes in the etiology of chronic liver disease by referral to a FibroScan center: Increasing prevalence of the nonalcoholic fatty liver disease.

Background and Aim: Chronic liver disease (CLD) is a leading cause of morbidity and mortality worldwide with a wide etiological spectrum. FibroScan® is used for follow-up of fibrosis and steatosis. This single-center study aims to review the distribution of indications by referral to FibroScan®. Materials and Methods: Demographic characteristics, CLD etiologies, and FibroScan® parameters of the patients who were referred to our tertiary care center between 2013 and 2021 were retrospectively evaluated. Results: Out of 9345 patients, 4946 (52.93%) were males, and the median age was 48 [18-88] years. Nonalcoholic fatty liver disease (NAFLD) was the most common indication (N=4768, 51.02%), followed by hepatitis B (N=3194, 34.18%) and hepatitis C (N=707, 7.57%). Adjusting for age, sex, and CLD etiology, the results revealed that patients with older age (Odds ratio (OR)=2.908; confidence interval (CI)=2.597-3.256; p<0.001) and patients with hepatitis C (OR=2.582; CI=2.168-3.075; p<0.001), alcoholic liver disease (OR=2.019; CI=1.524-2.674, p<0.001), and autoimmune hepatitis (OR=2.138; CI=1.360-3.660, p<0.001) had increased odds of advanced liver fibrosis compared to NAFLD. Conclusion: NAFLD was the most common indication for referral to FibroScan®.