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Genetic testing for the C282Y mutation can lead to the diagnosis of hereditary hemochromatosis (HH) without the need for invasive liver biopsies. However, patients with HH and serum ferritin levels >1000 µg/L must still undergo biopsy procedures to detect the presence of cirrhosis, which is the most important determinant of survival in HH patients. Now, researchers have investigated the usefulness of serum ferritin concentration, platelet counts, or aspartate aminotransferase levels in combination with serum markers of fibrosis, hyaluronic acid levels, or collagen type IV (CLIV) levels as noninvasive detectors of cirrhosis in patients with HH.
This retrospective study included 56 previously untreated HH patients (mean age, 42; 80% male) who …