Hereditary hemochromatosis

ABSTRACT

To describe the clinical and laboratory features of hereditary hemochromatosis associated liver disease in a tertiary care hospital. Observational study. The Aga Khan University Hospital, Karachi, from January 2002 to October 2012. Charts of patients with Hereditary Hemochromatosis [HHC] were reviewed. Data collected and analyzed consisting of clinical presentations, liver function tests, serum ferritin, transferring saturation, hepatic imaging and histology in patients with HHC. A total of 22 patients were identified as having hemochromatosis. All subjects were men with a mean age of 53 +/- 9.2 years at the time of diagnosis. The most common presentation was skin pigmentation seen in 17 [77%], followed by loss of libido/ impotence in 11 [50%] and then arthralgias in 10 [45%] and weakness in 6 [27%]. Eleven [50%] subjects had diabetes mellitus and one subject had concomitant cardiac involvement. Patients with diabetes were diagnosed earlier as compared to those without it. Eighteen [81%] subjects had cirrhosis at the time of diagnosis. Serum iron was 164 +/- 53 ug/dl, ferritin 3391 +/- 1960 ug/L, TIBC 202 +/- 61 ug/dl and transferrin saturation 76.8 +/- 14%. Liver biopsy was done in 10 [45%] and using Pearls' stain histopathological features were consistent with hemochromatosis and none had carcinoma. Only 3 [14%] patients had regular phlebotomy. Hemochromatosis is not a rare disease in Pakistan and should be looked in those subjects whose liver function tests are deranged