Hereditary Hemochromatosis.

OBJECTIVE: To describe the clinical and laboratory features of hereditary hemochromatosis associated liver disease in a tertiary care hospital.

STUDY DESIGN: Observational study.

PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, from January 2002 to October 2012.

METHODOLOGY: Charts of patients with Hereditary Hemochromatosis (HHC) were reviewed. Data collected and analyzed consisting of clinical presentations, liver function tests, serum ferritin, transferrin saturation, hepatic imaging and histology in patients with HHC.

RESULTS: 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.

CONCLUSION: Hemochromatosis is not a rare disease in Pakistan and should be looked in those subjects whose liver function tests are deranged.