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Hereditary Hemochromatosis.

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Hereditary hemochromatosis (HHC) is not rare in Pakistan, often presenting with liver disease, skin pigmentation, and diabetes. Early diagnosis is crucial, especially with deranged liver function tests.

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Area of Science:

  • Hepatology
  • Endocrinology
  • Genetics

Background:

  • Hereditary hemochromatosis (HHC) is a genetic disorder characterized by excessive iron absorption and storage.
  • Liver disease is a common manifestation of untreated HHC, potentially leading to cirrhosis and hepatocellular carcinoma.
  • Understanding the clinical and laboratory features of HHC-associated liver disease is essential for timely diagnosis and management.

Purpose of the Study:

  • To describe the clinical and laboratory features of hereditary hemochromatosis associated liver disease.
  • To highlight the prevalence and presentation of HHC in a Pakistani tertiary care setting.

Main Methods:

  • An observational study was conducted at Aga Khan University Hospital, Karachi, from January 2002 to October 2012.
  • Patient charts with a diagnosis of Hereditary Hemochromatosis (HHC) were reviewed.
  • Data included clinical presentations, liver function tests, serum ferritin, transferrin saturation, hepatic imaging, and histology.

Main Results:

  • Twenty-two male patients with HHC were identified, with a mean age of 53 years at diagnosis.
  • Common presentations included skin pigmentation (77%), loss of libido/impotence (50%), arthralgias (45%), and weakness (27%).
  • HHC-associated liver disease frequently presented with cirrhosis (81%), diabetes mellitus (50%), and elevated serum ferritin levels (3391 ±1960 ug/L).

Conclusions:

  • Hereditary hemochromatosis is not a rare condition in Pakistan.
  • HHC should be suspected in patients with unexplained deranged liver function tests.
  • Early detection and management, including regular phlebotomy, are vital to prevent severe liver complications.