Hereditary Hemochromatosis


Step 1: View clinicals

A 56-year-old Caucasian man presents with intermittent nausea, abdominal distension, erectile dysfunction, and arthralgia of the small joints of both hands for 6 months. He has been on treatment for diabetes mellitus for 2 years now. Despite good dietary compliance, he displayed a poor response to oral hypoglycemics, but achieved satisfactory control with insulin therapy. His family history is significant for diabetes in his mother, at the age of 50. He does not smoke or drink. A CBC is within normal parameters, with a Hb of 13.5 mg/dl. A blood film is also normal.

Step 2: Order all relevant investigations

Liver Profile + Ultrasound Abdomen

ALT: 86 U/L (<35) AST: 64 U/L (<35) ALP: 96 U/L (40-125) Total Serum Bilirubin: 3.34 mg/dL (<1) The ultrasound scan reveals mild hepatomegaly, with a normal echotexture. Mild ascites is also present. No other abnormalities are noted.

Iron Studies

Ferritin: 1504 ng/mL (20-300 in adult males) Serum Iron: 163 μg/dL (75-180 in adult males) Total Iron Binding Capacity: 170 μg/dL (300-400 in adult males) Transferrin Saturation: 92% (15- 50)

Hepatitis Viral Panel

HBsAg: Negative Anti-HBs: Negative HBeAg: Negative Anti-HBe: Negative Anti-HBc: Negative HBV DNA: Negative HCV RNA: Negative Anti HDV total antibodies: Negative

HFE Mutation Analysis

Homozygous for the C282Y mutation.

Step 3: Select appropriate management

Therapeutic Phlebotomy
Iron Chelation Therapy
Vitamin C
Liver Transplantation

Score: ★★☆