Hemochromatosis

Gastroenterology

Overview

Definition

Iron overload disorder.

Epidemiology

Varies globally depending on genetics, environment, or exposure.

Etiology & Risk Factors

  • Autosomal recessive mutation in HFE gene.

Clinical Symptoms

  • Bronze diabetes (hyperpigmentation
  • diabetes)
  • hepatomegaly
  • arthropathy (2nd/3rd MCP joints).

Clinical Approach

Diagnosis

  • High transferrin saturation
  • High ferritin
  • HFE gene test.

Management

  • Therapeutic phlebotomy.

Complications

  • Hepatocellular carcinoma
  • Restrictive cardiomyopathy.