Clinical features

• Fatigue, lethargy —> Often the first symptom, along with arthralgia and impotence.

• Increased susceptibility to infections —> Especially infections by pathogens that are able to exploit host iron overload. This includes bacteria (e.g., Listeria, Pseudomonas), fungi (e.g., Candida, Histoplasma), and viruses (e.g., HBV, cytomegalovirus).

Asymptomatic: 75% of cases

• Abdominal pain

• Hepatomegaly

• Cirrhosis

• Increased risk of hepatocellular carcinoma (common cause of death)

• Cardiomyopathy

  • Cardiac siderosis

    • The process of accumulation of iron in cardiac tissue.

    • Can lead to chamber remodeling and subsequent dilated (reversible) or restrictive cardiomyopathy

    • Occurs in individuals with iron overload (e.g., due to hereditary hemochromatosis or repeated blood transfusions)

• Cardiac arrhythmias: paroxysmal atrial fibrillation (most common), sinus node dysfunction, complete AV block, atrial and ventricular tachyarrhythmias, and sudden cardiac death

• Congestive heart failure

• Pancreas: signs of diabetes mellitus (polydipsia, polyuria)

• Skin: hyperpigmentation, bronze skin

• Pituitary gland: hypogonadism, erectile dysfunction, testicular atrophy, loss of libido, amenorrhea [9]

• Joints: arthralgia (typically symmetrical arthropathy of the MCP joints II and III), chondrocalcinosis (accumulation of calcium pyrophosphate)