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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Early stages of hereditary haemochromatosis (HH) are usually asymptomatic.

Symptomatic HH:

  • rarely presents in people younger than 40 years
  • in women seen after menopause, hysterectomy, or prolonged use of continuous oral contraceptives since blood loss during menstruation delays iron accumulation
  • average age at diagnosis is similar for men and women
    • women have less severe disease manifestations
  • initial symptoms are often vague and non specific e.g. – weakness, fatigue, lethargy, weight loss, arthropathy in other joints, non-specific abdominal problems, erectile dysfunction, and cardiac problems
    • in a cohort study, around 75% of patients had lethargy and weakness while other patients displayed somnolence, memory disturbances, generalised arthralgia, and reduced libido or impotence in men
  • typical presenting symptoms are usually seen in advanced disease and include:
    • diabetes, bronzing of the skin, hepatomegaly, and arthropathy, especially of the second and third metacarpophalangeal joints (1,2,3)

The main tissues which are clinically involved in haemochromatosis include:

  • liver
  • pancreatic islet cells
  • heart
  • pituitary
  • joints
  • skin

Notes:

  • variable clinical manifestation of hereditary haemochromatosis:
    • in Northern European populations, the prevalence of C282Y homozygosity is approximately 0.3-0.5%
    • although the majority of male C282Y homozygotes have biochemical changes indicating abnormal iron handling (raised serum ferritin and high transferrin saturation), less than 50% become clinically symptomatic and only a small proportion (probably no more than 10%) develop serious hepatic complications such as cirrhosis or hepatocellular carcinoma
      • it has been suggested than the prevalence of presentation with full-blown clinical manifestations of haemochromatosis may be less than 1%
      • reason why only a small proportion of individuals with a genetic predisposition to hepatic iron overload progress to advanced liver disease is uncertain; in some cases additional environmental cofactors such as alcohol or the metabolic syndrome may be important in unmasking the diseas
    • compound heterozygous state (C282Y/H63D) appears to be more frequent, but is less frequently associated with significant iron overload or liver disease (4)

Reference:


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