This page is also available as a printable PDF: Symptoms

Early Symptoms Often Go Unnoticed

In spite of being the most common genetic disorder among persons of Northern European descent, hemochromatosis remains relatively unknown. Until recently, physicians were taught that HHC was extremely rare, so symptoms were attributed to other causes. Many early symptoms go unnoticed so individuals with hemochromatosis go undiagnosed until irreversible damage has occurred. Even post mortem, hemochromatosis is often overlooked as a possible cause of death. That is why hereditary hemochromatosis has been called “the silent killer”.

Symptoms of HHC do not necessarily appear in a particular order, and importantly, not all hemochromatosis sufferers will have every symptom. The following symptoms have been associated with hemochromatosis, and any combination of two or more should prompt further investigation:

  • chronic fatigue
  • joint pain
  • arthritis, especially of the knuckles of the first and second finger, and thumb
  • a change in skin colour, either bronzing like a tan that never fades or a slate gray
  • abdominal pain and distention
  • menstrual irregularities and premature menopause
  • loss of body hair
  • loss of libido or sexual drive
  • impotence
  • sudden weight loss
  • thyroid problems
  • mood swings and other personality changes such as severe depression or anger
  • elevated liver enzyme levels, such as AST, ALT, GGT or alk phos, on routine blood work
  • elevated triglyceride levels
  • increased glucose levels (blood sugars)
  • diabetes (adult onset or Type II)
  • enlarged liver, cirrhosis or other liver conditions
  • irregular heartbeat (arrhythmia)
  • congestive heart failure or cardiomyopathy, a disease of the heart muscle

Preventing Life Threatening Complications

Without any kind of intervention, damage to organs from too much iron can eventually result in life threatening significant diseases, such as:

  • cirrhosis, with all its complications such as liver cancer and internal hemorrhage
  • congestive heart failure
  • diabetes

Diagnosing the disorder before symptoms occur, while still in the early stages before irreversible damage is done, is extremely important. Many complications can be treated or prevented, but early diagnosis and therapy is the key.