Hemochromatosis (Hereditary Hemochromatosis) | Iron Overload

Symptoms and complications of hemochromatosis

Not all patients with hemochromatosis show symptoms, but some of them may show severe symptoms and complications. Symptoms usually appear at middle age because the iron takes years to accumulate in your organs. In women, the disease usually manifests later at menopause, while in men, the complications of organ failure may be the 1st sigs.

Hemochromatosis show symptoms that are related to the organs where the iron builds up. Also, most of these symptoms are similar to those of many other conditions.

The initial presentation of hemochromatosis may include:

  • Fatigue (feeling tiredness) and generalized weakness
  • Unexplained weight loss
  • Abdominal (or stomach) pain
  • Joint pain, especially in the hands and knees
  • Iron fist: It is a pain in the joints (knuckles) of the index and middle fingers.

As the disease progresses, the iron accumulates your organs and leads to the following complications:

In liver:

The liver is the primary iron store in your body; thus, it is more susceptible to damage by iron overload. As the iron accumulates in your liver, it loses its functions, which may end in liver failure and cirrhosis (scarring).

This liver affection results in:

  • Jaundice (yellow skin and sclera) and enlarged liver
  • Ascites (fluid accumulation in the abdominal cavity)
  • Esophageal varices that may lead to life-threatening bleeding
  • Disturbed mental functions (Hepatic encephalopathy) because the liver can’t detoxify the blood that passes through it

Also, in hemochromatosis, you are at a higher risk of liver cancer.

In heart:

Iron accumulation in your heart muscles interferes with your heart’s ability to pump enough blood to meet your body’s needs (congestive heart failure). Also, excess iron may lead to abnormal (irregular) heart rate (arrhythmia) that may cause chest pain and palpitation.

Both conditions are life-threatening, but they are reversible with treatment.

In pancreas:

Pancreas also stores iron, and it is a vital organ for glucose metabolism. Iron accumulates in the pancreas, especially in its beta cells (secrete insulin), which leads to their failure and death. Because the pancreas can’t secrete insulin, diabetes occurs. Diabetes has many severe complications that may be fatal, such as blindness and kidney failure.

In skin:

Iron builds up in the skin and changes its color to bronze or gray. Thus, this disease had the name bronze diabetes.

In reproductive organs:

Iron accumulates in the gonads and destroys them, which leads to hypogonadism (insufficient sex hormones). It also leads to erectile dysfunction (impotence). It means that it is hard to get or maintain an erection. Both hypogonadism and erectile dysfunction lead to loss of libido (sex drive). It also leads to shrinkage of testicles.

In women, it may lead to absent menstrual cycles and early menopause.

In joints:

Iron accumulation leads to joint inflammation (arthritis), especially in the knuckles of the 2nd (index) and 3rd (middle) finger, knees, and shoulders.

Also, iron may build up in the endocrine glands, such as the adrenal, pituitary, and parathyroid glands, which leads to their dysfunction. Patients with hemochromatosis may also experience foggy memory and hair loss.

Written by Martin Davis