Arthritis Treatment: What Is Hemochromatosis and What Kind of Arthritis Does It Cause?

Hemochromatosis, or as it is often referred to as hereditary hemochromatosis, is due to a mutation in a gene that controls the amount of iron absorbed from the intestine.

The gene mutated with hereditary hemochromatosis is called HFE. Each parent contributes the HFE gene. The HFE gene has two common mutations, C282Y and H63D.

If a patient inherits two mutated HFE genes, the likelihood is very high, they will get hemochromatosis.

If one abnormal gene is inherited, the likelihood is the patient won't develop hemochromatosis.

Still the amount of iron absorbed from the intestine may be a bit higher than normal and the mutated gene can be passed on to children.

Genetic testing can detect mutations in the HFE gene.

Normally, about 10 per cent of iron is absorbed from the gut. There is a balance the body establishes so that iron absorption is controlled by iron loss.

In people with hemochromatosis, the amount of iron absorbed can be 20-30 per cent making it impossible for the body to get rid of enough iron. Iron accumulates in various organs including the liver, heart, pancreas, and joints.

Risk factors for contracting hemochromatosis are: genetics, family history, Northern European extraction, and male gender. After menopause, women tend to have an increased incidence as well. It appears that menstruation may be protective premenopausal. Symptoms include fatigue, joint aches and pains, impotence, loss of menses, and abdominal pain.

Diagnosis can be established through screening blood tests such as serum transferrin saturation and serum ferritin.

Liver biopsy is definitive.

Genetic analysis can detect the HFE mutation.

Complications of hemochromatosis include cirrhosis of the liver, heart abnormalities such as rhythm abnormalities and congestive heart failure, as well as thyroid deficiency, diabetes and arthritis. Patients develop discoloration of the skin also.

Arthritis is present in 80 per cent of people with hemochromatosis.

The arthritis is characterized by involvement of the hands, wrists, shoulders, hips, and knees. People with this type of arthritis almost always have calcium pyrophosphate deposits in the affected joints. The arthritis is usually not symmetric. It can mimic osteoarthritis and rheumatoid arthritis.

The treatment for this type of arthritis is identical to treatment for other patients who have calcium pyrophosphate arthritis.

Treatment of hemochromatosis involves phlebotomy as well as avoidance of iron-containing foods, vitamin C which enhances iron absorption, alcohol, as well as raw seafood. The latter contains potentially harmful bacteria that can cause life-threatening complications in patients with hemochromatosis.