What is hemochromatosis?
Hemochromatosis is an iron disorder that largely affects the liver, however if left untreated can damage joints and other organs. Iron is a good thing, however too much of it is not. People with hemochromatosis are genetically predisposed to absorb too much iron. Normally people absorb 8-10% of the iron in foods they eat, but people with hemochromatosis they absorb four times that amount.
Some patients may present with muscle and joint aches, brown skin pigmentation, enlarged liver, or edema; however many people may not present until later and they have developed one of the complications of hemochromatosis, which may be cardiomyopathy, cirrhosis, arthritis, diabetes, hypothyroidism or hypogonadism.
More often hemochromatosis is asymptomatic; a clinician might first suspect hemochromatosis if the ferritin, or iron stores, is high. However because ferritin is an acute phase reactant and it is often high in any kind of liver disease and inflammation, secondary testing should be done to exclude the diagnosis. These tests may include measuring the level of circulating iron or the ability of the blood to carry iron. Once there is a high suspicion from these tests, genetic screening may suggest the mutated gene, and a referral can be made to a gastroenterologist or hematologist. The specialist will determine whether the liver has become fibrotic, or stiffened, with excess iron. This can be determined by means of Fibroscan technology or liver biopsy. Management usually includes routine phlebotomies or reduced dietary iron intake.
It is important to let your primary care provider know if hemochromatosis is part of your family history because it may be pertinent for you!
Lindsay Myles MN NP-PHC
Liver Care Canada
Barrie & Community Family Health Team
Liver Care Canada: http://www.livercarecanada.com/
Canadian Liver Foundation: www.liver.ca