Broadly, hemochromatosis is a disease of iron overload. Oftentimes, the word hemochromatosis refers to hemochromatosis type I, which is an inherited condition of iron overload. Despite the cause, the excessive iron in the body deposits in the tissues, damaging them and leading to symptoms. It is important to consult a physician for the appropriate diagnosis and treatment of hemochromatosis and other medical conditions.
Mechanism
In secondary hemochromatosis blood levels of iron are usually high due to multiple blood transfusions. In primary, or hereditary hemochromatosis, iron levels rise due to dysfunctional iron-regulating proteins. The iron deposits in the joints, pancreas, thyroid, heart, blood vessels, skin, adrenal glands, reproductive organs and is particularly damaging to the liver. One of the functions of the liver is to process waste products. Ammonia is a waste product of protein metabolism, and the liver changes it into urea to be excreted by the kidneys into the urine. Without proper liver function, ammonia builds up and causes symptoms.
Symptoms
Symptoms depend on the degree of damage to the particular organ in hemochromatosis. The ammonia buildup from liver damage causes a number of noticeable problems. Fatigue, confusion, itching, tremors, unresponsiveness, concentration problems, insomnia, forgetfullness and neglect of personal hygiene from brain dysfunction are common symptoms.
Diagnosis
The diagnosis of hemochromatosis begins with a medical history. Clues to the diagnosis can include a family history of the disease or symptoms related to the organ dysfunction mentioned above. Studies of iron and iron-carrying proteins in the blood can also help establish the diagnosis. An MRI scan can establish how much iron is in the liver. Alternatively, a liver biopsy with tissue studies can also be used to sample the iron concentration in the liver. An MRI and biopsy can also help establish the severity of liver damage or scar tissue. Rising ammonia levels cause the symptoms listed, and blood tests can establish how high the levels are.
Treatment
The main treatment of hemochromatosis is to decrease the levels of iron in the blood through phlebotomy, or regular blood donation. Other considerations include avoiding iron in food and supplements, as well as vitamin C because it increases iron absorption. Alcoholic beverages and raw seafood should be avoided to curtail liver damage. High ammonia levels are treated if symptomatic with medicines such as rifaxamin, lactulose and the amino acid combination L-ornithine and L-aspartate, known as LOLA.
References
- "Robbins and Cotran Pathologic Basis of Disease"; Vinay Kumar, et al.; 8th Ed 2009
- "Harrison's Principles of Internal Medicine"; Anthony S Fauci, et al.; 17th Ed 2008
- "Current Medical Diagnosis and Treatment 2011"; Stephen McPhee, et al.; 50th Ed 2010
