Hemochromatosis

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Original Editors - Jill Heil & Jillian Redlinger from Bellarmine University's Pathophysiology of Complex Patient Problems project.

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Definition/Description

Hemochromatosis, also known as bronze diabetes or iron storage disease, is an autosomal recessive hereditary disorder characterized by excessive iron absorption by the small intestines. Individuals with hemochromatosis lack an effective way to remove excess iron, and the iron begins to accumulate with subsequent development of fibrosis in the liver, pancreas, skin, heart, and other organs. Excess iron accumulation in the body promotes oxidation and causes tissue injury, fatigue, arthralgia or arthritis, and skin changes. Complications can include hepatomegaly, diabetes, impotence (males), pulmonary involvement, and cardiac myopathy.

Prevalence

• In one of every 200-300 people there is a genetic abnormality found, but there can also be an excessive amount of iron intake that can cause Hemochromatosis. (symptoms and remedies)
• Occurs 5-10 times more often in men than women; this is due to women losing blood through menstuation and pregnanacy.

• Symptoms occur in men >50 years and are rarely symptomatic before 30 years of age.

• Women experience symptoms around age 60.

• It is the most common autosomal recessive disorder in people of Northern European descent 

• If an individual has hemochromatosis, their brothers and sisters have a 1 in 4 chance (25%) of having two HFE gene mutations and their children have about a 1 in 20 chance (5%) of having two HFE gene mutations.

Characteristics/Clinical Presentation

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Associated Co-morbidities

• Diabetes mellitus and Glucose intolerance frequently occurs with cirrhosis including cirrhosis associated with hemochromatosis (http://www.medscape.com/viewarticle/421519_3). Diabetes can occur from an excess amount of iron in the pancreas (symptoms and remedies)

• Cirrhosis of the liver, liver cancer, and liver failure may take place from excess iron in the liver.(symptoms and remedies)

1. Hepatomagaly is one of the most common physical signs in patients with this disease.
2.  In a young asymptomatic homozygote, hepatomagaly may not be present. (http://www.medscape.com/viewarticle/421519_3)

• Cardiac Disease- If hemochromatosis is left untreated then it can lead to congestive heart failure and impotence. (symptoms and remedies). CHF is a relatively uncommon manifestation of C282Y hemochromatosis, but it is often the complaint in juvenile hemochromatosis that presents (http://www.medscape.com/viewarticle/421519_3).

• Pigmentation- A darker skin pigmentation is a feature which occurs later in hemochromatosis which does improve with iron depletion therapy. “Bronze diabetes” is the clinical syndrome and it is a very rare presentation for hemochromatosis (http://www.medscape.com/viewarticle/421519_3).

• Endocrine Problems- in the late stages of hemochromatosis, impotence is a common difficulty. The impotence is often related to testosterone atrophy. Parental testosterone therapy may be a helpful solution which may also benefit the osteoporosis that occurs as disease advances. (http://www.medscape.com/viewarticle/421519_3)

• Thyroid and pituitary dysfunction have also been associated with hemochromatosis. (http://www.medscape.com/viewarticle/421519_3)

Medications

Chelation Therapy is recommended for those patients unable to receive phlebotomy such as those with anemia or in patients where the procedure is poorly tolerated. These drugs inhibit the iron absorption and include Deferasirox, Deferoxamine, and Deferiprone.

• Deferasirox is an oral chelation agent, administered at 10-30 mg/kg. Adverse effects can include elevation of the creatinine level, skin exanthem, diarrhea, and visual and auditory disturbances.
• Deferoxamine is administered intravenously or subcutaneously at doses ranging from 25 to 40 mg/kg. Intravenous infusion is usually 8-10 hours in duration and is repeated 5 nights per week. Similar effects can be obtained with subcutaneous bolus injections administered twice daily. The main adverse effects are inflammatory reactions at the sites of injection, visual and auditory disturbances, bone growth disturbances, and allergic reactions, including anaphylaxis.
• Deferiprone is given orally in 3 divided doses of 75 mg/kg/d. Agranulocytosis, neutropenia, arthralgia, gastrointestinal reactions, and elevation of liver enzyme levels are the main adverse effects. Cardiac iron overload is better reduced by deferiprone than deferoxamine.

Diagnostic Tests/Lab Tests/Lab Values

• It is recommended by the American Association for the Study of Liver Diseases (AASLD) that high risk groups should be screened for hemochromatosis; a high risk individual may have a history suggestive of organ involvement, a familial history or hereditary hemochromatosis, and an individual with biochemical or radiologic abnormalities suggesting the possibility of iron overload. The Center for Disease Control and Prevention (CDC) suggests an individual be screened for hemochromatosis when their history suggests iron overload, they have a family history, or are symptomatic.

• A blood test testing the amount of iron in the blood can suggest a diagnosis and the need for further treatment (systems and remedies)

o The blood test should be done on individuals with signs and symptoms of iron overload and on first-degree relatives of patients with hereditary hemochromatosis older than 20 years.

o It should be done after an overnight fast and the measurement of transferring saturation will tell if there is an iron overload.

o Measuring serum ferritin at the same time will increase the predictive accuracy for diagnosis of iron overload.

• The most definitive test is a liver biopsy (systems and remedies)

• Organ abnormalities may be revealed from a CT (computerized topography) scan or from an MRI (magnetic resonance imaging), which may help determine the severity of the disorder. (symptoms and remedies)

Etiology/Causes

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Systemic Involvement

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Medical Management (current best evidence)

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Physical Therapy Management (current best evidence)

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Alternative/Holistic Management (current best evidence)

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Differential Diagnosis

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Case Reports/ Case Studies

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Resources

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Recent Related Research (from Pubmed)

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References

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