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Hemochromatosis

Practice Essentials

Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity.
It is the most common autosomal recessive genetic disorder
and the most common cause of severe iron overload.

Signs and symptoms

Patients with hereditary hemochromatosis may be asymptomatic (75%) or may present with general and organ-related signs and symptoms. Early symptoms include severe fatigue (74%), impotence (45%), and arthralgia (44%). The most common signs at the time of presentation are hepatomegaly (13%), skin pigmentation, and arthritis.

See Clinical Presentation for more detail.

Diagnosis

Clinical manifestations of hemochromatosis include the following:

Liver disease (hepatomegaly, 13%; cirrhosis, 13%, usually late in the disease)

Skin bronzing or hyperpigmentation (70%)

Diabetes mellitus (48%)

Arthropathy

Amenorrhea, impotence, hypogonadism

Cardiomyopathy

Osteopenia and osteoporosis

Hair loss

Koilonychia (spoon nails)

Lab tests

The diagnosis of hemochromatosis is based on clinical features of the disease. Most patients are asymptomatic and are diagnosed when elevated serum iron levels are noted on a routine chemistry screening panel or when screening is performed because a relative is diagnosed with hemochromatosis.

Laboratory studies used in evaluating suspected hemochromatosis include the following:

Genetic testing: Examination of HFE mutations (C282Y, H63D) is pivotal for diagnosis of hemochromatosis

Transferrin saturation levels

Serum ferritin studies

Hepatic iron concentration

Supraventricular arrhythmias are often revealed on ECGs.

Imaging studies

Chest radiography and echocardiography may be helpful in the evaluation of patients with hemochromatosis and cardiac disease.

CT scanning is neither sensitive nor specific for the detection of mild hepatic iron overload. MRI may be more sensitive than CT scanning, but this modality has not been validated as a diagnostic test to help confirm hemochromatosis. Hepatic iron quantification with MRI might be helpful.

Procedures

The following are procedures that may be used to assess patients with hemochromatosis:

Diagnostic endoscopy

Skin biopsy

Liver biopsy, with biochemical determination of hepatic iron concentration and calculation of the hepatic iron index and histologic evaluation with iron staining (Perls Prussian blue)

Indications for liver biopsy

The use of liver biopsy in hereditary hemochromatosis can be restricted to those patients with a high probability of severe fibrosis or cirrhosis.

The American Association for the Study of Liver Diseases (AASLD) guidelines include the following indications for liver biopsy
:

All homozygotes with clinical evidence of liver disease

All homozygotes with serum ferritin greater than 1,000 ng/ml

All homozygotes older than 40 years with other risk factors for liver disease

Compound or C282Y heterozygotes with elevated transferrin saturation, particularly those who have had abnormal liver enzyme levels or clinical evidence of liver disease

See Workup for more detail.

Management

Clinical suspicion and early diagnosis are essential in hemochromatosis. The goal of therapy in patients with iron overload disorders is to remove the iron before it can produce irreversible parenchymal damage.

Phlebotomy

Once diagnosed, hemochromatosis is treated by phlebotomy to rid the body of excess iron and to maintain normal iron stores. Phlebotomy remains the sole recommended treatment for hereditary hemochromatosis and should be undertaken in a case-specific manner.

Chelation therapy

In patients with hemochromatosis and heart disease, anemia, or poor venous access, treatment with iron chelation agents is recommended and includes the following agents:

Deferoxamine

Deferasirox

Deferiprone

Iron-binding dendrimers

Surgery

Surgical procedures are used to treat 2 important complications of hemochromatosis: end-stage liver disease and severe arthropathy. Orthotopic liver transplantation is the only therapeutic option when end-stage liver disease progresses despite iron-reduction therapy.
This intervention is also indicated in cases with the development of hepatocellular carcinoma.

Surgical arthroplasty is considered if joint destruction becomes severe despite medical therapy.

See Treatment and Medication for more detail.

What is hemochromatosis? Hemochromatosis is a genetic disorder where the body isn’t able to regulate its iron absorption. Iron levels in the body build up over time and damage the liver as well as other organs, through the generation of free radicals. Courtesy of Osmosis.org (https://www.osmosis.org/).

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