Hemochromatosis

Alethea Y. Turner, FAAFP, DO and Nikita Anna Mathew, DO Reviewed 06/2022

BASICS

DESCRIPTION

Hereditary hemochromatosis (HH) is a common genetic disease with autosomal recessive inheritance that results in iron overload and subsequent deposition into various tissues.

HH incl...

DIAGNOSIS

HISTORY

Fatigue
Weakness
Arthralgias
Abdominal pain
Loss of libido or impotency
Symptoms of diabetes
Skin pigmentation or blistering
Dyspnea on exertion

PHYSICAL EXAM

Hepatomegaly and/or splenomegaly
I...

TREATMENT

GENERAL MEASURES

Due to a lack of evidence-based data, there is debate regarding when treatment should be initiated (particularly in asymptomatic patients), as well as what the target serum i...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

Measure hemoglobin and hematocrit before each phlebotomy; skip phlebotomy if hemoglobin is <11 g/dL (2,3).
During the initiation phase of tre...

REFERENCES

Buzzetti E, Kalafateli M, Thorburn D, et al. Interventions for hereditary haemochromatosis: an attempted network meta-analysis. Cochrane Database Syst Rev. ...

ADDITIONAL READING

U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med. 2006;145(3):204–208. [View Abstract on OvidM...

CODES

ICD10

E83.110 Hereditary hemochromatosis
E83.118 Other hemochromatosis
E83.111 Hemochromatosis due to repeated red blood cell transfusions
E83.119 Hemochromatosis, unspecified

SNOMED

35400008 Heredita...

CLINICAL PEARLS

Types 1 to 3 involve a deficiency in an iron-regulating hormone (hepcidin), which causes increased intestinal absorption of iron.
Type 4 is caused by an insensitivity of ferroportin to ...

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