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Hemochromatosis

Alethea Y. Turner, DO and Bradley Holman Glenn, MD Reviewed 06/2020
 


BASICS

DESCRIPTION

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

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 in evidence-based data, there is debate regarding when treatment should be initiated (particularly in asymptomatic patients), what the target serum indices, and...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Measure hematocrit before each phlebotomy; skip phlebotomy if hemoglobin is <11 g/dL (2).

  • In the initial phases of treatment, check SF every 3...

REFERENCES

1
Buzzetti E, Kalafateli M, Thorburn D, et al. Interventions for hereditary haemochromatosis: an attempted network meta-analysis. Cochrane Database Syst Rev.  2017;(3):CD011647.
2
Powell ...

ADDITIONAL READING

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

CODES

ICD10

  • E83.110 Hereditary hemochromatosis

  • E83.118 Other hemochromatosis

  • E83.111 Hemochromatosis due to repeated red blood cell transfusions

  • E83.119 Hemochromatosis, unspecified

ICD9

  • 275.01 Hereditary h...

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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