eMedicine Specialties > Dermatology > Metabolic Diseases

Hemochromatosis: Follow-up

Author: Jacek Drobnik, MD, PhD, Assistant Professor of Physiology and Medicine, Department of Pathophysiology, Medical University of Lodz, Poland
Coauthor(s): Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Contributor Information and Disclosures

Updated: Oct 14, 2009

Follow-up

Further Outpatient Care

  • Physicians should be aware of the possibility of hereditary hemochromatosis (HH), and they should perform diagnostic tests when hereditary hemochromatosis is suspected. Moreover, patient education as to the importance of early diagnosis and lifelong treatment is essential for symptom-free life.
  • Continuous observation of patients with hereditary hemochromatosis regarding the potential complications of the disease is recommended.
  • Regular monitoring of hematocrit, hemoglobin, and serum ferritin levels is necessary in patients undergoing phlebotomy.
  • Genetic testing for hereditary hemochromatosis should also be performed in family members of patients with hereditary hemochromatosis.

Deterrence/Prevention

  • As a result of the high frequency of hereditary hemochromatosis – associated mutations, the American Medical Association recommends the establishment of guidelines for population screening.
    • Screening tests for the general population comprise measurement of serum transferrin saturation or serum iron concentration. When transferrin saturation is greater than 60% or greater than 50% in women who are premenopausal, or when serum iron concentration is greater than 150 mcg/dL, other measurements are recommended.
    • Screening and diagnosis cannot be based on single-measurement transferrin saturation or serum iron concentrations because they can be falsely increased as the result of diet, alcohol consumption, or other liver diseases.
    • Adams and coworkers suggested the introduction of the unbound iron-binding capacity measurement to preselect patients for genotyping.43
    • Detection of homozygosity for the C282Y mutation or compound heterozygosity for the C282Y/H63D mutations is believed to be diagnostic. On the other hand, negative results on DNA tests do not exclude hereditary hemochromatosis, which can also be the result of other mutations.44
    • Liver biopsy is not required for the diagnosis of hereditary hemochromatosis; however, liver biopsy may be useful in C282Y homozygotes with suspected liver disease, in C282Y homozygotes or heterozygotes with serum ferritin levels greater than 1000 mcg/L, in patients without C282Y mutations with unexplained iron overload, and in patients with additional risk factors for liver disease.45
  • Relatives of patients with hereditary hemochromatosis should undergo DNA testing to detect subclinical cases of hereditary hemochromatosis so that early treatment for the disease can be begun.16
  • As the most common autosomal recessive disorder in populations of northern European descent, hereditary hemochromatosis may be an almost ideal disease for which to perform population screening.46 The advent of genetic testing for hereditary hemochromatosis focuses concern on informed consent and the ethical, legal, and social implications of screening, particularly in relation to medical and general discrimination.

Complications

  • Hemochromatosis may be associated with porphyria; therefore, evaluate patients for this complication.
  • In one study, homozygosity for the C282Y hemochromatosis mutation was linked to an earlier onset of skin lesions in patients with either familial or sporadic porphyria cutanea tarda; the effect is more marked in familial porphyria cutanea tarda, in which anticipation was demonstrated in family studies.47 Analysis of the frequencies of hemochromatosis genotypes in each type of porphyria cutanea tarda indicated that C282Y homozygosity is a significant susceptibility factor in both types.

Prognosis

  • The incidence and course of hereditary hemochromatosis in 179 white Danish patients with clinically overt hemochromatosis were studied from 1948-1985.18 Survival duration was significantly reduced in patients with liver cirrhosis, diabetes mellitus, or both. In contrast, survival rate in patients without cirrhosis or diabetes was similar to rates expected in the general population. Survival rate in patients with arthropathy was higher than in patients without. Patients adequately treated with phlebotomy had a higher survival rate than patients treated inadequately. The primary causes of death were hepatic failure due to cirrhosis (32%) and cirrhosis with liver cancer (23.1%).
  • Sharpened diagnostic awareness has improved early diagnosis of hereditary hemochromatosis and increased the diagnostic frequency of clinical hemochromatosis. Adequate phlebotomy treatment was the major determinant of survival, and it markedly improved prognosis. Early detection and treatment of this common iron overload disorder is crucial and can guarantee a normal lifespan in patients with hemochromatosis.

Miscellaneous

Medicolegal Pitfalls

  • Failure to diagnose hemochromatosis early when therapy may be effective constitutes a potential pitfall. In addition, take note of the increased risk of hepatoma in cirrhotic livers of patients with hemochromatosis.
 


More on Hemochromatosis

Overview: Hemochromatosis
Differential Diagnoses & Workup: Hemochromatosis
Treatment & Medication: Hemochromatosis
Follow-up: Hemochromatosis
References
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References

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Further Reading

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Keywords

hemochromatosis, hereditary hemochromatosis, HH, bronze diabetes, iron deposition disease, cirrhosis, diabetes mellitus, hyperpigmentation, cardiac failure, iron overload, hepatic iron overload, iron homeostasis, iron metabolism, excess iron absorption, neonatal iron overload, neonatal hemochromatosis

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Contributor Information and Disclosures

Author

Jacek Drobnik, MD, PhD, Assistant Professor of Physiology and Medicine, Department of Pathophysiology, Medical University of Lodz, Poland
Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

Peter Fritsch, MD, Chair, Department of Dermatology and Venereology, University of Innsbruck, Austria
Peter Fritsch, MD is a member of the following medical societies: American Dermatological Association, International Society of Pediatric Dermatology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Jeffrey P Callen, MD, Professor of Medicine, Chief, Division of Dermatology, University of Louisville School of Medicine
Jeffrey P Callen, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and American College of Rheumatology
Disclosure: Amgen Honoraria Consulting; Abbott Honoraria Consulting; Electrical Optical Sciences Honoraria Consulting; Centocor Honoraria Consulting; Medicis Honoraria Consulting; Celgene Honoraria Consulting

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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