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Screening for Hemochromatosis: ACP Practice Guideline

Insufficient evidence exists to recommend for or against screening for HH in the general population.

Based on evidence from a systematic review, the American College of Physicians (ACP) has developed a clinical practice guideline for hereditary hemochromatosis (HH) screening. In three studies of primary care cohorts and two studies of general populations, the prevalence of HH was 0.2%–0.6%.

No prospective studies were found in which survival rates or complications were compared between patients with or without HH. Results from three prospective studies that involved C282Y mutation homozygotes failed to demonstrate an association between transferrin saturation percentages or ferritin levels and HH clinical manifestations. In three cross-sectional studies, researchers showed that C282Y homozygotes with serum ferritin levels of 1000 µg/L or lower were unlikely to develop cirrhosis. Based on results from 12 studies (with various designs) of patients with HH, cirrhosis increased mortality rates consistently, whereas diabetes did not. In no primary care studies were transferrin saturation or ferritin levels compared with a gold standard for diagnosis in all screened patients, nor were any randomized trials conducted to determine the efficacy of phlebotomy for preventing complications in asymptomatic patients with HH.

The ACP stated the following:

• Insufficient evidence exists to recommend for or against screening for HH in the general population.
  
• For HH case-finding, serum ferritin and transferrin saturation tests should be performed.
  
• Physicians should discuss risks, benefits, and limitations of genetic testing with patients who have family histories of HH or those who have elevated ferritin levels or transferrin saturation percentages.
  
• Further research on HH treatments is needed.
  

Comment: Although identifying a disease in its asymptomatic phase to prevent morbidity and mortality seems to make sense, little evidence exists to support population screening for HH. We do not know which patients with HH will progress to clinical disease, or whether treating patients in the presymptomatic phase is beneficial. These guidelines and the accompanying review do provide detail on what is known, but clearly, high-quality research is needed if we are to make headway against this disease.

— Richard Saitz, MD, MPH, FACP, FASAM

Published in Journal Watch General Medicine October 18, 2005

Citation(s):

Qaseem A et al. Screening for hereditary hemochromatosis: A clinical practice guideline from the American College of Physicians. Ann Intern Med 2005 Oct 4; 143:517-21.

• Original article (Subscription may be required)
• Medline abstract (Free)

Schmitt B et al. Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: Systematic review for the American College of Physicians. Ann Intern Med 2005 Oct 4; 143:522-36.

• Original article (Subscription may be required)
• Medline abstract (Free)