Screening for Hereditary Hemochromatosis: A Clinical Practice Guideline from the American College of Physicians

4 October 2005 | Volume 143 Issue 7 | Pages 517-521

Hereditary hemochromatosis is a genetic disorder of iron metabolism. Diagnosis of hereditary hemochromatosis is usually based on a combination of various genetic or phenotypic criteria. Decisions regarding screening are difficult because of the variable penetrance of mutations of the HFE gene and the absence of any definitive trials addressing the benefits and risks of therapeutic phlebotomy in asymptomatic patients or those with only laboratory abnormalities. The purpose of this guideline is to increase physician awareness of hereditary hemochromatosis, particularly the variable penetrance of genetic mutations; aid in case finding; and explain the role of genetic testing. This guideline provides recommendations based on a review of evidence in the accompanying background paper by Schmitt and colleagues. The target audience for this guideline is internists and other primary care physicians. The target patient population is all persons who have a probability or susceptibility of developing hereditary hemochromatosis, including the relatives of individuals who already have the disease.

*This paper, written by Amir Qaseem, MD, PhD, MHA; Mark Aronson, MD; Nick Fitterman, MD; Vincenza Snow, MD; Kevin B. Weiss, MD, MPH; and Douglas K. Owens, MD, MS, was developed for the Clinical Efficacy Assessment Subcommittee of the American College of Physicians (ACP): Douglas K. Owens, MD, MS (Chair); Mark Aronson, MD; Patricia Barry, MD, MPH; Donald E. Casey Jr., MD, MPH, MBA; J. Thomas Cross Jr., MD, MPH; Nick Fitterman, MD; E. Rodney Hornbake, MD; Katherine D. Sherif, MD; and Kevin Weiss, MD, MPH (Immediate Past Chair). Approved by the ACP Board of Regents on 16 July 2005.

Author and Article Information

From the American College of Physicians, Philadelphia, Pennsylvania; Beth Israel Deaconess Medical Center, Boston, Massachusetts; North Shore Medical Group, Huntington, New York; VA Palo Alto Health Care System and Stanford University, Stanford, California; and Hines VA Hospital and Northwestern University, Chicago, Illinois.

Note: Clinical practice guidelines are "guides" only and may not apply to all patients and all clinical situations. Thus, they are not intended to override clinicians' judgment. All ACP clinical practice guidelines are considered automatically withdrawn or invalid 5 years after publication, or once an update has been issued.

Annals of Internal Medicine encourages readers to copy and distribute this paper, providing such distribution is not for profit. Commercial distribution is not permitted without the express permission of the publisher.

Grant Support: Financial support for the development of this guideline comes exclusively from the ACP operating budget.

Potential Financial Conflicts of Interest: None disclosed.

Requests for Single Reprints: Amir Qaseem, MD, PhD, MHA, American College of Physicians, 190 N. Independence Mall West Philadelphia, PA 19106; e-mail, aqaseem{at}acponline.org.

Current Author Addresses: Drs. Qaseem and Snow: American College of Physicians, 190 N. Independence Mall West, Philadelphia, PA 19106.

Dr. Aronson: 330 Brookline Avenue, Boston, MA 02215.

Dr. Fitterman: 120 New York Avenue, Huntington, NY 11743.

Dr. Weiss: 151H, PO Box 5000, Hines, IL 60141.

Dr. Owens: 117 Encina Commons, Stanford, CA 94305.