This is the current release of the guideline.

Hereditary hemochromatosis

Screening

Family Practice
Gastroenterology
Internal Medicine
Medical Genetics

Physicians

• 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
• To answer the following questions:
  • What is the prevalence of hereditary hemochromatosis in the primary care setting?
  • In asymptomatic patients with hereditary hemochromatosis, what is the risk for end-organ damage or death?
  • How diagnostically useful are transferrin saturation and serum ferritin in identifying patients with hereditary hemochromatosis in the primary care setting?
  • Is phlebotomy efficacious in reducing morbidity or fatal complications in asymptomatic patients with hereditary hemochromatosis?
  • Do the benefits of screening primary care patients for hereditary hemochromatosis outweigh the risks?

All persons who have a probability of or susceptibility for developing hereditary hemochromatosis, including the relatives of individuals who already have the disease

Screening for Hereditary Hemochromatosis

1. Case finding
   • Serum ferritin level
   • Transferrin saturation test
2. Genetic testing

• Prevalence of hereditary hemochromatosis
• Risk for complications of hereditary hemochromatosis in asymptomatic patients
• Sensitivity and specificity of diagnostic tests (i.e., serum ferritin level and transferring saturation)
• Effectiveness of phlebotomy
• Risks and benefits of screening

Hand-searches of Published Literature (Primary Sources)
Searches of Electronic Databases

This guideline is based on the systematic review of the evidence in the background paper (see "Companion Documents" field).

The authors of the background paper conducted a systematic review for each question in MEDLINE for papers published from 1966 through April 2004 by using PubMed Clinical Queries filters for a sensitive search of prognosis, diagnosis, etiology, or treatment depending on the question. They included only English-language studies. Two reviewers independently reviewed all abstracts. A third reviewer resolved conflicts about inclusion of an article. The authors also manually searched references from included studies. The appendix of the background paper includes details for conducting the search for each subquestion.

Question 1: 3 studies in primary care settings and 12 studies in general population setting

Question 2: 11 studies on the relationship between transferrin saturation--serum ferritin level and hereditary hemochromatosis-related disease; 13 studies on the relationship between primary iron tissue deposition and hereditary hemochromatosis-related disease

Question 3: 3 studies

Question 4: 2 studies

Question 5: 4 studies

Expert Consensus

Not applicable

Systematic Review with Evidence Tables

Not stated

Expert Consensus

Not stated

Not applicable

The authors of the systematic review (see "Availability of Companion Documents" field) reviewed published cost analyses.

External Peer Review
Internal Peer Review

This guideline was approved by the American College of Physicians (ACP) Board of Regents on 16 July 2005.

Recommendation 1: There is insufficient evidence to recommend for or against screening for hereditary hemochromatosis in the general population.

Recommendation 2: In case-finding for hereditary hemochromatosis, serum ferritin and transferrin saturation tests should be performed.

Recommendation 3: Physicians should discuss the risks, benefits, and limitations of genetic testing in patients with a positive family history of hereditary hemochromatosis or those with elevated serum ferritin level or transferrin saturation.

Recommendation 4: Further research is needed to establish better diagnostic, therapeutic, and prognostic criteria for hereditary hemochromatosis.

None provided

The recommendations are supported by data from cohort, cross-sectional, and case-control studies.

• Appropriate screening for hereditary hemochromatosis
• Serum ferritin level and transferrin saturation have been useful in identifying patients who are prone to or already have hereditary hemochromatosis.

• The value of detecting individuals who are homozygous for the mutation but do not develop iron overload is controversial. The psychological and social implications of identifying such individuals must be considered. Issues such as the impact on insurability and the anxiety of being labeled with a hereditary illness need to be considered when comparing the benefits and risks of screening.
• False reassurance in the setting of a negative genetic test result is not unreasonable.

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 American College of Physicians (ACP) clinical practice guidelines are considered automatically withdrawn or invalid 5 years after publication, or once an update has been issued.

An implementation strategy was not provided.

Staying Healthy

Effectiveness
Patient-centeredness

Not applicable: The guideline was not adapted from another source.

2005 Oct 4

American College of Physicians - Medical Specialty Society

American College of Physicians

Clinical Efficacy Assessment Subcommittee (CEAS)

Authors: Amir Qaseem, MD, PhD, MHA; Mark Aronson, MD; Nick Fitterman, MD; Vincenza Snow, MD; Kevin B. Weiss, MD, MPH; Douglas K. Owens, MD, MS

Clinical Efficacy Subcommittee Members: 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)

None disclosed

This is the current release of the guideline.

This NGC summary was completed by ECRI on November 23, 2005. The information was verified by the guideline developer on December 13, 2005.

This NGC summary is based on the original guideline, which is subject to the guideline developer's copyright restrictions.