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## Complete Summary

#### GUIDELINE TITLE

Screening for hereditary hemochromatosis: a clinical practice guideline
from the American College of Physicians.

#### BIBLIOGRAPHIC SOURCE(S)

Qaseem A, Aronson M, Fitterman N, Snow V, Weiss KB, Owens DK. Screening
for hereditary hemochromatosis: a clinical practice guideline from the
American College of Physicians. Ann Intern Med 2005 Oct 4;143(7):517-21.
\[21 references\]
[PubMed](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16204164)

#### GUIDELINE STATUS

This is the current release of the guideline.

### COMPLETE SUMMARY CONTENT

 SCOPE\
 METHODOLOGY - including Rating Scheme and Cost Analysis\
 RECOMMENDATIONS\
 EVIDENCE SUPPORTING THE RECOMMENDATIONS\
 BENEFITS/HARMS OF IMPLEMENTING THE GUIDELINE RECOMMENDATIONS\
 QUALIFYING STATEMENTS\
 IMPLEMENTATION OF THE GUIDELINE\
 INSTITUTE OF MEDICINE (IOM) NATIONAL HEALTHCARE QUALITY REPORT
CATEGORIES\
 IDENTIFYING INFORMATION AND AVAILABILITY\
 DISCLAIMER

### SCOPE

#### DISEASE/CONDITION(S)

Hereditary hemochromatosis

#### GUIDELINE CATEGORY

Screening

#### CLINICAL SPECIALTY

Family Practice\
Gastroenterology\
Internal Medicine\
Medical Genetics

#### INTENDED USERS

Physicians

#### GUIDELINE OBJECTIVE(S)

-   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?

#### TARGET POPULATION

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

#### INTERVENTIONS AND PRACTICES CONSIDERED

**Screening for Hereditary Hemochromatosis**

1.  Case finding

    -   Serum ferritin level

    -   Transferrin saturation test

2.  Genetic testing

#### MAJOR OUTCOMES CONSIDERED

-   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

### METHODOLOGY

#### METHODS USED TO COLLECT/SELECT EVIDENCE

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

#### DESCRIPTION OF METHODS USED TO COLLECT/SELECT THE EVIDENCE

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.

#### NUMBER OF SOURCE DOCUMENTS

**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

#### METHODS USED TO ASSESS THE QUALITY AND STRENGTH OF THE EVIDENCE

Expert Consensus

#### RATING SCHEME FOR THE STRENGTH OF THE EVIDENCE

Not applicable

#### METHODS USED TO ANALYZE THE EVIDENCE

Systematic Review with Evidence Tables

#### DESCRIPTION OF THE METHODS USED TO ANALYZE THE EVIDENCE

Not stated

#### METHODS USED TO FORMULATE THE RECOMMENDATIONS

Expert Consensus

#### DESCRIPTION OF METHODS USED TO FORMULATE THE RECOMMENDATIONS

Not stated

#### RATING SCHEME FOR THE STRENGTH OF THE RECOMMENDATIONS

Not applicable

#### COST ANALYSIS

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

#### METHOD OF GUIDELINE VALIDATION

External Peer Review\
Internal Peer Review

#### DESCRIPTION OF METHOD OF GUIDELINE VALIDATION

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

### RECOMMENDATIONS

#### MAJOR RECOMMENDATIONS

**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.

#### CLINICAL ALGORITHM(S)

None provided

### EVIDENCE SUPPORTING THE RECOMMENDATIONS

#### TYPE OF EVIDENCE SUPPORTING THE RECOMMENDATIONS

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

### BENEFITS/HARMS OF IMPLEMENTING THE GUIDELINE RECOMMENDATIONS

#### POTENTIAL BENEFITS

-   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.

#### POTENTIAL HARMS

-   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.

### QUALIFYING STATEMENTS

#### QUALIFYING STATEMENTS

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.

### IMPLEMENTATION OF THE GUIDELINE

#### DESCRIPTION OF IMPLEMENTATION STRATEGY

An implementation strategy was not provided.

#### IMPLEMENTATION TOOLS

Patient Resources

For information about
[availability](#identifying-information-and-availability), see the
\"Availability of Companion Documents\" and \"Patient Resources\" fields
below.

### INSTITUTE OF MEDICINE (IOM) NATIONAL HEALTHCARE QUALITY REPORT CATEGORIES

#### IOM CARE NEED

Staying Healthy

#### IOM DOMAIN

Effectiveness\
Patient-centeredness

### IDENTIFYING INFORMATION AND AVAILABILITY

#### BIBLIOGRAPHIC SOURCE(S)

Qaseem A, Aronson M, Fitterman N, Snow V, Weiss KB, Owens DK. Screening
for hereditary hemochromatosis: a clinical practice guideline from the
American College of Physicians. Ann Intern Med 2005 Oct 4;143(7):517-21.
\[21 references\]
[PubMed](http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=16204164)

#### ADAPTATION

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

#### DATE RELEASED

2005 Oct 4

#### GUIDELINE DEVELOPER(S)

American College of Physicians - Medical Specialty Society

#### SOURCE(S) OF FUNDING

American College of Physicians

#### GUIDELINE COMMITTEE

Clinical Efficacy Assessment Subcommittee (CEAS)

#### COMPOSITION OF GROUP THAT AUTHORED THE GUIDELINE

*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*)

#### FINANCIAL DISCLOSURES/CONFLICTS OF INTEREST

None disclosed

#### GUIDELINE STATUS

This is the current release of the guideline.

#### GUIDELINE AVAILABILITY

Electronic copies: Available from the [Annals of Internal Medicine Web
site](http://www.annals.org/cgi/content/full/143/7/517#FN).

Print copies: Available from the American College of Physicians (ACP),
190 N. Independence Mall West, Philadelphia PA 19106-1572.

#### AVAILABILITY OF COMPANION DOCUMENTS

The following is available:

-   Schmitt, B, Golub, RM, Green, R. 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(7):522-36. Electronic
    copies: Available from the [Annals of Internal Medicine Web
    site](http://www.annals.org/cgi/content/full/143/7/522).

Print copies: Available from the American College of Physicians (ACP),
190 N. Independence Mall West, Philadelphia PA 19106-1572.

#### PATIENT RESOURCES

The following is available:

-   Summaries for patients. Screening for hereditary hemochromatosis:
    recommendations from the American College of Physicians. Ann Intern
    Med 2005 Oct 4;143(7):I-46.

Electronic copies: Available in Portable Document Format (PDF) from the
[Annals of Internal Medicine Web
site](http://www.annals.org/cgi/summary_pdf/143/7/517.pdf).

Print copies: Available from the American College of Physicians (ACP),
190 N. Independence Mall West, Philadelphia PA 19106-1572.

Please note: This patient information is intended to provide health
professionals with information to share with their patients to help them
better understand their health and their diagnosed disorders. By
providing access to this patient information, it is not the intention of
NGC to provide specific medical advice for particular patients. Rather
we urge patients and their representatives to review this material and
then to consult with a licensed health professional for evaluation of
treatment options suitable for them as well as for diagnosis and answers
to their personal medical questions. This patient information has been
derived and prepared from a guideline for health care professionals
included on NGC by the authors or publishers of that original guideline.
The patient information is not reviewed by NGC to establish whether or
not it accurately reflects the original guideline\'s content.

#### NGC STATUS

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

#### COPYRIGHT STATEMENT

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

### DISCLAIMER

#### NGC DISCLAIMER

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© 1998-2008 National Guideline Clearinghouse

Date Modified: 11/10/2008