Hemochromatosis screening

Jump to: navigation, search

Hemochromatosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hemochromatosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hemochromatosis screening On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hemochromatosis screening

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hemochromatosis screening

CDC on Hemochromatosis screening

Hemochromatosis screening in the news

Blogs on Hemochromatosis screening

Directions to Hospitals Treating Hemochromatosis

Risk calculators and risk factors for Hemochromatosis screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]

Overview

Routine screening of the general population for hereditary hemochromatosis, that is, by genetic testing, has been evaluated by the US Preventive Services Task Force (USPSTF), among other groups. In case-finding for hereditary hemochromatosis, serum ferritin and transferrin saturation tests should be performed. Genotyping and liver biopsy is suggested in cases which strongly suggest hemochromatosis due to high levels of serum ferritin and transferrin saturation.

Screening

Screening specifically means looking for a disease in people who have no symptoms. Diagnosis, on the other hand refers to testing people who have symptoms of a disease. Standard diagnostic measures for haemochromatosis, serum transferrin saturation and serum ferritin tests, are not a part of routine medical testing. Screening for hemochromatosis is recommended if the patient has a parent, child or sibling with the disease, or have any of the following signs and symptoms:[1][2]

  • Joint disease
  • Severe fatigue
  • Heart disease
  • Elevated liver enzymes
  • Impotence
  • Diabetes

Routine screening of the general population for hereditary hemochromatosis, that is, by genetic testing, has been evaluated by the US Preventive Services Task Force (USPSTF), among other groups. In case-finding for hereditary hemochromatosis, serum ferritin and transferrin saturation tests should be performed.[3] The USPSTF recommended against doing genetic testing to screen the general population for hereditary hemochromatosis because the likelihood of diagnosing clinically relevant, iron accumulating hereditary hemochromatosis in a treatable patient population approaches less than 1 in 1000 unselected patients. Also, there is no evidence that doing phlebotomy to treat asymptomatic, non-iron overloaded carriers of HFE mutations has any clinical benefit. Also, genetic carriers of the disease may never manifest the symptoms of the disease, so that the potential harm of the attendant surveillance, privacy issues, unnecessary invasive work-up, and anxiety outweigh the potential benefits. [4] [5]

Screening and diagnosis of hemochromatosis.WT, wild type; HII, histologic iron index; CII, chemical iron index; HH, hereditary hemochromatosis[6][7][8][9][10][11][12][13]

 
 
 
 
 
 
 
 
 
 
 
 
Serum Transferin Saturation
TS
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
<50% premenupasal females
<60% men, postmenupasal women
 
 
 
 
 
≥50% premenupasal females
≥60% men, postmenupasal women
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
1 Repeat Transferin Saturation TS
2 Serum Feretin SF
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Repeat testing every 5 year
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
TS:<50% premenupasal females
TS: <60% men, postmenupasal women
SF: 20-250μg/L premenupasal females
SF: 10-120μg/L men, postmenupasal women
 
 
 
 
 
 
 
 
TS:≥50% premenupasal females
TS: ≥60% men, postmenupasal women
SF:>200 μg/L premenupasal females
SF:>300 μg/L men, postmenupasal women
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Repeat TS and SF every 2-3 year
 
 
 
 
Serum Feretin<1000 μg/L
 
 
 
 
 
 
Serum Feretin>1000 μg/L
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Geno-typing
 
 
 
 
 
 
 
 
Liver biopsy
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
WT/WT genotype
 
C282Y/WT genotype
 
 
 
C282Y/H63D genotype
 
C282Y/C282Y genotype
 
 
Histological iron index<0.15
Chemical iron index<2.0
 
Histological iron index>0.15
Chemical iron index>2.0
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Secondray hemochromatosis
 
 
 
 
 
 
 
Phelebotomy to maintain Serum Feretin
 
 
 
 
Repeat TS and SF after 2-3 year
 
Phelebotomy to maintain Serum Feretin
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Screen family with Transferin Saturation & Serum Feretin if atypical HH suspected
 
 
 
 
 
 
 
Screen family with genotyping
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Moniter Transferin Saturation & Serum Feretin in subclinical members


References

  1. Screening and Diagnosis Mayo Foundation for Medical Education and Research (MFMER). Retrieved 18 March, 2007
  2. [http://www.annals.org/cgi/content/full/143/7/I-46 Screening for Hereditary Hemochromatosis: Recommendations from the American College of Physicians Annals of Internal Medicine (2005) 4 October, Volume 143 Issue 7. (Page I-46). American College of Physicians. Retrieved 18 March, 2007
  3. Wolthuizen M, Nisselle A, Halliday J, Metcalfe SA, Aitken M, Allen KJ; et al. (2013). "Why do people choose not to have screening for hemochromatosis?". Genet Test Mol Biomarkers. 17 (1): 21–4. PMID 23098241. doi:10.1089/gtmb.2012.0247. 
  4. "Screening for hemochromatosis: recommendation statement". Ann. Intern. Med. 145 (3): 204–8. 2006. PMID 16880462. 
  5. Screening for Hemochromatosis U.S. Preventive Services Task Force (2006). Summary of Screening Recommendations and Supporting Documents. Retrieved 18 March, 2007
  6. Bacon BR (2012). "Hemochromatosis: discovery of the HFE gene.". Mo Med. 109 (2): 133–6. PMID 22675794. 
  7. Asia-Pacific Working Party on Prevention of Hepatocellular Carcinoma (2010). "Prevention of hepatocellular carcinoma in the Asia-Pacific region: consensus statements.". J Gastroenterol Hepatol. 25 (4): 657–63. PMID 20492323. doi:10.1111/j.1440-1746.2009.06167.x. 
  8. Adams PC (2015). "Epidemiology and diagnostic testing for hemochromatosis and iron overload.". Int J Lab Hematol. 37 Suppl 1: 25–30. PMID 25976957. doi:10.1111/ijlh.12347. 
  9. Salgia RJ, Brown K (2015). "Diagnosis and management of hereditary hemochromatosis.". Clin Liver Dis. 19 (1): 187–98. PMID 25454304. doi:10.1016/j.cld.2014.09.011. 
  10. Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis.". Am Fam Physician. 87 (3): 183–90. PMID 23418762. 
  11. Adams PC, Barton JC, Guo H, Alter D, Speechley M (2015). "Serum ferritin is a biomarker for liver mortality in the Hemochromatosis and Iron Overload Screening Study.". Ann Hepatol. 14 (3): 348–53. PMID 25864215. 
  12. Adams PC, McLaren CE, Speechley M, McLaren GD, Barton JC, Eckfeldt JH (2013). "HFE mutations in Caucasian participants of the Hemochromatosis and Iron Overload Screening study with serum ferritin level <1000 µg/L.". Can J Gastroenterol. 27 (7): 390–2. PMC 3956024Freely accessible. PMID 23862168. 
  13. Lim A, Speechley M, Adams PC (2014). "Predicting C282Y homozygote genotype for hemochromatosis using serum ferritin and transferrin saturation values from 44,809 participants of the HEIRS study.". Can J Gastroenterol Hepatol. 28 (9): 502–4. PMC 4205907Freely accessible. PMID 25314357. 



Linked-in.jpg