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Diagnosis and Management of Hemochromatosis

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Diagnosis and Management of Hemochromatosis AASLD Practice Guidelines Diagnosis and Management of Hemochromatosis ANTHONY S. TAVILL PREAMBLE BACKGROUND Practice guidelines, intended for use by physicians, suggest Hereditary hemochromatosis (HH) is the most common, preferable approaches to the diagnostic, therapeutic, and pre- identified, genetic disorder in the Caucasian population. Al- ventative aspects of care. These guidelines are intended to be though its geographic distribution is worldwide, it is concen- flexible, in contrast with “standards of care,” which are inflex- trated in individuals of northern European origin, particularly ible policies to be followed in almost every case.1 They are of Nordic or Celtic ancestry, in whom it occurs with a preva- developed in a manner consistent with the American Gastro- lence close to 1 per 200 of the population.4-6 The pathophys- enterological Associations’ Policy Statement on Development iologic predisposition to increased and inappropriate absorp- and Use of Practice Guidelines.2 tion of dietary iron may lead to the progressive development Specific recommendations are based on relevant published of life-threatening complications of cirrhosis, hepatocellular information. In an attempt to standardize recommendations, cancer, diabetes, and heart disease. The gene defect described 7 the Practice Guidelines Committee of the American Associa- in 1996 isaGtoAmissense mutation (C282Y) leading to the tion for the Study of Liver Diseases modified the categories of substitution of tyrosine for cysteine at the 282 amino acid position of the protein product of the newly discovered HFE the Infectious Diseases Society of America’s Quality Stan- gene located on the short arm of chromosome 6 (6p). Another dards.3 These categories are reported with each recommenda- mutation (H63D) in which aspartic acid is substituted for tion, using the letters A through E to determine the strength of histidine at position 63 has also been associated as a cofactor recommendation (Table 1) and Roman numerals I through IV in some cases of hemochromatosis. The homozygous state in to determine quality of evidence upon which recommenda- which both alleles of chromosome 6 possess the C282Y mu- tions are based (Table 2). tation or the compound heterozygous state with C282Y on These guidelines provide data-supported peer-reviewed one chromosome and H63D on the other, are the predomi- recommendations for the care of patients with hemochroma- nant genetic abnormalities associated with phenotypic HH. In tosis. They are based on the following: (1) a formal review and most studies to date, C282Y/C282Y homozygosity has been analysis of the recent published literature on hemochromato- found in more than 90% of patients with hemochromatosis, sis (Medline Search from 1990-2000); (2) the American Col- while compound heterozygosity (C282Y/H63D) accounts for lege of Physicians’ Manual for Assessing Health Practices and 3% to 5% of such cases in published series. Possession of the Designing Practice Guidelines; (3) several published guide- C282Y mutation on both alleles of the chromosome pair has a lines, including the American Association for the Study of high positive predictive accuracy for phenotypic HH. In the Liver Diseases’ Policy Statement on Development and Use of Prac- only large population study published to date in which pen- tice Guidelines and the American Gastroenterological Associa- etrance of the HFE gene mutation has been studied compre- tion’s Policy Statement on Guidelines2; and (4) the experience hensively, all C282Y homozygotes had elevated transferrin of the author in the clinical care of patients with hemochro- saturation (100% positive predictive accuracy). However, full matosis. expression as defined by progressive tissue iron overload oc- curred in only 58% of these homozygotes.6 Although the vast majority of familial cases of hemochro- matosis in the Anglo-Celtic population are associated with the Abbreviations: HH, hereditary hemochromatosis; HIC, hepatic iron concentration; described pathogenic mutations of the HFE gene, it is highly HII, hepatic iron index; HCC, hepatocellular carcinoma; TIBC, total iron-binding capac- probable that genes other than HFE play a role in familial iron ity; UIBC, unsaturated iron-binding capacity. overload in other populations. In particular, there are well From the MetroHealth Medical Center, and Case Western Reserve University, Cleve- documented families in Italy with iron overload comparable land, OH. with HFE-related hemochromatosis,8-10 in whom neither the Received February 2, 2001; accepted March 16, 2001. This Guideline has been commissioned and approved by the American Association for C282Y nor H63D mutation existed, and in whom the genetic the Study of Liver Diseases and has received the endorsement of the American College of abnormality could not be located to chromosome 6p. Gastroenterology and the American Gastroenterological Association. The clinical condition of hereditary hemochromatosis Address correspondence to: Anthony S. Tavill, M.D., Gastroenterology Division, evolves in a series of stages beginning with clinically insignif- MetroHealth Medical Center, 2500 MetroHealth Dr., Cleveland, OH 44109. E-mail: [email protected]; fax: 216-778-4873. icant iron accumulation (0-20 years of age, 0-5 g parenchymal Individual copies of these guidelines can be obtained from the AASLD website at iron storage). This evolves to a stage of iron overload without www.aasld.org. For multiple reprints (100 copies or more) contact W.B. Saunders Com- disease (approximately 20-40 years of age, 10-20 g parenchy- pany, The Curtis Center, Independence Square West, Philadelphia, PA 19106-3399, and mal iron storage), which if left untreated, may progress to a obtain permission from Anthony S. Tavill. Copyright © 2001 by the American Association for the Study of Liver Diseases. stage of iron overload with organ damage (usually more than Ͼ 11,12 0270-9139/01/3305-0038$35.00/0 40 years of age and 20 g parenchymal iron storage). doi:10.1053/jhep.2001.24783 Ideally, any strategy for diagnosis should identify cases before 1321 1322 TAVILL HEPATOLOGY May 2001 TABLE 1. Categories Reflecting the Evidence to Support the Use of a TABLE 3. Management Objectives for HH Guideline Recommendation Management Objectives Category Definition Early diagnosis to prevent organ damage and dysfunction due to tissue iron A Survival benefit toxicity B Improved diagnosis Screening and early detection of asymptomatic HH cases to reduce C Improvement in quality of life mortality D Relevant pathophysiologic parameters improved Recognition and diagnosis of symptomatic cases of HH, to minimize E Impacts cost of health care progression and complications of the disease Adequate treatment of HH to promote rapid, safe, and effective removal of 3 Adapted and modified from Gross et al. iron Vigilant follow-up and maintenance treatment of all cases of HH the third stage of disease has developed so that therapy to remove iron can prevent progression to irreversible tissue The degree of iron overload has a direct impact on life damage. Fortunately, biochemical serum testing with indirect expectancy of the individual with HH. The major causes of iron markers is capable of identifying most cases of iron over- death are decompensated cirrhosis, hepatocellular carcinoma load well before tissue damage has become irreversible. (HCC), diabetes mellitus, and cardiomyopathy.15 These oc- Therefore, these guidelines will emphasize the fundamental curred with a frequency 10- to 119-fold higher than expected objective of detection of HH before organ damage has oc- in an age- and sex-matched population without HH. Survival curred (Table 3). was normal in HH patients in whom treatment was initiated Current clinical practice in diagnosis and management of before the development of cirrhosis or diabetes, confirming HH has evolved from experience in screening healthy blood the importance of early diagnosis and treatment. donors or selected populations and managing patients and their discovered relatives with phenotypic HH.6,12-14 Early in- DIAGNOSIS OF HEREDITARY HEMOCHROMATOSIS stitution of phlebotomy has proven to be a highly effective Target Populations therapy for HH, which prevents morbidity and promotes nor- Target populations are shown in Table 4. The diagnosis of mal longevity.15 As a result, randomized, controlled trials of hemochromatosis is based on documentation of increased other therapies or observation have been regarded as unethi- iron stores, namely increased hepatic iron concentrations as- cal and have not been done. sociated with elevated serum ferritin levels. HH can be further The development of liver injury in those with HH is related defined genotypically by the familial occurrence of iron over- to the progressive accumulation of hepatic iron.15-18 Hepatic load associated with C282Y homozygosity or C282Y/H63D iron concentration increases with age in most homozygotes. compound heterozygosity.20 As serologic iron markers have In HH patients over the age of 40 years, hepatic iron concen- become more widely available over the last several years, the tration is likely to exceed 10,000 ␮g/g dry weight and liver majority of patients with HH are now identified while still biopsy results are more likely to show fibrosis or cirrhosis.16-18 asymptomatic and without evidence of hepatic fibrosis or cir- It was the observation that the hepatic iron concentration rhosis.15 Diagnostic screening strategies should target high- (HIC) increased with age that led to the concept of hepatic risk
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