Association of porphyria cutanea tarda with hereditary hemochromatosis

Mehrany, Khosrow; Drage, Lisa A.; Brandhagen, David J.; Pittelkow, Mark R.

doi:10.1016/j.jaad.2003.08.015

Cited by 44 publications

(26 citation statements)

References 33 publications

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“…It is well known that HH is a risk factor for sporadic PCT. 13 HH is one of the most common autosomal recessive disorders in the Caucasian population of European descent. The gene HFE and its mutations leading to hemochromatosis (C282Y and H63D) have been studied in various races.…”

Section: Discussionmentioning

confidence: 99%

Photodermatoses in African Americans: A retrospective analysis of 135 patients over a 7-year period

Kerr

Lim

2007

Journal of the American Academy of Dermatology

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Section: Discussionmentioning

confidence: 99%

Photodermatoses in African Americans: A retrospective analysis of 135 patients over a 7-year period

Kerr

Lim

2007

Journal of the American Academy of Dermatology

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“…The prevalence of C282Y homozygosity among patients with porphyria cutanea tarda (PCT) was found to be increased significantly compared with control populations, ranging from 9% to 17% in several studies [108][109][110][111][112][113][114][115][116][117][118][119][120][121][122][123][124]. No association between PCT and the C282Y polymorphism was found in Italian patients [125].…”

Section: Porphyria Cutanea Tardamentioning

confidence: 99%

EASL clinical practice guidelines for HFE hemochromatosis

Ji-don¹

2010

Journal of Hepatology

486

167

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Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis (HFE-HC) is by far the most frequent and most well-defined inherited cause when considering epidemiological aspects and risks for iron-related morbidity and mortality. The majority of patients with HFE-HC are homozygotes for the C282Y polymorphism [1]. Without therapeutic intervention, there is a risk that iron overload will occur, with the potential for tissue damage and disease. While a specific genetic test now allows for the diagnosis of HFE-HC, the uncertainty in defining cases and disease burden, as well as the low phenotypic penetrance of C282Y homozygosity poses a number of clinical problems in the management of patients with HC. This Clinical Practice Guideline will therefore, focus on HFE-HC, while rarer forms of genetic iron overload recently attributed to pathogenic mutations of transferrin receptor 2, (TFR2), hepcidin (HAMP), hemojuvelin (HJV), or to a sub-type of ferroportin (FPN) mutations, on which limited and sparse clinical and epidemiologic data are available, will not be discussed. We have developed recommendations for the screening, diagnosis, and management of HFE-HC.

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“…Two studies 124,125 met the inclusion criteria; however, these did not supply all of the data required and so the search was extended to include relevant audit studies that reported the necessary data ( Table 31). …”

Section: Liver Biopsy Complicationsmentioning

confidence: 99%

Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation

Bryant

Cooper²,

Picot³

et al. 2009

Health Technol Assess

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Association of porphyria cutanea tarda with hereditary hemochromatosis

Cited by 44 publications

References 33 publications

Photodermatoses in African Americans: A retrospective analysis of 135 patients over a 7-year period

Photodermatoses in African Americans: A retrospective analysis of 135 patients over a 7-year period

EASL clinical practice guidelines for HFE hemochromatosis

Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation

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