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Association of porphyria cutanea tarda with hereditary hemochromatosis.
J Am Acad Dermatol. 2004 Aug; 51(2):205-11.JA

Abstract

BACKGROUND

An increased frequency of hereditary hemochromatosis gene mutations occurs in patients with porphyria cutanea tarda. Polymerase chain reaction analysis of peripheral blood for hemochromatosis gene (HFE) mutations is available for clinical use. Early detection and treatment of hereditary hemochromatosis limit disease progression and improve life expectancy.

OBJECTIVE

We present 8 patients with porphyria cutanea tarda subsequently found to have hereditary hemochromatosis or mutations in the HFE gene.

METHODS

Retrospective review of patients in whom both porphyria cutanea tarda and hereditary hemochromatosis or HFE gene mutations were diagnosed between 1976 and 2000.

RESULTS

Eight patients with porphyria cutanea tarda (6 males, 2 females; age range, 4-60 years; mean age at diagnosis of porphyria cutanea tarda, 42 years) were subsequently found to have hepatic iron overload or HFE gene mutations. Two patients had liver biopsy findings compatible with homozygous hereditary hemochromatosis. In the other 6 patients, HFE gene analysis revealed 3 homozygous C282Y, 1 compound heterozygous C282Y/H63D, and 2 heterozygous C282Y mutations. Seven patients (88%) had no specific signs or symptoms of hereditary hemochromatosis at diagnosis. In 5 patients (63%), the diagnosis of hereditary hemochromatosis or HFE gene mutation was initially suspected by the dermatologist.

CONCLUSION

Porphyria cutanea tarda can be an important cutaneous marker for patients with mutations of the HFE gene. HFE gene analysis should be done in patients who present with porphyria cutanea tarda. The dermatologist may play a key role in the early diagnosis of subclinical hereditary hemochromatosis in patients who present with porphyria cutanea tarda.

Authors+Show Affiliations

Department of Dermatology, Mayo Clinic, Rochester, MN 55905, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15280838

Citation

Mehrany, Khosrow, et al. "Association of Porphyria Cutanea Tarda With Hereditary Hemochromatosis." Journal of the American Academy of Dermatology, vol. 51, no. 2, 2004, pp. 205-11.
Mehrany K, Drage LA, Brandhagen DJ, et al. Association of porphyria cutanea tarda with hereditary hemochromatosis. J Am Acad Dermatol. 2004;51(2):205-11.
Mehrany, K., Drage, L. A., Brandhagen, D. J., & Pittelkow, M. R. (2004). Association of porphyria cutanea tarda with hereditary hemochromatosis. Journal of the American Academy of Dermatology, 51(2), 205-11.
Mehrany K, et al. Association of Porphyria Cutanea Tarda With Hereditary Hemochromatosis. J Am Acad Dermatol. 2004;51(2):205-11. PubMed PMID: 15280838.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of porphyria cutanea tarda with hereditary hemochromatosis. AU - Mehrany,Khosrow, AU - Drage,Lisa A, AU - Brandhagen,David J, AU - Pittelkow,Mark R, PY - 2004/7/29/pubmed PY - 2004/9/29/medline PY - 2004/7/29/entrez SP - 205 EP - 11 JF - Journal of the American Academy of Dermatology JO - J. Am. Acad. Dermatol. VL - 51 IS - 2 N2 - BACKGROUND: An increased frequency of hereditary hemochromatosis gene mutations occurs in patients with porphyria cutanea tarda. Polymerase chain reaction analysis of peripheral blood for hemochromatosis gene (HFE) mutations is available for clinical use. Early detection and treatment of hereditary hemochromatosis limit disease progression and improve life expectancy. OBJECTIVE: We present 8 patients with porphyria cutanea tarda subsequently found to have hereditary hemochromatosis or mutations in the HFE gene. METHODS: Retrospective review of patients in whom both porphyria cutanea tarda and hereditary hemochromatosis or HFE gene mutations were diagnosed between 1976 and 2000. RESULTS: Eight patients with porphyria cutanea tarda (6 males, 2 females; age range, 4-60 years; mean age at diagnosis of porphyria cutanea tarda, 42 years) were subsequently found to have hepatic iron overload or HFE gene mutations. Two patients had liver biopsy findings compatible with homozygous hereditary hemochromatosis. In the other 6 patients, HFE gene analysis revealed 3 homozygous C282Y, 1 compound heterozygous C282Y/H63D, and 2 heterozygous C282Y mutations. Seven patients (88%) had no specific signs or symptoms of hereditary hemochromatosis at diagnosis. In 5 patients (63%), the diagnosis of hereditary hemochromatosis or HFE gene mutation was initially suspected by the dermatologist. CONCLUSION: Porphyria cutanea tarda can be an important cutaneous marker for patients with mutations of the HFE gene. HFE gene analysis should be done in patients who present with porphyria cutanea tarda. The dermatologist may play a key role in the early diagnosis of subclinical hereditary hemochromatosis in patients who present with porphyria cutanea tarda. SN - 1097-6787 UR - https://www.unboundmedicine.com/medline/citation/15280838/Association_of_porphyria_cutanea_tarda_with_hereditary_hemochromatosis_ DB - PRIME DP - Unbound Medicine ER -