Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- lesões cutâneas bolhosas
Other diagnostic factors
- hiperpigmentação da pele
- hipertricose
- alopecia cicatricial
- urina vermelha
Risk factors
- sexo masculino, de meia idade, branco
- uso de bebidas alcoólicas
- tabagismo
- terapia estrogênica
- hepatite C
- vírus da imunodeficiência humana (HIV)
- mutação do gene da hemocromatose hereditária (HFE)
- mutações da UROD
- exposição a hidrocarbonetos aromáticos policíclicos halogenados
- níveis reduzidos de antioxidantes
- doença renal em estágio terminal
- diabetes mellitus
Diagnostic tests
1st tests to order
- porfirinas plasmáticas totais
- emissão de fluorescência plasmática
- porfirinas urinárias totais
- total de porfirinas dos eritrócitos
Tests to consider
- fracionamento de porfirinas plasmáticas por cromatografia líquida de alta eficiência (HPLC)
- fracionamento de porfirinas urinárias por HPLC
- atividade eritrocitária da uroporfirinogênio descarboxilase (UROD)
- porfirinas fecais
- estudos de ácido desoxirribonucleico (DNA)
- Testes de função hepática
- ferritina sérica
- biópsia hepática
- biópsia de pele
- ensaio de imunoadsorção enzimática (ELISA) sérico para HIV
- anticorpos séricos de superfície da hepatite C
- creatinina
- ureia
- hematócritos
- hemoglobina
Treatment algorithm
sem contraindicações à flebotomia
flebotomia contraindicada ou mal tolerada
recidiva após remissão
Contributors
Authors
Gagan Sood, MD
Associate Professor
Department of Medicine and Surgery
Baylor College of Medicine
Houston
TX
Disclosures
GS is an author of a number of references cited in this topic.
Karl E. Anderson, MD
Professor
Departments of Preventive Medicine and Community Health and Internal Medicine
University of Texas Medical Branch
Galveston
TX
Disclosures
KEA has received grants from the National Institutes of Health, the US Food and Drug Administration, and Alnylam Pharmaceuticals; he is an author of a number of references cited in this topic. KEA has received consulting fees, advisory board fees, and grants to the university from Alnylam Pharmaceuticals; consulting fees, advisory board fees, and grants from Recordati Rare Diseases; and consulting fees and grants from Mitsubishi Tanabe Pharma America.
Peer reviewers
Robert S. Dawe, MBChB, MRCP(UK), MD(Glasgow)
Consultant Dermatologist
Honorary Clinical Senior Lecturer
Department of Dermatology
Ninewells Hospital & Medical School
Dundee
UK
Disclosures
RSD declares that he has no competing interests.
Jeffrey P. Callen, MD
Professor of Medicine (Dermatology)
University of Louisville
Louisville
KY
Disclosures
JPC declares that he has no competing interests.
Montgomery Bissell, MD
Professor and Chief
Gastroenterology
University of California
San Francisco
CA
Disclosures
MB declares that he has no competing interests.
References
Key articles
Phillips JD, Bergonia HA, Reilly CA, et al. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci USA. 2007 Jan;104:5079-84.Full text Abstract
Jalil S, Grady JJ, Lee C, et al. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2010 Mar;8(3):297-302;e1.Full text Abstract
Singal AK. Porphyria cutanea tarda: Recent update. Mol Genet Metab. 2019 Nov;128(3):271-81. Abstract
Handler NS, Handler MZ, Stephany MP, et al. Porphyria cutanea tarda: an intriguing genetic disease and marker. Int J Dermatol. 2017 Jun;56(6):e106-17.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Porfiria variegada (PV)
- Coproporfiria hereditária (CPH)
- Porfiria eritropoética congênita (PEC)
More Differentials
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