Summary
Definition
History and exam
Other diagnostic factors
- skin hyperpigmentation
- hypertrichosis
- scarring alopecia
- red urine
Risk factors
- males, middle age, white
- alcohol use
- smoking
- oestrogen use
- hepatitis C
- HIV
- hereditary haemochromatosis gene (HFE) mutation
- uroporphyrinogen decarboxylase (UROD) mutations
- exposure to halogenated polycyclic aromatic hydrocarbons
- reduced levels of antioxidants
- end-stage renal disease
- diabetes mellitus
Diagnostic investigations
1st investigations to order
- plasma total porphyrins
- plasma fluorescence emission
- urinary total porphyrins
- erythrocyte total porphyrins
Investigations to consider
- fractionation of plasma porphyrins by HPLC
- fractionation of urinary porphyrins by HPLC
- erythrocyte uroporphyrinogen decarboxylase (UROD) activity
- faecal porphyrins
- DNA studies
- LFTs
- serum ferritin
- liver biopsy
- skin biopsy
- serum HIV enzyme-linked immunosorbent assay
- serum hepatitis C surface antibodies
- creatinine
- urea
- haematocrit
- haemoglobin
Treatment algorithm
Contributors
Authors VIEW ALL
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.
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.
Peer reviewers VIEW ALL
Consultant Dermatologist
Honorary Clinical Senior Lecturer
Department of Dermatology
Ninewells Hospital & Medical School
Dundee
UK
Disclosures
RSD declares that he has no competing interests.
Professor of Medicine (Dermatology)
University of Louisville
Louisville
KY
Disclosures
JPC declares that he has no competing interests.
Professor and Chief
Gastroenterology
University of California
San Francisco
CA
Disclosures
MB declares that he has no competing interests.
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