hereditary coproporphyria
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Introduction
(Also see porphyria)
Pathology
- acute hepatic porphyria
Genetics
- autosomal dominant
- associated with defects in CPOX
Clinical manifestations
- may be asymptomatic
- may present with mild neurologic, abdominal, or psychiatric symptoms
- skin photosensitivity
- symptoms are generally manifested with rapid onset, & can be precipitated by drugs, alcohol, caloric deprivation, infection, endocrine factors or stress
Laboratory
- urine coproporphyrin III
- overexcretion of coproporphyrin III in the urine
- fecal coproporphyrin III
- overexcretion of coproporphyrin III in feces
- coproporphyrin III is excreted constantly in feces
- urine amino-levulinic acid (ALA)
- amino-levulinic acid (ALA) appears intermittently in urine
- urine porphobilinogen
- porphobilinogen appears intermittently in the urine
Management
- general
- management of acute attacks similar to acute intermittent porphyria (AIP)
- avoid precipitating factors
- pharmaceutical agents
- narcotic analgesics for abdominal pain
- phenothiazines (Compazine) for nausea
- chloral hydrate for insomnia
- low doses of benzodiazepines for anxiety are probably safe
- parenteral nutrition if oral feeding is not possible
- intravenous glucose (300 g/day) had been recommended in the past
- intravenous heme:
- 3-4 mg IV QD for 4 days
- begin as soon as possible after attack
- preparations:
- hematin (Abbott)
- heme albumin
- heme arginate (Leiras Oy, Turka Finland)
- heme albumin & arginate chemically stable & less likely than hematin to produce phlebitis or anticoagulant effect
More general terms
More specific terms
Additional terms
References
- ↑ Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 1012
- ↑ Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 172
- ↑ Williams Hematology, 5th edition, Beutler et al eds, McGraw-Hill, 1995 pg 739.