acute intermittent porphyria (AIP); Swedish porphyria
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Introduction
Also see porphyria.
Etiology
- numerous drugs can precipitate attacks including:
Epidemiology
- almost never before puberty
Pathology
- pathophysiologically, the disease poses a riddle
- derangement of porphyrin metabolism is confined to the liver which anatomically appears normal
- the pathologic findings are restricted to the nervous system
- circulating neurotoxic metabolite is suspected but has not been identified
- Enzyme deficits include decreases in:
- uroporphyrinogen I synthase (porphobiliogen deaminase)
- aminolevulinic acid dehydratase
Genetics
- autosomal dominant
- associated with defects in uroporphyrinogen I synthase (porphobiliogen deaminase)
Clinical manifestations
- colicky abdominal pain often associated with
- hypertension
- tachycardia
- peripheral neuritis
- behavioral changes
- psychosis
Laboratory
- elevated urinary aminolevulinic acid (ALA)
- elevated urinary porphobilinogen
- red-tinged urine due to porphyrins[5][6]
- hyponatremia (SIADH)
- liver function abnormalities
- transient elevation of bilirubin
- transient elevation of alkaline phosphatase
Complications
- clinical presentation frequently leads to laparotomy
Management
- prognosis
- lifelong disease
- good prognosis if precipitating factors are avoided
- recovery from an acute attack depends upon neuronal injury
- may be rapid 1-2 days if therapy is prompt
- severe motor neuropathy may require months to years for recovery
- 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
- luteinizing hormone-releasing hormone (LHRH) analog for women with attacks linked to menstrual cycle (not FDA approved)
More general terms
Additional terms
- delta-aminolevulinate; 5-aminolevulinic acid; aminolevulinic acid (ALA)
- delta-aminolevulinic acid dehydratase; ALADH; porphobilinogen synthase (ALAD)
- porphobilinogen deaminase; PBG-D; hydroxymethylbilane synthase; HMBS; pre-uroporphyrinogen synthase (HMBS, PBGD, UPS)
- safe & unsafe drugs in acute intermittent porphyria (AIP), variegate porphyria (VP) & hereditary coproporphyria
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
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2154-56
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 179
- ↑ 5.0 5.1 5.2 5.3 Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 Aug 31;377(9):862-872. PMID: https://www.ncbi.nlm.nih.gov/pubmed/28854095 Review. https://www.nejm.org/doi/pdf/10.1056/NEJMra1608634
- ↑ 6.0 6.1 6.2 6.3 NEJM Knowledge+ Hematology