Acute intermittent porphyria: A non-surgical cause of abdominal pain
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Journal Article Acute intermittent porphyria: A non-surgical cause of abdominal pain Get access C W Pattison, C W Pattison East Birmingham Hospital Correspondence to: C. W. Pattison, 54 High Point, Richmond Hill Road, Edgbaston, Birmingham Search for other works by this author on: Oxford Academic Google Scholar I G Haynes I G Haynes East Birmingham Hospital Search for other works by this author on: Oxford Academic Google Scholar British Journal of Surgery, Volume 69, Issue 9, September 1982, Page 553, https://doi.org/10.1002/bjs.1800690919 Published: 07 December 2005 Article history Accepted: 24 March 1982 Published: 07 December 2005Healthcare providers evaluating patients presenting with neurological, visceral, or cutaneous symptoms that are disproportionate to the expected severity may need to consider porphyria in the differential. Porphyria is an inherited condition in which toxic metabolites of the heme pathway are increased. Carriers of porphyrias are asymptomatic and will not present with classical symptoms, nor will levels be elevated, until the disease is induced by certain drugs, hormones, or idiopathic causes such as the stress of trauma. Acute intermittent porphyria (AIP), a form of acute porphyria, is a rare autosomal dominant disease that results in a dysfunctional porphobilinogen deaminase. This consequently increases neurotoxic porphobilinogen and subsequent increase in δ-aminolevulinic acid. Both of these metabolites cause neurovisceral symptoms that afflict the patient in acute attacks. We present a rare case of AIP manifested in a burn patient suffering a burn injury. The patient presented with symptoms indicative of AIP, including altered mental status and abdominal pain accompanied with a chronic history of alcoholism and smoking. A negative work-up, including imaging and findings of associated manifestations consistent with AIP led to a discovery of elevated porphyrins. The patient's course and death due to his injuries gives insight into the presentation of AIP in a burn patient.
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The porphyrias are a group of rare metabolic disorders, each arising from a predominantly hereditary catalytic dysfunction of one of the eight enzymes in the porphyrin-haem biosynthetic pathway. Acute intermittent porphyria is the commonest type of porphyria worldwide. The disease is more common in women than men. It is therefore important for the obstetricians to know about this entity as many women present with abdominal pain during pregnancy. This case shows that if acute intermittent porphyria is properly treated in a mother there is normal maternal and foetal outcome. A case of acute intermittent porphyria known before pregnancy has been reported in a patient who had three spontaneous abortions in the past, she was delivered by elective caesarean section. The pathogenesis of the disease, its' symptoms, diagnosis, therapeutic approach both during and out of pregnancy have been also discussed.
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The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porphyria may occur in acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Aminolaevulinic acid dehydratase deficiency porphyria (ADP) is a very rare autosomal recessive porphyria; only six cases substantiated by mutation analysis have yet been described in the literature. Urinary porphobilinogen (PBG) is always raised in an acute attack due to AIP, VP or HCP and this analysis is essential to confirm the diagnosis. A positive result in a qualitative or semi-quantitative screening test must be followed by PBG quantitation at the earliest opportunity. However in a severely ill patient, treatment should not be delayed. Removal of precipitating factors, effective analgesia and control of symptoms with safe medication, attention to nutrition and fluid balance are essential. The indications for use of intravenous haem arginate are set out, together with advice on its administration. A small proportion of acute porphyria patients develop recurrent attacks and management options that may be considered include gonadotrophin-releasing hormone analogues, ‘prophylactic’ regular haem arginate infusion or ultimately, liver transplantation.
Porphobilinogen
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Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.
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A patient is described in whom acute intermittent porphyria was diagnosed after 6 months of treatment and five stays in hospital during which the cause of her manifestations was not established. Treatment of the patient and principles of treatment of acute attack of intermittent porphyria are described.
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Penetrance
Asymptomatic carrier
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Porphobilinogen
Photosensitivity
Porphobilinogen deaminase
Porphobilinogen synthase
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A 36-year-old white man had both acute intermittent porphyria and long-standing idiopathic grand mal seizures. Diphenylhydantoin apparently adversely affected both the clinical and biochemical parameters of the acute intermittent porphyria. Comparison of urinary levels of the porphyrin precursors, delta aminolevulinic acid and porphobilinogen, under controlled diet conditions before and after withdrawal of diphenylhydantoin, showed that this drug accounted for approximately one-half of the porphyrin precursor excretion. Significant clinical improvement of the porphyria followed withdrawal of the diphenylhydantoin. Bromides appeared to be approximately as effective as diphenylhydantoin for seizure control in this patient.
Porphobilinogen
Grand mal
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The authors present according to a case of acute intermittent porphyria, diagnostic and therapeutical problems, which are met by physicians in a regional hospital (case 1). Simultaneously the authors present a case of woman with opiate depends syndrome, who has simulated attacks of acute porphyria for the last few years in order to obtain narcotic drugs (case 2).
Narcotic
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Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme synthesis typically present in adulthood most often in women in reproductive age group. Porphyria is relatively an uncommon conditions and it should be consider in patient presenting with a typical medical psychiatric and surgical history. Paucity in clinical recognition of porphyria often leads to misdiagnosis, delay in diagnosis and subsequently treatment. Also, signs and symptoms mimic other medical and surgical conditions. The most common porphyria is acute intermittent porphyria. Awareness of porphyria along with the correct diagnostic tests in porphyria could help a long way to overcome the formidable challenges of porphyric patients. Here is a case of 21 years old woman who present with seizures and abdominal pain treated with antiepileptic drugs initially but later diagnosis as acute intermittent porphyria. This highlights the need for investigation porphyria in patient with acute abdomen psychiatric or neurological symptoms.
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