Acute intermittent porphyria: a test of clinical acumen

Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute...

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Main Authors: Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal
Format: Article
Language:English
Published: Taylor & Francis Group 2017-04-01
Series:Journal of Community Hospital Internal Medicine Perspectives
Subjects:
Online Access:http://dx.doi.org/10.1080/20009666.2017.1317535
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spelling doaj-4dddd1403bc94ed49f42423d6744b33c2020-11-25T00:40:16ZengTaylor & Francis GroupJournal of Community Hospital Internal Medicine Perspectives2000-96662017-04-017210010210.1080/20009666.2017.13175351317535Acute intermittent porphyria: a test of clinical acumenRashmi Dhital0Sijan Basnet1Dilli Ram Poudel2Khema Raj Bhusal3Universal College Of Medical SciencesReading Health SystemReading Health SystemManmohan Memorial Medical CollegeAcute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care. He improved after infusion of intravenous dextrose. AIP can mimic many common surgical and medical conditions such as appendicitis, cholecystitis, pancreatitis, etc., and may lead to extensive diagnostics or surgical intervention if missed. Diagnosis of AIP requires high clinical suspicion. It should be considered in a patient with recurrent abdominal symptoms, intractable hyponatremia, along with neurological manifestations. Early diagnosis and treatment can prevent recurrent episodes and can potentially be lifesaving. Abbreviations: AIP: Acute intermittent porphyria; ALA: Aminolevulinic acid; PBG: Porphobilinogenhttp://dx.doi.org/10.1080/20009666.2017.1317535Acute intermittent porphyriaporphyriaclinical acumen
collection DOAJ
language English
format Article
sources DOAJ
author Rashmi Dhital
Sijan Basnet
Dilli Ram Poudel
Khema Raj Bhusal
spellingShingle Rashmi Dhital
Sijan Basnet
Dilli Ram Poudel
Khema Raj Bhusal
Acute intermittent porphyria: a test of clinical acumen
Journal of Community Hospital Internal Medicine Perspectives
Acute intermittent porphyria
porphyria
clinical acumen
author_facet Rashmi Dhital
Sijan Basnet
Dilli Ram Poudel
Khema Raj Bhusal
author_sort Rashmi Dhital
title Acute intermittent porphyria: a test of clinical acumen
title_short Acute intermittent porphyria: a test of clinical acumen
title_full Acute intermittent porphyria: a test of clinical acumen
title_fullStr Acute intermittent porphyria: a test of clinical acumen
title_full_unstemmed Acute intermittent porphyria: a test of clinical acumen
title_sort acute intermittent porphyria: a test of clinical acumen
publisher Taylor & Francis Group
series Journal of Community Hospital Internal Medicine Perspectives
issn 2000-9666
publishDate 2017-04-01
description Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute attack, and many extrinsic factors play a role. Diagnostic tests are defined, but clinical suspicion is often delayed as symptoms mimic other common conditions. We report a case of a 18-year-old male with severe, persistent, and generalized abdominal pain along with marked hyponatremia, with subsequent development of altered mentation needing intensive care. He improved after infusion of intravenous dextrose. AIP can mimic many common surgical and medical conditions such as appendicitis, cholecystitis, pancreatitis, etc., and may lead to extensive diagnostics or surgical intervention if missed. Diagnosis of AIP requires high clinical suspicion. It should be considered in a patient with recurrent abdominal symptoms, intractable hyponatremia, along with neurological manifestations. Early diagnosis and treatment can prevent recurrent episodes and can potentially be lifesaving. Abbreviations: AIP: Acute intermittent porphyria; ALA: Aminolevulinic acid; PBG: Porphobilinogen
topic Acute intermittent porphyria
porphyria
clinical acumen
url http://dx.doi.org/10.1080/20009666.2017.1317535
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AT sijanbasnet acuteintermittentporphyriaatestofclinicalacumen
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AT khemarajbhusal acuteintermittentporphyriaatestofclinicalacumen
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