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...
Main Authors: | , , , |
---|---|
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 |
id |
doaj-4dddd1403bc94ed49f42423d6744b33c |
---|---|
record_format |
Article |
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 |
work_keys_str_mv |
AT rashmidhital acuteintermittentporphyriaatestofclinicalacumen AT sijanbasnet acuteintermittentporphyriaatestofclinicalacumen AT dillirampoudel acuteintermittentporphyriaatestofclinicalacumen AT khemarajbhusal acuteintermittentporphyriaatestofclinicalacumen |
_version_ |
1725291236993007616 |