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BRIEF REPORT
Year : 2010  |  Volume : 58  |  Issue : 1  |  Page : 95-98

Spectrum of emergency department presentation in patients of acute intermittent porphyria: Experience from a North Indian tertiary care center


1 Department of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012, India
2 Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012, India

Date of Acceptance05-Jan-2010
Date of Web Publication8-Mar-2010

Correspondence Address:
Susheel Kumar
Department of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.60410

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 » Abstract 

Of the porphyrias, acute intermittent porphyria (AIP) is the most frequently encountered porphyria. The clinical characterestics of thirteen patients of AIP who presented to the emergency department were analyzed. The most common precipitating factor was drugs. Eleven patients presented with pain abdomen. Neurological manifestations included: Seizures in six and motor weakness in six. Of the four patients with hyponatremia, three had associated neuropathy and the fourth patient demonstrated a severe course marked by pontine-extrapontine myelinolysis and profound adrenergic activity. In conclusion, even though AIP is less frequently reported from India the emergency physicians should be vigilant to exclude the diagnostic possibility of AIP in a patient with an appropriate clinical setting.


Keywords: Acute intermittent porphyria, emergency presentation, hyponatremia


How to cite this article:
Kumar S, Sharma N, Modi M, Sharma A, Mahi S, Varma S. Spectrum of emergency department presentation in patients of acute intermittent porphyria: Experience from a North Indian tertiary care center. Neurol India 2010;58:95-8

How to cite this URL:
Kumar S, Sharma N, Modi M, Sharma A, Mahi S, Varma S. Spectrum of emergency department presentation in patients of acute intermittent porphyria: Experience from a North Indian tertiary care center. Neurol India [serial online] 2010 [cited 2019 Aug 18];58:95-8. Available from: http://www.neurologyindia.com/text.asp?2010/58/1/95/60410



 » Introduction Top


Porphyrias are a group of metabolic disorders associated with generation of excess of porphyrin intermediates or their precursors and acute intermittent porphyria (AIP) is the most frequently encountered porphyria. [1],[2],[3],[4] This study analyzed the presenting features, hospital course, complications and outcome in patients with AIP presenting to the Emergency Department (ED) of a tertiary care hospital.


 » Materials and Methods Top


This study was carried out at the Postgraduate Institute of Medical Education and Research, Chandigarh. Clinical records of all the patients with AIP presented to the ED from January 1996 to March 2008 were reviewed and relevant clinical details were noted in a predesigned instrument. Diagnosis of AIP was based on the characteristic clinical history including pain abdomen, autonomic dysfunction, neuropsychiatric manifestations and urine porphobilinogen (PBG) positivity. [5] Demographic profile, family history, history of previous acute attacks, possible precipitating factors, presenting symptoms and physical findings were recorded. Details of medications responsible for precipitating the acute attacks were noted. Laboratory data included urine PBG test, serum electrolytes, renal and liver function tests. Urine PBG detection was done by Watson-Schwartz test. Findings of the imaging modalities including ultrasonography, contrast enhanced computed tomography (CECT) and magnetic resonance imaging (MRI) were noted. Complications developed during hospital stay and ultimate outcome was also noted.


 » Results Top


During the study period 13 patients (eight male and five female) with AIP presented to ED [Table 1] and [Table 2]. Mean age at the time of presentation was 25.7 ± 14.9 years. Six patients presented with acute attack for the first time while the remaining seven patients had previous history of acute attacks. Most common precipitating factor was drugs (seven patients) [Table 1]. Eleven patients presented with pain abdomen. Three patients had history of passing red-colored urine. Four patients had hypertension at the time of presentation and two of them went on to develop chronic hypertension requiring long-term antihypertensive medications. Six patients had acute seizures during the present attack and one patient had history of seizure eight years back. Seizure type was generalized tonic-clonic seizure (GTCS) in six patients and focal onset tonic-clonic seizure with secondary generalization in one. Five patients were taking gabapentin while two patients were on clonazepam. Seven patients had weakness, five patients had weakness in the form of acute flaccid quadriplegia and two patients had quadriparesis. Electrodiagnostic studies showed evidence of axonal neuropathy in one, axonal polyradiculoneuropathy in three and mixed axonal and demyelinating neuropathy in one. MRI in one patient showed features suggestive of pontine and extrapontine myelinolysis while another patient had acute non-hemorrahgic infarcts in bilateral occipital and parietal areas. Of the four patients with hyponatremia, three were complicated by neuropathy whereas the fourth patient demonstrated a severe course marked by pontine-extrapontine myelinolysis and profound adrenergic activity. One patient with hyponatremia had features of hypertensive emergency. Length of hospital stay ranged from two to 75 days. High- dose dextrose was given to all the patients. Due to the non-availability, heme arginate could not be given. Of the thirteen patients, twelve patients had improvement in their respective symptoms at the time of discharge.


 » Discussion Top


In this series acute attacks of AIP in the majority occurred after puberty and the predominant triggering factor was drugs followed by infections similar to the observations in the earlier series. [3],[4],[6]

In patients with AIP the most common presenting complaint is abdominal pain. [1],[2],[3],[4] Hypertension as a manifestation of autonomic dysfunction is commonly seen during the acute attacks [1],[2],[3],[4],[7],8] and at times the presentation can be a hypertensive emergency. [5],[9],[10] In this series, four patients had hypertension at the time of presentation and one of them was in hypertensive crisis. Hyponatremia has been found to be a marker of severe attack. [5] In this series patient with hyponatremia had more severe disease manifestations. Seizures either focal or generalized occur in 3-15% of patients with AIP. [11],[12] In a study of 268 patients with AIP, seizures occurred in ten (3.7%) patients. [12] The treatment of seizures complicating porphyria is especially difficult because many common antiepileptic drugs are contraindicated in porphyria. Benzodiazepines, especially clonazepam may be beneficial during acute attacks. Gabapentin, vigabratin and leviteracetam have also been found to be safe for the treatment of seizures in patients with AIP. [13],[14],[15],[16],[17] Weakness during acute attack of AIP has been reported in 42-68% of patients. [2] Seven patients (53.8%) had presented with either acute quadriparesis or quadriplegia in our study. Nerve conduction study revealed neuropathy in five patients. In a study, 57% of patients of AIP demonstrated neuropathy but only three patients developed quadriparesis. [5]


 » Conclusion Top


Our study suggests that AIP related emergencies even though rare in India, can present to the ED and the diagnostic possibility of AIP should always be considered in patients with appropriate clinical setting. AIP related emergencies are potentially treatable.

 
 » References Top

1.Desnick RJ. The Porphyrias. In: Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL, editors. Harrison's principles of internal medicine. 16 th ed. McGraw-Hill Press; 2005. p. 2303-8.  Back to cited text no. 1      
2.Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, et al. Recommendations for the diagnosis and treatment of the acute porphyries. Ann Intern Med 2005;142:439-50.  Back to cited text no. 2      
3.Elder GH, Hift RJ, Meissner PN. The acute porphyrias. Lancet 1997;349:1613-7.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]  
4.Kauppinen R. Porpyrias. Lancet 2005;365:241-52.  Back to cited text no. 4  [PUBMED]  [FULLTEXT]  
5.Hift RJ. Meissner PN. An analysis of 112 acute porphyric attacks in Cape-Town, South Africa. Medicine 2005;84:48-60.  Back to cited text no. 5      
6.Liu YP, Lien WC, Fang CC, Lai TI, Chen WJ, Wang HP. ED presentation of acute porphyria. Am J Emerg Med 2005;23:164-7.  Back to cited text no. 6  [PUBMED]  [FULLTEXT]  
7.Andersson C, Lithner F. Hypertension and renal disease in patients with acute intermittent porphyria. J Intern Med 1994;236:169-75.  Back to cited text no. 7  [PUBMED]    
8.Gupta GL, Saksena HC, Gupta BD. Autonomic neuropathy and hypertension in acute intermittent porphyria. J Assoc Physicians India 1983;31:259.  Back to cited text no. 8  [PUBMED]    
9.Bravenboer B, Erkelens DW. Acute hypertension mimicking Pheochromocytoma as main presenting feature of acute intermittent porphyria. Lancet 1989;2:928.  Back to cited text no. 9      
10.Singh V, Sud K, Kohli HS, Gupta KL, Sakhuja V. Acute intermittent porphyria: An unusual cause of malignant hypertension. J Assoc Physicians India 2003;51:225-6.  Back to cited text no. 10  [PUBMED]    
11.Bonkowsky HL, Schady W. Neurologic manifestations of acute intermittent porphyria. Semin Liver Dis 1982;2:108-24.  Back to cited text no. 11  [PUBMED]    
12.Bylesio I, Forsgren L, Lithner F, Boman K. Epidemiology and clinical characteristics of seizures in patients with acute intermittent porphyria. Epilepsia 1996;37:230-5.  Back to cited text no. 12      
13.Zarda M, Grandi R, Erli LC, Mirabile D, Brambilla A. Treatment of seizures in acute intermittent porphyria: Safety and efficacy of gabapentin. Seizure 1998;7:415-6.  Back to cited text no. 13      
14.Zaaterh MM. Levitiracetam in porphyric status epilepticus: A case report. Clin Neuropharmacol 2005;5:243-4.  Back to cited text no. 14      
15.Bilo L, Meo R, Fulvia de leva M. Levetiracetam in idiopathic generalized epilepsy and porphyria cutanea tarda. Clin Drug Investig 2006;26:357-9.  Back to cited text no. 15  [PUBMED]  [FULLTEXT]  
16.Hahan M, Gildemeister OS, Krauss GL, Pepe JA, Lambrecht RW, Donohue S, et al. Effects of new anticonvulsant medications on porphyrin synthesis in cultured liver cells: Potential implications for patients with acute porphyria. Neurology 1997;49:97-106.  Back to cited text no. 16      
17.Bonkowsky HL, Sinclair PR, Emery S, Sinclair JF. Seizure management in acute hepatic porphyria: Risks of valproate and clonazepam. Neurology 1980;30:588-92.  Back to cited text no. 17  [PUBMED]    



 
 
    Tables

  [Table 1], [Table 2]

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