Journal of Postgraduate Medicine
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Year : 2013  |  Volume : 59  |  Issue : 4  |  Page : 338-339  

Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India

RS Jain, K Nagpal, A Vyas 
 Department of Neurology, SMS Medical College, Jaipur, Rajasthan, India

Correspondence Address:
R S Jain
Department of Neurology, SMS Medical College, Jaipur, Rajasthan
India




How to cite this article:
Jain R S, Nagpal K, Vyas A. Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India.J Postgrad Med 2013;59:338-339


How to cite this URL:
Jain R S, Nagpal K, Vyas A. Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India. J Postgrad Med [serial online] 2013 [cited 2021 Apr 17 ];59:338-339
Available from: https://www.jpgmonline.com/text.asp?2013/59/4/338/123185


Full Text

Sir,

We read with great interest the article. 'Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India' by Dosi et al. (2013). [1] We certainly agree with the hurdles that we face regarding the diagnosis and specific treatment of a relatively treatable condition such as acute intermittent porphyria. The prevalence of porphyria is common in the Indian scenario, specifically in certain belts; hence, sensitizing the clinicians regarding the variable presentations is essential.

We also came across two such cases, wherein, chronic progressive neuropathy was seen in two young females, with worsening of neuropathy with every attack. Unusually, both our patients presented with bilateral claw hands [Figure 1]a. Also, as in the case mentioned by the authors, both our patients had dark discoloration of urine during the attacks, with acute abdominal pain, and furthermore, urine for porphobilinogen was positive in both cases. Nerve conduction studies were performed, wherein, one case showed axonal affection, while the other one showed demyelinating affection of both the upper and lower limbs. In our first patient, even a nerve biopsy was performed, which suggested axonal affection [Figure 1]b. The patients were given intravenous glucose and finally the acute attacks spontaneously subsided. Unfortunately, hemin being the most effective treatment was not available even after intensive search.{Figure 1}

The reported patient had spells of altered behavior and confusion, the exact details of which were not mentioned. Details on electroencephalogram to rule out a seizure; and most importantly a detailed history of recent drug intake which might have contributed to precipitating an attack,has not been mentioned in the manuscript.

We certainly appreciate the author's efforts in procuring hemin in India, which is really commendable. However, it took almost two weeks after the initial attack to administer it.

Peripheral neuropathy associated with acute porphyria tends to be progressive, predominantly involving the motor nerves, and is of an axonal type on nerve conduction study (NCS). [2],[3],[4],[5] Muscular weakness can progress to quadriparesis, respiratory paralysis, and arrest, mimicking the Guillain-Barre syndrome. [2] Other mimickers with a similar clinical presentation can be heavy metal, toxin poisoning or botulism. An acute attack can be life-threatening, and further its mimicry with other illnesses may lead physicians astray. However, timely management can be rewarding, especially if hemarginate is instituted early; availability of which, in an Indian setting, is a big hurdle. Non-availability of hemarginate in our setting should not deter clinicians from diagnosing and attempting to procure if for specific treatment.

References

1Dosi RV, Ambaliya AP, Patell RD, Sonune NN. Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India. J Postgrad Med 2013;59:241-2.
2González-Arriaza HL, Bostwick JM. Acute porphyrias: A case report and review. Am J Psychiatry 2003;160:450-9.
3Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ 2000;320:1647-51.
4Wikberg A, Andersson C, Lithner F. Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria. J Intern Med 2000;248:27-32.
5Andersson C, Nilsson A, Bäckström T. Atypical attack of acute intermittent porphyria-paresis but no abdominal pain. J Intern Med 2002;252:265-70.

 
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