Cover Image

A CASE OF ACUTE INTERMITTENT PORPHYRIA

VINOTH KUMAR

Abstract


Acute Intermittent Porphyria (AIP) is a
rare hereditary disorder of heme metabolism,
characterised by episodes of gastrointestinal,
psychiatric, or neurologic
symptoms.We report a case of young
female presenting with recurrent attacks
of abdominal pain with seizures and peripheral
motor neuropathy.The diagnosis
of acute intermittent porphyria was confirmed
by the presence of urine porphobilinogen
and patient recovered with supportive
therapy.


Full Text:

PDF

References


Crimlisk HL: The little imitator—

porphyria: a neuropsychiatric disorder. J

Neurol Neurosurg Psychiatry 1997;

:319–328.

Acute Porphyrias: A Case Report and

Review Heydy L. González-Arriaza, M.D.

J. Michael Bostwick, M.D. Am J Psychiatry

:3, March 2003.

Harrisons Principles of Internal

Medicine,18th edition.

Anderson KE, Bloomer JR,

Bonkovsky HL, Kushner JP, Pierach

CA, Pimstone NR, Desnick RJ. Recommendations

for the diagnosis and

treatment of the acute porphyrias.

Ann Intern Med. 2005;142(6):439-

Erratum in: Ann Intern Med.

;143(4):316.

American Porphyria Foundation.

Drugs and porphyria. Drugs considered

unsafe and safe in acute porphyrias

[Internet]. Houston: American

Porphyria Foundtion;2007.

Hift RJ, Meissner PN, Kirsch RE:

The clinical diagnosis, prevention

and management of the hepatic porphyrias.

Trop Gastroenterol 1997;

:41.

Windebank AJ, Bonkovsky HL.

Porphyric neuropathy. In: Dyck PJ,

Thomas PK, editors. Peripheral

Neuropathy. Philadelphia: Elsevier

Saunders; 2005. p. 1883–92.

Becker, D. M. and Kramer, S.:

The neurological manifestations of

porphyria A review . Medicine,56:

-423, 1977.

Bonkowsky HL, Sinclair PR, Emery

S, Sinclair JF. Seizure management

in acute hepatic porphyria.

Neurology 1980;30:588.

Bylesjo I, Forsgren L, Lithner F,

Boman K. Epidemiology and clinical

characteristics of seizures in patients

with acute intermittent porphyria.

Epilepsia 1996;37:230–235.

Adel A Al Jishi, Sreekantaswamy. Fatal

neurological complications of acute

intermittent porphyria. Bahrain Med Bull

;26:67–69.

Flugel KA, Druschky KF. Electromyogram

and nerve conduction in patients

with acute intermittent porphyria. J Neurol

;214:267–79.

Albers JW, Robertson Jr WC, Daube

JR. Electrodiagnostic findings in acute

porphyric neuropathy. Muscle Nerve

;1:292–6.

Ashawesh K, Jones MK. Acute intermittent

porphyria associated with inappropriate

ADH secretion in a hyperthyroid

patient. Internet J Endocrinol

;2.

An analysis of 6 cases of acute intermi

t t e n t p o r p h y r i a . S o u m i t r a

ghosh,Hiranya k Swamy Indian J Psychiatry

;48:189-192.

Church SE, McColl KE, Moore MR,

Youngs GR. Hypertension and renal impairment

as complications of acute porphyria.

Nephrol Dial Transplant. 1992;7

(10):986-90.

Lithner F, Wetterberg L. Hepatocellular

carcinoma in patients with acute intermittent

porphyria. Acta Med

Scand.1984;215(3):271-4.

Thadani H, Deacon A, Peters T: Diagnosis

and management of porphyria. Br

Med J 2000; 320:1647–1651.

Yoo HW, Warner CA, Chen CH, Desnick

RJ. Hydroxymethylbilane synthase:

complete genomic sequence

and amplifiable polymorphisms in the

human gene. Genomics 1993;15:21–

Watson CJ. Hematin and porphyria.

N Engl J Med 1975;293:605–7.

Beaune G, Deybach JC , Puy H,

Sirodot M.Intermittent acute porphyria

: a metabolic emergency. Gastroenterol

Clin Biol. 2009; 33: 207-9.

Morris, DL, Dudle y, MD, Pearson,

R D. Coagulopathy associated

with hematin treatment for acute intermittent

porphyria . Ann Intern Med

; 95:700.

Acute Intermittent Porphyria in a

Kumhar Community of Western Rajasthan

R Sachdev, KR Haldiya, AK

Dixit. JAPI • VOL. 53 • FEBRUARY


Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An initiative of The Tamil Nadu Dr M.G.R. Medical University