Acute intermittent porphyria presenting as spontaneous hemothorax
Keywords:
hemothorax, porphyria, acute intermittent, abdomen, acute, abdominal pain, porphobilinogen, hydroxymethylbilane synthase
Abstract
The porphyrias are inherited disorders of the heme biosynthetic pathway. They are relatively rare and often misdiagnosed; however, acute episodes can be curtailed by early administration of heme arginate. Acute intermittent porphyria is the commonest of acute forms of porphyria. Here, a case is presented of a 23-year-old male with acute intermittent porphyria who came to the emergency clinic with an unexplained abdominal pain. In addition, he exhibited spontaneous hemothorax (two liters of blood accumulated in the chest) as an unusual manifestation of the disease. The most relevant aspects of acute intermittent porphyria are discussed, along with its epidemiology, diagnosis, clinical presentation and treatment. Complexities and diagnostic requirements in making a diagnosis of porphyria are described.Downloads
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References
1. DeLoughery TG. Porphyria, acute intermittent. Fecha de consulta: marzo del 2008. Disponible en:http://www.emedicine.com/med/topic1880.htm
2. De Siervi A, Méndez M, Varela L, Rossetti MV, Parera V, Batlle A. Estudios genéticos de las porfirias agudas en Argentina. Acta Bioquím Clin Latinoam. 2002;36:505-13.
3. Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ. 2000;320:1647-51.
4. Kappas A, Sassa S, Galbraith RA, Nardaman Y. The porphyries. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited diseases. 6th edition. New York: McGraw- Hill; 1989. p. 1305-66.
5. McColl KE, Dover S, Fitzsimons E, Moore MR. Porphyrin metabolism and the porphyries. In: Weatherall DJ, Ledingham JC, Warrell DA, editors. Oxford Textbook of Medicine. Oxford: Oxford University Press; 1996. p. 1388-99.
6. Monterio H, Bechara EJH, Abdalla DS. Free radicals involvement in neurological porphyrias and lead poisoning. Mol Cell Biochem. 1991;103:73-84.
7. Bonkovsky HL. Advances in understanding and treating “the little imitador”, acute porphyria. Gastroenterology.1993;105:590-4.
8. Lindberg RL, Parcher C, Grandchamp B. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet.1996;12:195-9.
9. Hahn M, Gildemeister OS, Krauss GL, Pepe JA, Lambrecht RW, Donohue S, et al. Effects of new anticonvulsants medications on porphyrin in cultured liver cells: potential implications for patients with acute porphyria. Neurology.1997;49:97-106.
10. Sassa S. Understanding the porphyries. Fecha de consulta: 10 de noviembre de 2008. Disponible en: http://www.uptodate.com/patients/content/topic.do?topicKey=~E4oMR6..hWichZE
2. De Siervi A, Méndez M, Varela L, Rossetti MV, Parera V, Batlle A. Estudios genéticos de las porfirias agudas en Argentina. Acta Bioquím Clin Latinoam. 2002;36:505-13.
3. Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ. 2000;320:1647-51.
4. Kappas A, Sassa S, Galbraith RA, Nardaman Y. The porphyries. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited diseases. 6th edition. New York: McGraw- Hill; 1989. p. 1305-66.
5. McColl KE, Dover S, Fitzsimons E, Moore MR. Porphyrin metabolism and the porphyries. In: Weatherall DJ, Ledingham JC, Warrell DA, editors. Oxford Textbook of Medicine. Oxford: Oxford University Press; 1996. p. 1388-99.
6. Monterio H, Bechara EJH, Abdalla DS. Free radicals involvement in neurological porphyrias and lead poisoning. Mol Cell Biochem. 1991;103:73-84.
7. Bonkovsky HL. Advances in understanding and treating “the little imitador”, acute porphyria. Gastroenterology.1993;105:590-4.
8. Lindberg RL, Parcher C, Grandchamp B. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet.1996;12:195-9.
9. Hahn M, Gildemeister OS, Krauss GL, Pepe JA, Lambrecht RW, Donohue S, et al. Effects of new anticonvulsants medications on porphyrin in cultured liver cells: potential implications for patients with acute porphyria. Neurology.1997;49:97-106.
10. Sassa S. Understanding the porphyries. Fecha de consulta: 10 de noviembre de 2008. Disponible en: http://www.uptodate.com/patients/content/topic.do?topicKey=~E4oMR6..hWichZE
How to Cite
1.
Buitrago J, Santa SV. Acute intermittent porphyria presenting as spontaneous hemothorax. biomedica [Internet]. 2009 Sep. 1 [cited 2024 May 17];29(3):339-47. Available from: https://revistabiomedica.org/index.php/biomedica/article/view/4
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