Peripheral neuropathy as initial symptom in porphyria attacks: A case report

Neuropatía periférica como forma de presentación inicial en ataque agudo de porfiria. Reporte de caso clínico

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Sergio Latorre
Jorge Castro
Fernando Mendoza

Abstract

Porphyrias are a group of eight low prevalence disorders of heme metabolism, each characterized by a defect in an enzyme required for the synthesis of heme. Acute intermittent porphyria, affecting 1.5 per 100.000 people per year manifesting with abdominal pain, tachycardia, paresthesia, constipation and vomiting, is one type of porphyria. Porphyric neuropathy is fundamentally motor, symmetrical and often has a proximal predilection.
A case is presented in a female patient in whom acute intermittent porphyria was documented. Her symptoms included peripheral neuropathy, abdominal pain and elevation of transaminases. Her symptoms resolved after receiving treatment.

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References

1. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375:924–37.

2. Siegesmund M, Van Tuyll AM, Poblete P, Frank J. The acute hepatic porphyrias: Current status and future challenges. Best Pract Res Clin Gastroenterol. 2010;24:593–605.

3. Zoubida K, Lyoumi S, Gael N, Deybach JC, Gouya L, Puy H. Porphyrias: A 2015 update. Clin Res Hepatol Gastroenterol. 2015;39:412–25.

4. Herrero-Caballero S. La porfiria: no solo la histeria es una gran simuladora. Psiquiatr Biol. 2014;21:116–8.

5. Gázquez I, Luján K, Chordá R, Touzón C. La porfiria aguda intermitente, un problema diagnóstico. Gastroenterol Hepatol. 2010;33:436–9.

6. Ventura P, Capellini MD, Biocalti G, Guida CC, Rocchi E. A challenging diagnosis for potential fatal diseases: Recomendations for diagnosis acute porphyrias. Eur J. Intern Med. 2014;25:497–505.

7. Mattern SE, Tefferi A. Acute porphyria: the cost of suspicion. Am J Med. 1999;107:621–3.

8. Paz JA, Vergara MI, Romero AA, Rodríguez J. Porfiria intermitente aguda, presentación de un caso en la Fundación Cardio–Infantil, Bogotá. Acta Neurol Colomb. 2004;20: 203–5.

9. Valle ML, Bermúdez JR, González L, Rey M, de la Fuente J. Dolor abdominal y síndrome de secreción inadecuada de la hormona antidiurética, forma de presentación de porfiria aguda intermitente. Rev Clin Esp. 2015;21:349–51.

10. Pérez J, Castro C, Pereira S, Jiménez M, Herrerías JM. Porfiria aguda intermitente subclínica. Etiología inusual de hepatitis crónica. Gastroenterol Hepatol. 2011;34:262–5.

11. Raigal MY, Lledó JL, Raigal JM, Muriel P, Pérez E, Moreno M. Porfiria aguda intermitente y elevación crónica de las transaminasas. Gastroenterol Hepatol. 2008;31:225–8.

12. Waldenström J. Studien über porhyrie. Acta Med Scand. 1937;92:1–24.

13. Latorre G, Muñoz A. Porfiria intermitente aguda, Hospital Universitario San Vicente de Paul (1974-1987). Acta Médica Colombiana. 1988;13:433–51.

14. Aarsand AK, Villanger JH, Støle E, Deybach JC, Marsden J, To-Figueras J, et al. European specialist porphyria laboratories: Diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program. Clin Chem. 2011;57: 1514–23.

15. Herrero C, Badenas C, Aguilera, To-Figueras J. Porfiria aguda intermitente: seguimiento a largo término de 35 pacientes. Med Clin (Barc). 2015;154:332–7.

16. León E, Fuentes W, Richarz NA, Villegas ML, Oussedik L, Armario P. Porfiria aguda intermitente: la hipertensión arterial como signo guía. Hipertens Riesgo Vas. 2012;29:106–8.

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