Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico

Acute porphyrias: unspecific manifestations and specific therapeutic management

Contenido principal del artículo

José Julián Mejía
Gilberto Jaramillo Trujillo
Luis Fernando Gómez
María Andrea Jaramillo
Dayana Milena Caballero Tovar

Resumen

Revisión clínica, científica, teórica y documental teniendo como objetivo principal realizar una revisión sobre la porfiria aguda, su enfoque, diagnóstico y tratamiento. Se utilizó una metodología descriptiva, cualitativa y teórica que permitió la revisión bibliográfica de los estudios relacionados con la porfiria aguda, trastorno congénito poco frecuente que causa alteraciones en las enzimas de la biosíntesis del grupo hem. La importancia de esta patología radica en que se confunde con otras enfermedades debido al cuadro clínico complejo difícil de identificar, lo que ocasiona un diagnóstico tardío que puede comprometer la vida del paciente y por ello se conoce como enfermedad silenciosa. Como conclusión se recomienda mayor atención a los factores precipitantes de los ataques agudos por la elevada morbimortalidad, así como hacer un diagnóstico rápido y oportuno por medios cualitativos y cuantitativos solicitando PBG (porfobilinógeno) y ALA (ácido delta aminolevulínico).

Palabras clave:

Descargas

Los datos de descargas todavía no están disponibles.

Detalles del artículo

Referencias

Bonkovsky HL, Guo JT, Hou W, Li T, Narang T, Thapar M. Porphyrin and heme metabolism and the porphyrias. Compr Physiol. 2013;3(1):365-401.

Bissell DM, Wang B. Acute Hepatic Porphyria. J Clin Transl Hepatol. 2015;3(1):17-26. doi: 10.14218/JCTH.2014.00039

Bonkovsky HL, Cable EE, Cable JW, Donohue SE, White EC, Greene YJ, et al. Porphyrogenic properties of the terpenes camphor, pinene, and thujone (with a note on historic implications for absinthe and the illness of Vincent van Gogh). Biochem Pharmacol. 1992;43(11):2359-68. doi: 10.1016/0006-2952(92)90314-9.

Winkler MG, Anderson KE. Vampires, porphyria, and the media: medicalization of a myth. Perspect Biol Med. 1990;33(4):598-611.

Siegesmund M, van Tuyll van Serooskerken AM, Poblete-Gutierrez P, Frank J. The acute hepatic porphyrias: current status and future challenges. Best Pract Res Clin Gastroenterol. 2010;24(5):593-605. doi: 10.1016/j.bpg.2010.08.010

Besur S, Schmeltzer P, Bonkovsky HL. Acute Porphyrias. J Emerg Med. 2015;49(3):305-12. doi: 10.1016/j.jemermed.2015.04.034

Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet. 1996;13(1):95-7. doi: 10.1038/ng0596-95

Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375(9718):924-37.

Fuller S, Wiley J. Heme Biosynthesis and Its Disorders: Porphyrias and Sideroblastic Anemias. In: John Anastasi LS, editor. Hematology: Basic Principles and Practice. Livingstone: Elsevier; 2013. p. 457-72.e5.

Chiabrando D, Mercurio S, Tolosano E. Heme and erythropoieis: more than a structural role. Haematologica. 2014;99(6):973-83. doi: 10.3324/haematol.2013.091991

Furuyama K, Sassa S. Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. J Clin Invest. 2000;105(6):757-64. doi: 10.1172/JCI6816

Shaw GC, Cope JJ, Li L, Corson K, Hersey C, Ackermann GE, et al. Mitoferrin is essential for erythroid iron assimilation. Nature. 2006;440(7080):96-100. doi: 10.1038/nature04512

Sassa S. Hematologic aspects of the porphyrias. Int J Hematol. 2000;71(1):1-17.

Besur S, Hou W, Schmeltzer P, Bonkovsky HL. Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites. 2014;4(4):977-1006. doi: 10.3390/metabo4040977

Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015;8:201-14. doi: 10.2147/TACG.S48605

Simon NG, Herkes GK. The neurologic manifestations of the acute porphyrias. J Clin Neurosci: official journal of the Neurosurgical Society of Australasia. 2011;18(9):1147-53. doi: 10.1016/j.jocn.2011.01.003

Hermes-Lima M, Castilho RF, Valle VG, Bechara EJ, Vercesi AE. Calcium-dependent mitochondrial oxidative damage promoted by 5-aminolevulinic acid. Biochim Biophys Acta. 1992;1180(2):201-6. doi: 10.1016/0925-4439(92)90069-y

Felitsyn N, McLeod C, Shroads AL, Stacpoole PW, Notterpek L. The heme precursor delta-aminolevulinate blocks peripheral myelin formation. J Neurochem. 2008;106(5):2068-79. doi: 10.1111/j.1471-4159.2008.05552.x.

Percy VA, Shanley BC. Studies on haem biosynthesis in rat brain. J Neurochem. 1979;33(6):1267-74. doi: 10.1111/j.1471-4159.1979.tb05273.x

Lin CS, Krishnan AV, Lee MJ, Zagami AS, You HL, Yang CC, et al. Nerve function and dysfunction in acute intermittent porphyria. Brain : a journal of neurology. 2008;131(Pt 9):2510-9. doi: 10.1093/brain/awn152.

Horn S, Quasthoff S, Grafe P, Bostock H, Renner R, Schrank B. Abnormal axonal inward rectification in diabetic neuropathy. Muscle Nerve. 1996;19(10):1268-75. doi: 10.1002/mus.880191002

Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. Medicine (Baltimore). 1992;71(1):1-13.

Herrick AL, McColl KEL. Acute intermittent porphyria. Best practice & research Clinical gastroenterology. 2005;19(2):235-49. doi: 10.1016/j.bpg.2004.10.006

Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012;120(23):4496-504. doi: 10.1182/blood-2012-05-423186

Hasanoglu A, Balwani M, Kasapkara CS, Ezgu FS, Okur I, Tumer L, et al. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. J Inherit Metab Dis. 2011;34(1):225-31. doi: 10.1007/s10545-010-9237-9.

Ventura P, Cappellini MD, Biolcati G, Guida CC, Rocchi E. A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias. Eur J Intern Med. 2014;25(6):497-505. doi: 10.1016/j.ejim.2014.03.011

Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005;142(6):439-50. doi: 10.7326/0003-4819-142-6-200503150-00010

Elder GH, Hift RJ, Meissner PN. The acute porphyrias. Lancet. 1997;349(9065):1613-7. doi: 10.1016/S0140-6736(96)09070-8

Hift RJ, Peters TJ, Meissner PN. A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady'. J Clin Pathol. 2012;65(3):200-5. doi: 10.1136/jclinpath-2011-200276

Sassa S. ALAD porphyria. Semin Liver Dis. 1998;18(1):95-101. doi: 10.1055/s-2007-1007145

Herman DS, Geraldine M, Venkatesh T. Evaluation, diagnosis, and treatment of lead poisoning in a patient with occupational lead exposure: a case presentation. J Occup Med Toxicol. 2007;2:7. doi: 10.1186/1745-6673-2-7

Bonkovsky HL. Neurovisceral porphyrias: what a hematologist needs to know. Hematology American Society of Hematology Education Program. 2005:24-30. doi: 10.1182/asheducation-2005.1.24

Pischik E, Kauppinen R. Neurological manifestations of acute intermittent porphyria. Cell Mol Biol (Noisy-le-grand). 2009;55(1):72-83.

Crimlisk HL. The little imitator--porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry. 1997;62(4):319-28. doi: 10.1136/jnnp.62.4.319

Hindmarsh JT. The porphyrias, appropriate test selection. Clinica chimica acta; international journal of clinical chemistry. 2003;333(2):203-7. doi: 10.1016/s0009-8981(03)00187-6

Guilard R, Kadish K, Smith K. The Porphyrin Handbook: Elsevier; 2003.

Elder GH, Hift RJ. Treatment of acute porphyria. Hosp Med. 2001;62(7):422-5.

Disler PB, Eales L. The acute attack of porphyria. S Afr Med J = Suid-Afrikaanse tydskrif vir geneeskunde. 1982;61(3):82-4.

Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H. Porphyrias: A 2015 update. Clin Res Hepatol Gastroenterol. 2015;39(4):412-25. doi: 10.1016/j.clinre.2015.05.009

Lai CK, Lam CW, Chan YW. High-performance thin-layer chromatography of free porphyrins for diagnosis of porphyria. Clin Chem. 1994;40(11 Pt 1):2026-9.

Sardh E, Andersson DE, Henrichson A, Harper P. Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes. Cell Mol Biol (Noisy-le-grand). 2009;55(1):66-71.

With TK. Simple and rapid screening for acute porphyria--'porphobilistix' and Hoesch test. S Afr Med J. = Suid-Afrikaanse tydskrif vir geneeskunde. 1971:229-30.

Deacon AC, Peters TJ. Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. Ann Clin Biochem. 1998;35 ( Pt 6):726-32. doi: 10.1177/000456329803500604

McEwen J, Paterson C. Drugs and false-positive screening tests for porphyria. Br Med J. 1972;1(5797):421. doi: 10.1136/bmj.1.5797.421

Frith D, Yeung K, Thrush S, Hunt BJ, Hubbard JG. Lead poisoning--a differential diagnosis for abdominal pain. Lancet. 2005;366(9503):2146. doi: 10.1016/S0140-6736(05)67893-2

Akagi R, Inoue R, Muranaka S, Tahara T, Taketani S, Anderson KE, et al. Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. British journal of haematology. 2006;132(2):237-43. doi: 10.1111/j.1365-2141.2005.05852.x

De Rooij F, Edixhoven A, P. Wilson JH. Porphyria: A Diagnostic Approach. In: Kadish KM, Smith KM, Guilard R, editors. The Porphyrin Handbook: Elsevier; 2003. p. 93.

Sardh E, Harper P, Andersson DE, Floderus Y. Plasma porphobilinogen as a sensitive biomarker to monitor the clinical and therapeutic course of acute intermittent porphyria attacks. Eur J Intern Med. 2009;20(2):201-7. doi: 10.1016/j.ejim.2008.06.012

Erlandsen EJ, Jorgensen PE, Markussen S, Brock A. Determination of porphobilinogen deaminase activity in human erythrocytes: pertinent factors in obtaining optimal conditions for measurements. Scand J Clin Lab Invest. 2000;60(7):627-34.

Di Pierro E, Brancaleoni V, Besana V, Cappellini MD. Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria. J Hum Genet. 2009;54(8):479-87. doi: 10.1038/jhg.2009.67.

De Siervi A, Varela LS, Parera VE, Batlle AM, Rossetti MV. Diagnosis of latent acute intermittent porphyria by genetic analysis. Ann Clin Biochem. 2001;38(Pt 2):149-52. doi: 10.1258/0004563011900344

Mustajoki P, Nordmann Y. Early administration of heme arginate for acute porphyric attacks. Arch Intern Med. 1993;153(17):2004-8.

Chemmanur AT, Bonkovsky HL. Hepatic porphyrias: diagnosis and management. Clin Liver Dis. 2004;8(4):807-38, viii. doi: 10.1016/j.cld.2004.07.001

Desnick RJ, Balwani M. The Porphyrias. In: Kasper D, Fauci A, Hauser S, Longo D, Jameson JL, Loscalzo J, editors. Harrison's Principles of Internal Medicine. 19 ed: McGraw-Hill; 2015.

Marsden JT, Guppy S, Stein P, Cox TM, Badminton M, Gardiner T, et al. Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. JIMD Rep. 2015;22:57-65. doi: 10.1007/8904_2015_411

Stein P, Badminton M, Barth J, Rees D, Stewart MF. Best practice guidelines on clinical management of acute attacks of porphyria and their complications. Ann Clin Biochem. 2013;50(Pt 3):217-23. doi: 10.1177/0004563212474555

Jones SR, Bell A, Brink G. Treatment of acute intermittent porphyria in the emergency department. J Emerg Nurs: JEN : official publication of the Emergency Department Nurses Association. 2014;40(3):257-9; quiz 92-3. doi: 10.1016/j.jen.2013.11.014

López O, Lemus E. Porfiria intermitente aguda: presentación de un caso y revisión de la literatura. Acta Colombiana de Cuidado Intensivo 2008;8(2):110-5.

González W, Hernán Rodríguez J. Manejo médico y farmacológico del estatus epiléptico. Acta Neurológica Colombiana. 2011;27:39-46.

Mehta M, Rath GP, Padhy UP, Marda M, Mahajan C, Dash HH. Intensive care management of patients with acute intermittent porphyria: Clinical report of four cases and review of literature. Indian journal of critical care medicine : peer-reviewed, official publication of Indian J Crit Care Med. 2010;14(2):88-91. doi: 10.4103/0972-5229.68222

Harrison JC, McAuley FT. Propofol for sedation in intensive care in a patient with an acute porphyric attack. Anaesthesia. 1992;47(4):355-6. doi: 10.1111/j.1365-2044.1992.tb02186.x

Pandey CK, Singh N, Bose N, Sahay S. Gabapentin and propofol for treatment of status epilepticus in acute intermittent porphyria. J Postgrad Med. 2003;49(3):285.

Yandel ML, Watters MR. Treatment of complex partial status epilepticus unmasking acute intermittent porphyria in a patient with resected anaplastic glioma. Clin Neurol Neurosurg. 1995;97(3):261-3.

Zaatreh MM. Levetiracetam in porphyric status epilepticus: a case report. Clin Neuropharmacol. 2005;28(5):243-4.

Robert TL, Varella L, Meguid MM. Nutrition management of acute intermittent porphyria. Nutrition. 1994;10(6):551-5; quiz 6-7.

Bonkovsky HL, Healey JF, Lourie AN, Gerron GG. Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. Am J Gastroenterol. 1991;86(8):1050-6.

Anderson KE, Bonkovsky HL, Bloomer JR, Shedlofsky SI. Reconstitution of hematin for intravenous infusion. Ann of Intern Med. 2006;144(7):537-8. doi: 10.7326/0003-4819-144-7-200604040-00023

Mendenhall DW. Instability of hematin solutions. N Engl J Med. 1984;311(8):539. doi: 10.1056/NEJM198408233110819

Goetsch CA, Bissell DM. Instability of hematin used in the treatment of acute hepatic porphyria. N Engl J Med. 1986;315(4):235-8. doi: 10.1056/NEJM198607243150406

Badminton MN, Deybach JC. Treatment of an acute attack of porphyria during pregnancy. Eur J Neurol. 2006;13(6):668-9. doi: 10.1111/j.1468-1331.2006.01238.x

Pischik E, Kauppinen R. Can pregnancy stop cyclical attacks of porphyria?. Am J Med. 2006;119(1):88-90.

Tenhunen R, Mustajoki P. Acute porphyria: treatment with heme. Seminars in liver disease. 1998;18(1):53-5. doi: 10.1016/j.amjmed.2005.08.032

Sardh E, Rejkjaer L, Andersson DE, Harper P. Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. Clin Pharmacokinet. 2007;46(4):335-49. doi: 10.2165/00003088-200746040-00006

Jeans JB, Savik K, Gross CR, Weimer MK, Bossenmaier IC, Pierach CA, et al. Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series. Am J Med Genet. 1996;65(4):269-73. doi: 10.1002/(SICI)1096-8628(19961111)65:4<269::AID-AJMG4>3.0.CO;2-K

Andant C, Puy H, Bogard C, Faivre J, Soule JC, Nordmann Y, et al. Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. J Hepatol. 2000;32(6):933-9.

Contadores