Porfiri ve Karın Ağrısı
Özet
Acil serviste, nedeni açıklanamayan şiddetli karın ağrısı, hekimler için genellikle tanı koymayı zorlaştırır. Bu karmaşık tablo içinde, gözden kaçma riski yüksek olan nadir metabolik hastalıklardan biri de akut hepatik porfirilerdir. Hem sentezindeki enzimatik defekt sonucu oluşur ve toksik ara ürün birikir. Bu durum nörovisseral ataklara sebep olur. Bu bölüm, özellikle fizik muayene bulgularıyla uyumsuzluk gösteren karın ağrısı olan hastalarda, porfiri atağının ayırıcı tanıda nasıl değerlendirilmesi gerektiğini ele almakta; spot idrarda porfobilinojen testinin önemini, tetikleyici faktörlerin acilen ortadan kaldırılmasını ve tedavinin temel taşları olan hem arginat/hematin ile karbonhidrat yüklemesinin acil yaklaşımdaki hayati rolünü vurgulamaktadır. Nörolojik komplikasyon riski nedeniyle yakın monitorizasyonun ve hastane yatışının gerekliliği üzerinde durularak, kanıta dayalı, uygulanabilir bir klinik bakış açısı sunmaktadır.
In the emergency department, severe abdominal pain with no apparent cause often makes it difficult for doctors to diagnose. Among the rare metabolic disorders that are easily overlooked in this complex scenario is acute hepatic porphyria. An enzymatic defect in heme synthesis leads to the accumulation of toxic intermediate products, resulting in neurovisceral attacks. This section addresses how a porphyria attack should be evaluated in the differential diagnosis, particularly in patients with abdominal pain that is inconsistent with physical examination findings; emphasizes the importance of the porphobilinogen test in spot urine, the urgent elimination of triggering factors, and the vital role of the cornerstones of treatment, arginate/hematin and carbohydrate loading, in the emergency approach. It stresses the necessity of close monitoring and hospitalization due to the risk of neurological complications, offering an evidence-based, practical clinical perspective.
Referanslar
Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375(9718): 924-937. doi:10.1016/S0140-6736(09)61925-5.
Phillips JD. Heme biosynthesis and the porphyrias. Molecular Genetics and Metabolism. 2019;128(3): 164-177. doi:10.1016/j.ymgme.2019.04.008.
Bonkovsky HL, Maddukuri VC, Yazici C, et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. The American Journal of Medicine. 2014;127(12): 1233-1241. doi:10.1016/j.amjmed.2014.06.036.
Balwani M, Bloomer J, Desnick R. Erythropoietic Protoporphyria, Autosomal Recessive. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. 2012 Sep 27 [Updated 2017 Sep 7]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK100826/
Dhital R, Basnet S, Poudel DR, et al. Acute intermittent porphyria: a test of clinical acumen. Journal of Community Hospital Internal Medicine Perspectives. 2017;7(2): 100-102. doi:10.1080/20009666.2017.1317535.
Hooda AK, Madan H, Harneja HS, et al. INTERMITTENT ACUTE PORPHYRIA: A Report of Three Cases. Medical Journal Armed Forces India. 1996;52(1): 57-59. doi:10.1016/S0377-1237(17)30838-9.
Gounden V, Jialal I. Acute Porphyria. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan. [Updated 2023 Jul 17]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537352/
Indika NLR, Kesavan T, Dilanthi HW, et al. Many pitfalls in diagnosis of acute intermittent porphyria: a case report. BMC Research Notes. 2018;11(1): 552. doi:10.1186/s13104-018-3615-z.
Edel Y, Mamet R. Porphyria: What Is It and Who Should Be Evaluated? Rambam Maimonides Medical Journal. 2018;9(2): e0013. doi:10.5041/RMMJ.10333.
Wang Q, Zhuang Jl, Han B, et al. Drug-associated porphyria: a pharmacovigilance study. Orphanet Journal of Rare Diseases. 2024;19: 286. https://doi.org/10.1186/s13023-024-03294-8
Sardh E, Barbaro M. Acute Intermittent Porphyria. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. 2005 Sep 27 [Updated 2024 Feb 8]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1193/
Lamon J, With TK, Redeker AG. The Hoesch test: bedside screening for urinary porphobilinogen in patients with suspected porphyria. Clinical Chemistry. 1974;20(11): 1438-1440.
Mohan G, Madan A. ALA Dehydratase Deficiency Porphyria. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan. [Updated 2023 Jul 3]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560836/
Wang B, Bonkovsky HL, Lim JK, et al. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. Gastroenterology. 2023;164(3): 484-491. doi:10.1053/j.gastro.2022.11.034.
Zhao L, Wang X, Zhang X, et al. Therapeutic strategies for acute intermittent porphyria. Intractable & Rare Diseases Research. 2020;9(4): 205-216. doi:10.5582/irdr.2020.03089.
Sarkany RP. The management of porphyria cutanea tarda. Clinical and Experimental Dermatology. 2001;26(3): 225-232. doi:10.1046/j.1365-2230.2001.00825.x.
Mathews-Roth MM, Pathak UA, Fitzpatrick TB, et al. Beta-carotene as an oral photoprotective agent in erythropoietic protoporphyria. JAMA. 1974;228(8): 1004-1008.
Kuter DJ, Bonkovsky HL, Monroy S, et al. Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial. Journal of Hepatology. 2023;79(5): 1150-1158. doi:10.1016/j.jhep.2023.06.013.
Referanslar
Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375(9718): 924-937. doi:10.1016/S0140-6736(09)61925-5.
Phillips JD. Heme biosynthesis and the porphyrias. Molecular Genetics and Metabolism. 2019;128(3): 164-177. doi:10.1016/j.ymgme.2019.04.008.
Bonkovsky HL, Maddukuri VC, Yazici C, et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. The American Journal of Medicine. 2014;127(12): 1233-1241. doi:10.1016/j.amjmed.2014.06.036.
Balwani M, Bloomer J, Desnick R. Erythropoietic Protoporphyria, Autosomal Recessive. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. 2012 Sep 27 [Updated 2017 Sep 7]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK100826/
Dhital R, Basnet S, Poudel DR, et al. Acute intermittent porphyria: a test of clinical acumen. Journal of Community Hospital Internal Medicine Perspectives. 2017;7(2): 100-102. doi:10.1080/20009666.2017.1317535.
Hooda AK, Madan H, Harneja HS, et al. INTERMITTENT ACUTE PORPHYRIA: A Report of Three Cases. Medical Journal Armed Forces India. 1996;52(1): 57-59. doi:10.1016/S0377-1237(17)30838-9.
Gounden V, Jialal I. Acute Porphyria. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan. [Updated 2023 Jul 17]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537352/
Indika NLR, Kesavan T, Dilanthi HW, et al. Many pitfalls in diagnosis of acute intermittent porphyria: a case report. BMC Research Notes. 2018;11(1): 552. doi:10.1186/s13104-018-3615-z.
Edel Y, Mamet R. Porphyria: What Is It and Who Should Be Evaluated? Rambam Maimonides Medical Journal. 2018;9(2): e0013. doi:10.5041/RMMJ.10333.
Wang Q, Zhuang Jl, Han B, et al. Drug-associated porphyria: a pharmacovigilance study. Orphanet Journal of Rare Diseases. 2024;19: 286. https://doi.org/10.1186/s13023-024-03294-8
Sardh E, Barbaro M. Acute Intermittent Porphyria. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. 2005 Sep 27 [Updated 2024 Feb 8]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1193/
Lamon J, With TK, Redeker AG. The Hoesch test: bedside screening for urinary porphobilinogen in patients with suspected porphyria. Clinical Chemistry. 1974;20(11): 1438-1440.
Mohan G, Madan A. ALA Dehydratase Deficiency Porphyria. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan. [Updated 2023 Jul 3]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560836/
Wang B, Bonkovsky HL, Lim JK, et al. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. Gastroenterology. 2023;164(3): 484-491. doi:10.1053/j.gastro.2022.11.034.
Zhao L, Wang X, Zhang X, et al. Therapeutic strategies for acute intermittent porphyria. Intractable & Rare Diseases Research. 2020;9(4): 205-216. doi:10.5582/irdr.2020.03089.
Sarkany RP. The management of porphyria cutanea tarda. Clinical and Experimental Dermatology. 2001;26(3): 225-232. doi:10.1046/j.1365-2230.2001.00825.x.
Mathews-Roth MM, Pathak UA, Fitzpatrick TB, et al. Beta-carotene as an oral photoprotective agent in erythropoietic protoporphyria. JAMA. 1974;228(8): 1004-1008.
Kuter DJ, Bonkovsky HL, Monroy S, et al. Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial. Journal of Hepatology. 2023;79(5): 1150-1158. doi:10.1016/j.jhep.2023.06.013.
