Akut polinöropatinin tekrarlayan atakları olan bir olguda tanı güçlüğü: Akut intermittant porfiria

Year 2021, , 1719 - 1724, 30.12.2021

Selma Tekin , Ahmet Mağrur Karagülmez , Çağdaş Erdoğan , Eylem Değirmenci Onur Tokgün

https://doi.org/10.17826/cumj.982619

Abstract

Akut intermittant porfiri, porfirinin en yaygın alt tiplerinden biridir. Multisistemik bir hastalık olması ve tedavi edilemeyen olgularda prognozun kötü olması nedeniyle tanı koymak çok önemlidir. Burada şiddetli karın ağrısı ile acil servise başvuran ve ileus ön tanısıyla opere edilen, operasyon sonrası tetraparezi gelişen 27 yaşında bayan hasta sunulacaktır. Hastanın dört ekstremitesinde kas güçsüzlüğü, sempatik hiperaktivite bulguları ve elektrolit dengesizliği vardı. Yapılan elektrofizyolojik çalışmalar akut aksonal polinöropatiyi destekledi. Hastanın nörolojik semptomları, elde edilen elektrofizyolojik bulguları, metabolik bozukluklar ile birlikte şiddetli karın ağrısı olan hastada porfiriden şüphelenildi. Bakılan 24 saatlik idrar testinde porfobilinojen ve ALA düzeylerinin yükseldiği gösterilen hastaya akut intermittant porfiri tanısı konuldu. Açıklanamayan tekrarlayan karın ağrısı, otonom disfonksiyon, nörolojik ve/veya psikiyatrik bulguları olan hastalarda, nadir görülen bir hastalık olan porfiri akla gelmelidir.

Keywords

Porfiria, Akut intermittant porfiria, akut polinöropati, motor aksonal polinöropati

Diagnostic difficulty in a patient with recurrent attacks of acute polyneuropathy: Acute intermittent porphyria

Abstract

Acute intermittent porphyria is one of the most common porphyria subtypes. There is a critical need to diagnose porphyria, given its multisystem nature and the poor prognosis associated with incurable cases. Here we present the case of a 27-year-old female patient who had severe abdominal pain and who was operated on due to ileus with tetraparesis that manifested following an operation. The patient had muscle weakness in four limbs and symptoms of sympathetic hyperactivity and electrolyte imbalance. Moreover, neurophysiological studies supported acute axonal polyneuropathy. Owing to the neurological symptoms, electrophysiological studies, metabolic disorders, and the severe abdominal pain noted, porphyria was suspected. Porphobilinogen and ALA levels increased in the 24-hour urine test, and the patient was diagnosed with acute intermittent porphyria. In patients who have unexplained recurrent abdominal pain with additional autonomic dysfunction, neurological and / or psychiatric findings, porphyria, a rare disease, should come to mind.

Keywords

Porphyria, acute intermittent porphyria, acute polyneuropathy, motor axonal polyneuropathy

References

• 1. Stölzel U, Doss MO, Schuppan D. Clinical Guide and Update on Porphyrias. Gastroenterology. 2019; 157:365-381.e4.
• 2. Ramanujam VMS, Anderson KE. Porphyria diagnostics-part 1: A brief overview of the porphyrias. Current Protocols in Human Genetics. 2015; 17.20.1-17.20.26.
• 3. Spiritos Z, Salvador S, Mosquera D, Wilder J. Acute intermittent porphyria: Current perspectives and case presentation. Therapeutics and Clinical Risk Management. 2019; 15:1443–1451.
• 4. Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN. Diagnostic strategies for autosomal dominant acute porphyrias: Retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. Clinical Chemistry. 2009; 55:1406–1414.
• 5. Whatley SD, Badminton MN. Role of genetic testing in the management of patients with inherited porphyria and their families. Annals of Clinical Biochemistry.2013; 50:204–216.
• 6. Bonkovsky HL, Guo JT, Hou W, Li T, Narang T, Thapar M. Porphyrin and heme metabolism and the porphyrias. Comprehensive Physiology.2013; 3:365–401. 7. Simon NG, Herkes GK. The neurologic manifestations of the acute porphyrias. Journal of Clinical Neuroscience. 2011; 18:1147–1153.
• 8. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program 2012; 2012:19–27.
• 9. Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, et al. Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology. 2017; 66:1314–1322.
• 10. Tracy JA, Dyck PJB. Porphyria and Its Neurologic Manifestations. Vol 120. 1st ed. Elsevier B.V., 2014. http://dx.doi.org/10.1016/B978-0-7020-4087-0.00056-5.
• 11. April M. Scientific Papers Presented at the 52nd Annual Session The American College of Physicians. 2013; 2:817–844.
• 12. Léger JM, Salachas F. Diagnosis of motor neuropathy. European Journal of Neurology. 2001; 8:201–208.
• 13. Sassa S. Modern diagnosis and management of the porphyrias. British Journal of Haematology. 2006; 135:281–292.
• 14. Santosh PJ, Malhotra S. Varied psychiatric manifestations of acute intermittent porphyria. Biological Psychiatry. 1994; 36:744–747.
• 15. Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, et al. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Human Mutation. 2016; 37:1215–1222.