Subscribe to RSS
DOI: 10.1055/a-1659-4481
Red urine and a red herring – diagnosing rare diseases in the light of the COVID-19 pandemic
Roter Harn und eine falsche Fährte – Diagnose seltener Erkrankungen im Lichte der COVID-19-Pandemie
Abstract
Background The COVID-19 pandemic has occupied the time and resources of health care professionals for more than 1 year. The risk of missed diagnoses has been discussed in the medical literature, mainly for common diseases such as cancer and cardiovascular events. However, rare diseases also need appropriate attention in times of a pandemic.
Case Report We report a 34-year-old woman with fever, pinprick sensation in her chest and thoracic spine, and dizziness after receiving the first dose of ChAdOx1 nCoV-19 vaccination. The patient’s condition worsened with abdominal pain, red urine, and hyponatremia, needing intensive care admission. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) was diagnosed. Vaccine-induced thrombocytopenia and thrombosis were ruled out. Acute hepatic porphyria was finally diagnosed, and the patient recovered completely after treatment with hemin.
Conclusion Currently, the focus of physicians is on COVID-19 and associated medical problems, such as vaccine side effects. However, it is important to be vigilant for other uncommon medical emergencies in medically exceptional situations that may shift our perception.
Zusammenfassung
Hintergrund Die COVID-19-Pandemie beansprucht seit mehr als einem Jahr Zeit und Ressourcen von Angehörigen der Gesundheitsberufe. Kollateralschäden infolge verspäteter Diagnosen wurden in der medizinischen Literatur hauptsächlich für Volkskrankheiten wie Krebs und kardiovaskuläre Ereignisse diskutiert. Aber auch seltene Krankheiten bedürfen in Zeiten einer Pandemie der entsprechenden Aufmerksamkeit.
Fallbericht Wir berichten über eine 34-jährige Frau mit Fieber, Parästhesien in Brust und Brustwirbelsäule und Schwindel nach der ersten Dosis der ChAdOx1-nCoV-19-Impfung. Der Zustand der Patientin verschlechterte sich mit Bauchschmerzen, rotem Urin und Hyponatriämie und sie musste intensivmedizinisch behandelt werden. Es wurde ein Syndrom der inadäquaten Sekretion des antidiuretischen Hormons (SIADH) diagnostiziert. Eine Vakzin-induzierte Thrombozytopenie und Thrombose wurde ausgeschlossen. Schließlich wurde eine akute hepatische Porphyrie diagnostiziert und die Patientin erholte sich nach Behandlung mit Hämin vollständig.
Fazit Aktuell liegt der Fokus der Mediziner*innen auf COVID-19 und den damit verbundenen medizinischen Problemen, wie zum Beispiel Impfnebenwirkungen. Es ist jedoch wichtig, in medizinisch außergewöhnlichen Situationen auf andere seltene medizinische Notfälle zu achten, die unsere Wahrnehmung verändern können.
Publication History
Received: 12 June 2021
Accepted after revision: 13 September 2021
Article published online:
12 November 2021
© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
-
References
- 1 Kiss P, Carcel C, Hockham C. et al. The impact of the COVID-19 pandemic on the care and management of patients with acute cardiovascular disease: a systematic review. Eur Heart J Qual Care Clin Outcomes 2021; 7: 18-27 DOI: 10.1093/ehjqcco/qcaa084. (PMID: 33151274)
- 2 Sud A, Jones ME, Broggio J. et al. Collateral damage: the impact on outcomes from cancer surgery of the COVID-19 pandemic. Ann Oncol 2020; 31: 1065-1074 DOI: 10.1016/j.annonc.2020.05.009. (PMID: 32442581)
- 3 Taruscio D, Vittozzi L, Stefanov R. National plans and strategies on rare diseases in Europe. Adv Exp Med Biol 2010; 686: 475-491 DOI: 10.1007/978-90-481-9485-8_26. (PMID: 20824461)
- 4 Evans WR, Rafi I. Rare diseases in general practice: recognising the zebras among the horses. Br J Gen Pract 2016; 66: 550-551 DOI: 10.3399/bjgp16X687625. (PMID: 27789486)
- 5 Chung CC, Wong WH, Fung JL. et al. Impact of COVID-19 pandemic on patients with rare disease in Hong Kong. Eur J Med Genet 2020; 63: 104062 DOI: 10.1016/j.ejmg.2020.104062. (PMID: 32931946)
- 6 Castelli GP, Pognani C, Sozzi C. et al. Cerebral venous sinus thrombosis associated with thrombocytopenia post-vaccination for COVID-19. Crit Care 2021; 25: 137 DOI: 10.1186/s13054-021-03572-y. (PMID: 33845870)
- 7 Pottegard A, Lund LC, Karlstad O. et al. Arterial events, venous thromboembolism, thrombocytopenia, and bleeding after vaccination with Oxford-AstraZeneca ChAdOx1-S in Denmark and Norway: population based cohort study. BMJ 2021; 373: n1114 DOI: 10.1136/bmj.n1114. (PMID: 33952445)
- 8 Greinacher A, Thiele T, Warkentin TE. et al. Thrombotic thrombocytopenia after ChAdOx1 nCov-19 vaccination. N Engl J Med 2021; DOI: 10.1056/NEJMoa2104840. (PMID: 33835769)
- 9 Schultz NH, Sorvoll IH, Michelsen AE. et al. Thrombosis and thrombocytopenia after ChAdOx1 nCoV-19 vaccination. N Engl J Med 2021; DOI: 10.1056/NEJMoa2104882. (PMID: 33835768)
- 10 Ramasamy MN, Minassian AM, Ewer KJ. et al. Safety and immunogenicity of ChAdOx1 nCoV-19 vaccine administered in a prime-boost regimen in young and old adults (COV002): a single-blind, randomised, controlled, phase 2/3 trial. Lancet 2021; 396: 1979-1993 DOI: 10.1016/S0140-6736(20)32466-1. (PMID: 33220855)
- 11 Cardenas JL, Guerrero C. Acute intermittent porphyria: general aspects with focus on pain. Curr Med Res Opin 2018; 34: 1309-1315 DOI: 10.1080/03007995.2018.1435521. (PMID: 29383964)
- 12 Silva CD, Mateus JE, Teles C. et al. Acute intermittent porphyria: analgesia can be dangerous. BMJ Case Rep 2019; 12 DOI: 10.1136/bcr-2019-231133. (PMID: 31570358)
- 13 Flores-Mireles AL, Walker JN, Caparon M. et al. Urinary tract infections: epidemiology, mechanisms of infection and treatment options. Nat Rev Microbiol 2015; 13: 269-284 DOI: 10.1038/nrmicro3432. (PMID: 25853778)
- 14 Anderson KE. Acute hepatic porphyrias: current diagnosis & management. Mol Genet Metab 2019; 128: 219-227 DOI: 10.1016/j.ymgme.2019.07.002. (PMID: 31311713)
- 15 Solares I, Tejedor M, Jerico D. et al. Management of hyponatremia associated with acute porphyria-proposal for the use of tolvaptan. Ann Transl Med 2020; 8: 1098 DOI: 10.21037/atm-20-1529. (PMID: 33145317)
- 16 Verbalis JG, Goldsmith SR, Greenberg A. et al. Diagnosis, evaluation, and treatment of hyponatremia: expert panel recommendations. Am J Med 2013; 126: S1-42 DOI: 10.1016/j.amjmed.2013.07.006. (PMID: 24074529)
- 17 Cuesta M, Thompson CJ. The syndrome of inappropriate antidiuresis (SIAD). Best Pract Res Clin Endocrinol Metab 2016; 30: 175-187 DOI: 10.1016/j.beem.2016.02.009. (PMID: 27156757)
- 18 Stolzel U, Doss MO, Schuppan D. Clinical guide and update on porphyrias. Gastroenterology 2019; 157: 365-381 e364 DOI: 10.1053/j.gastro.2019.04.050. (PMID: 31085196)
- 19 Mustajoki P, Nordmann Y. Early administration of heme arginate for acute porphyric attacks. Arch Intern Med 1993; 153: 2004-2008 (PMID: 8357285)
- 20 Anderson KE, Bloomer JR, Bonkovsky HL. et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005; 142: 439-450 DOI: 10.7326/0003-4819-142-6-200503150-00010. (PMID: 15767622)
- 21 Balwani M, Sardh E, Ventura P. et al. Phase 3 trial of RNAi therapeutic Givosiran for acute intermittent porphyria. N Engl J Med 2020; 382: 2289-2301 DOI: 10.1056/NEJMoa1913147. (PMID: 32521132)
- 22 Gouya L, Ventura P, Balwani M. et al. EXPLORE: A prospective, multinational, natural history study of patients with acute hepatic porphyria with recurrent attacks. Hepatology 2020; 71: 1546-1558 DOI: 10.1002/hep.30936. (PMID: 31512765)
- 23 Edel Y, Mamet R, Cohen S. et al. The clinical importance of early acute hepatic porphyria diagnosis: a national cohort. Intern Emerg Med 2021; 16: 133-139 DOI: 10.1007/s11739-020-02359-3. (PMID: 32372331)
- 24 Bonkovsky HL, Maddukuri VC, Yazici C. et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med 2014; 127: 1233-1241 DOI: 10.1016/j.amjmed.2014.06.036. (PMID: 25016127)
- 25 Wilbert-Lampen U, Leistner D, Greven S. et al. Cardiovascular events during World Cup soccer. N Engl J Med 2008; 358: 475-483 DOI: 10.1056/NEJMoa0707427. (PMID: 18234752)
- 26 Kirubarajan A, Taher A, Khan S. et al. Artificial intelligence in emergency medicine: a scoping review. J Am Coll Emerg Physicians Open 2020; 1: 1691-1702 DOI: 10.1002/emp2.12277. (PMID: 33392578)
- 27 Cohen AM, Chamberlin S, Deloughery T. et al. Detecting rare diseases in electronic health records using machine learning and knowledge engineering: case study of acute hepatic porphyria. PLoS One 2020; 15: e0235574 DOI: 10.1371/journal.pone.0235574. (PMID: 32614911)
- 28 Ventura P, Cappellini MD, Biolcati G. et al. A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias. Eur J Intern Med 2014; 25: 497-505 DOI: 10.1016/j.ejim.2014.03.011. (PMID: 24809927)
- 29 COVID-19 and Porphyria: COVID-19 vaccine safety. https://porphyria.eu