{"title":"急性间歇性卟啉症:诊断难题。","authors":"Vijay Balaji Vadivel, Simran Lamba","doi":"10.7759/cureus.72419","DOIUrl":null,"url":null,"abstract":"<p><p>This case report presents the case of a 20-year-old female patient who sought emergency medical attention for severe abdominal pain, nausea and vomiting, tachycardia, hypertension, and discolored urine. Initial diagnostic evaluations yielded no significant abnormalities; however, subsequent analysis revealed elevated urinary porphobilinogen, corroborating a diagnosis of acute intermittent porphyria (AIP). The patient's medical history included recurrent urinary tract infections and a prior episode of syndrome of inappropriate antidiuretic hormone secretion (SIADH), in conjunction with psychiatric comorbidities of anxiety and depression. Management encompassed a multifaceted approach involving supportive therapies, such as hydration and analgesia, alongside the imperative to abstain from using contraindicated pharmacological agents. Following referral to the National Acute Porphyria Service (NAPS), the patient received intravenous Haem arginate, resulting in clinical improvement and subsequent discharge. Nonetheless, she later necessitated further hospitalization due to the recurrence of similar symptoms. This case highlights the exigency of recognizing AIP in young women presenting with nonspecific symptoms, necessitating a high index of clinical suspicion. Furthermore, it accentuates the critical importance of early specialist intervention to avert severe sequelae associated with acute episodes. The integration of targeted educational initiatives within Acute Medicine departments is paramount for fostering awareness and facilitating prompt diagnosis and management of this rare yet significant disorder.</p>","PeriodicalId":93960,"journal":{"name":"Cureus","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512492/pdf/","citationCount":"0","resultStr":"{\"title\":\"Acute Intermittent Porphyria: A Diagnostic Conundrum.\",\"authors\":\"Vijay Balaji Vadivel, Simran Lamba\",\"doi\":\"10.7759/cureus.72419\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>This case report presents the case of a 20-year-old female patient who sought emergency medical attention for severe abdominal pain, nausea and vomiting, tachycardia, hypertension, and discolored urine. Initial diagnostic evaluations yielded no significant abnormalities; however, subsequent analysis revealed elevated urinary porphobilinogen, corroborating a diagnosis of acute intermittent porphyria (AIP). The patient's medical history included recurrent urinary tract infections and a prior episode of syndrome of inappropriate antidiuretic hormone secretion (SIADH), in conjunction with psychiatric comorbidities of anxiety and depression. Management encompassed a multifaceted approach involving supportive therapies, such as hydration and analgesia, alongside the imperative to abstain from using contraindicated pharmacological agents. Following referral to the National Acute Porphyria Service (NAPS), the patient received intravenous Haem arginate, resulting in clinical improvement and subsequent discharge. Nonetheless, she later necessitated further hospitalization due to the recurrence of similar symptoms. This case highlights the exigency of recognizing AIP in young women presenting with nonspecific symptoms, necessitating a high index of clinical suspicion. Furthermore, it accentuates the critical importance of early specialist intervention to avert severe sequelae associated with acute episodes. The integration of targeted educational initiatives within Acute Medicine departments is paramount for fostering awareness and facilitating prompt diagnosis and management of this rare yet significant disorder.</p>\",\"PeriodicalId\":93960,\"journal\":{\"name\":\"Cureus\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-10-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512492/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cureus\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.7759/cureus.72419\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cureus","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7759/cureus.72419","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Acute Intermittent Porphyria: A Diagnostic Conundrum.
This case report presents the case of a 20-year-old female patient who sought emergency medical attention for severe abdominal pain, nausea and vomiting, tachycardia, hypertension, and discolored urine. Initial diagnostic evaluations yielded no significant abnormalities; however, subsequent analysis revealed elevated urinary porphobilinogen, corroborating a diagnosis of acute intermittent porphyria (AIP). The patient's medical history included recurrent urinary tract infections and a prior episode of syndrome of inappropriate antidiuretic hormone secretion (SIADH), in conjunction with psychiatric comorbidities of anxiety and depression. Management encompassed a multifaceted approach involving supportive therapies, such as hydration and analgesia, alongside the imperative to abstain from using contraindicated pharmacological agents. Following referral to the National Acute Porphyria Service (NAPS), the patient received intravenous Haem arginate, resulting in clinical improvement and subsequent discharge. Nonetheless, she later necessitated further hospitalization due to the recurrence of similar symptoms. This case highlights the exigency of recognizing AIP in young women presenting with nonspecific symptoms, necessitating a high index of clinical suspicion. Furthermore, it accentuates the critical importance of early specialist intervention to avert severe sequelae associated with acute episodes. The integration of targeted educational initiatives within Acute Medicine departments is paramount for fostering awareness and facilitating prompt diagnosis and management of this rare yet significant disorder.