Vadivel Vijay Balaji, Lamba Simran
Acute Medicine, Cumberland Infirmary, North Cumbria Integrated Care, NHS Trust, Carlisle, GBR.
Internal Medicine, ABLE Charitable Hospital, Bahrola, IND.
Cureus. 2024 Oct 26;16(10):e72419. doi: 10.7759/cureus.72419. eCollection 2024 Oct.
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.
本病例报告介绍了一名20岁女性患者的情况,该患者因严重腹痛、恶心、呕吐、心动过速、高血压和尿液变色而寻求紧急医疗救治。初步诊断评估未发现明显异常;然而,后续分析显示尿卟啉原升高,证实为急性间歇性卟啉病(AIP)。患者的病史包括复发性尿路感染和既往抗利尿激素分泌不当综合征(SIADH)发作,同时伴有焦虑和抑郁的精神共病。治疗采取多方面方法,包括支持性治疗,如水合作用和镇痛,同时必须避免使用禁忌的药物。转诊至国家急性卟啉病服务中心(NAPS)后,患者接受了静脉注射血红素精氨酸,临床症状改善并随后出院。尽管如此,她后来因类似症状复发而需要再次住院。本病例突出了在出现非特异性症状的年轻女性中识别AIP的紧迫性,需要高度的临床怀疑指数。此外,它强调了早期专科干预对于避免与急性发作相关的严重后遗症的至关重要性。在急性医学科室开展有针对性的教育举措对于提高认识以及促进对这种罕见但重要疾病的及时诊断和治疗至关重要。