Analysis of the Causes of Acute Intermittent Porphyria Misdiagnosed as Epilepsy

YANG Jinyan; TANG Feifei; KONG Yanhua

doi:10.3969/j.issn.1002-3429.2024.19.001

Abstract：Objective To explore the causes of acute intermittent porphyria(AIP)misdiagnosed as epilepsy,in or-der to reduce the clinical misdiagnosis rate.Methods Retrospective analysis was performed on the case data of a patient di-agnosed with epilepsy and confirmed as AIP in September 2022.Results The patient was a 34-year-old female.Recurrent severe abdominal pain,nausea and vomiting for 2 years were the main manifestations.During the course of the disease,there were recurrent seizures,loss of consciousness,and episodic hypertension,which was misdiagnosed as epilepsy.The above symptoms still occurred repeatedly at 6 months after treatment of anti-epileptic drugs.After admission,electrolyte examination indicated severe hyponatremia,combined with the patient's characteristics of more episodes before menstruation and darker urine color,further examination of urobilinogen sun exposure test(+),and genetic test that showed mutations in hydroxym-ethylbilin synthetase gene,the diagnosis of AIP was confirmed.The misdiagnosis lasted 2 years and 3 months.After sodium supplementation combined with high-carbohydrate diet,the patient's symptoms improved significantly,and they were dis-charged from the hospital,with no occurrence based on follow-up.Conclusion AIP is a kind of disease with low incidence,which is prone to misdiagnosis or missed diagnosis,and its clinical manifestations are non-specific.If there are unexplained episodes of severe abdominal pain,nausea,vomiting,complicated with hyponatremia that is difficult to treat,and seizures,the disease should be considered,and genetic screening as early as possible,and multidisciplinary cooperation in diagnosis and treatment can ensure a better prognosis.