Needle in a Haystack: Acute Intermittent Porphyria, an Often-missed Differential Diagnosis of Abdominal Pain

被引:0
作者
Onyechi, Afoma [1 ,6 ]
Ohemeng-Dapaah, Jessica [1 ]
Shaba, Winnie [1 ]
Oyenuga, Mosunmoluwa [2 ]
Lacasse, Alexandre [1 ]
Sandeep, Sen [3 ]
Jadhav, Amar [4 ]
Kumar, Vikas [5 ]
Pante, Aditya [1 ]
机构
[1] SSM Hlth St Marys Hosp, Internal Med, St Louis, MO USA
[2] Abbott NW Hosp, Dept Internal Med, Minneapolis, MN USA
[3] SSM Hlth St Marys Hosp, Div Hematol Oncol, St Louis, MO USA
[4] SSM Hlth St Marys Hosp, Div Pulmonol & Crit Care Med, St Louis, MO USA
[5] SSM Hlth St Marys Hosp, Div Neurol, St Louis, MO USA
[6] SSM Hlth St Marys Hosp St Louis, Dept Internal Med, 6420 Clayton Rd,Suite 2218, St. Louis, MO 63117 USA
关键词
Abdominal pain; Acute intermittent porphyria; PRES; Seizures; SIADH;
D O I
10.55729/2000-9666.1232
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Acute intermittent porphyria (AIP) is a rare disease that arises due to deficiency of the biosynthetic enzyme por-phobilinogen deaminase (PBGD) involved in heme synthesis. Acute attacks can present with abdominal pain and neurological symptoms, although vague in nature. Recurrent hospitalizations for idiopathic intermittent abdominal pain should warrant investigation for AIP. Posterior reversible encephalopathy (PRES) presents with visual disturbances and seizure-like activity and can be, although rarely, associated with AIP. It is noteworthy to know that antiepileptic medication used in management of PRES can in turn worsen AIP.
引用
收藏
页码:82 / 85
页数:6
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