Cheng Shanna, Yu Elliot, Garacci Zhuping, Erwin Angelika L, Venkatesan Thangam
Department of Medicine, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA.
Gastroenterology and Hepatology Fellow, Division of Gastroenterology and Hepatology, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA.
Dig Dis Sci. 2023 May;68(5):2107-2114. doi: 10.1007/s10620-022-07756-6. Epub 2022 Nov 16.
Acute hepatic porphyria (AHP) presents with nausea and vomiting and can mimic cyclic vomiting syndrome (CVS). The prevalence of AHP in CVS and overlap in clinical symptomatology is not known. We thus sought to determine the prevalence of pathogenic variants for AHP and characterize symptom overlap between CVS and AHP.
We conducted a cross-sectional study of 234 CVS patients using Rome criteria. Patients were eligible for AHP genetic testing if they had recurrent episodes of severe, diffuse abdominal pain with ≥ 2 of the following-peripheral nervous system (muscle weakness/aching, numbness, tingling), central nervous system (confusion, anxiety, seizures, hallucinations), autonomic nervous system (hyponatremia, tachycardia, hypertension, constipation) symptoms, red/brownish urine, or blistering skin lesions on sun-exposed areas. A family history of AHP or elevated urinary porphobilinogen (PBG)/aminolaevulinic acid (ALA) were also criteria for genetic testing and was performed using a 4-gene panel.
Mean age was 38.7 ± 14.5 years, 180 (76.9%) were female and 200 (85.5%) were Caucasian. During a CVS attack, 173 (92%) reported abdominal pain, 166 (87.2%) had peripheral nervous system, 164 (86.8%) had central nervous system and 173 (92) % had autonomic symptoms. Ninety-one eligible patients completed genetic testing. None were positive for AHP but two had variants of uncertain significance (VUS) in the HMBS gene.
There is a high prevalence of non-gastrointestinal symptoms in CVS, like AHP, which is important for clinicians to recognize. AHP was not detected in this study and larger studies are warranted to ascertain its prevalence.
急性肝卟啉病（AHP）表现为恶心和呕吐，可类似周期性呕吐综合征（CVS）。CVS中AHP的患病率以及临床症状重叠情况尚不清楚。因此，我们试图确定AHP的致病变异患病率，并描述CVS与AHP之间的症状重叠情况。
我们对234例符合罗马标准的CVS患者进行了横断面研究。如果患者有复发性严重弥漫性腹痛，且伴有以下至少2种症状——外周神经系统（肌肉无力/疼痛、麻木、刺痛）、中枢神经系统（意识模糊、焦虑、癫痫发作、幻觉）、自主神经系统（低钠血症、心动过速、高血压、便秘）症状、红色/棕色尿液或暴露于阳光下的皮肤水疱性病变，则有资格进行AHP基因检测。AHP家族史或尿卟啉原（PBG）/氨基乙酰丙酸（ALA）升高也是基因检测的标准，检测使用4基因panel进行。
平均年龄为38.7±14.5岁，180例（76.9%）为女性，200例（85.5%）为白种人。在CVS发作期间，173例（92%）报告有腹痛，166例（87.2%）有外周神经系统症状，164例（86.8%）有中枢神经系统症状，173例（92%）有自主神经症状。九十一名符合条件的患者完成了基因检测。无一例AHP呈阳性，但有两例在HMBS基因中有意义未明的变异（VUS）。
CVS中存在高患病率的非胃肠道症状，如AHP，这对临床医生认识到这一点很重要。本研究未检测到AHP，需要更大规模的研究来确定其患病率。
