Hadjivasilis Alexandros, Ioakim Kalliopi J, Neocleous Anastasia, Demetriou Karolos, Panjiyar Soni, Iacovou Froso, Michaelides Demos, Potamitis George
School of Medicine, European University Cyprus (Alexandros Hatjivasilis, Kalliopi J. Ioakim, Anastasia Neocleous, Karolos Demetriou, Soni Panjiyar, George Potamitis), Cyprus.
ECC Labs - IHCS (Froso Iacovou), Cyprus.
Ann Gastroenterol. 2019 Mar-Apr;32(2):208-210. doi: 10.20524/aog.2018.0342. Epub 2019 Jan 2.
Mastocytosis is a rare and heterogeneous group of diseases whose common element is the presence of dense mast-cell infiltrates in various tissues. The gastrointestinal (GI) tract is frequently affected with vague and subtle manifestations, making the diagnosis of GI mastocytosis rather formidable and challenging. The diagnosis of the disease requires a high level of clinical suspicion and an index of familiarity. To our knowledge, this is the first case of indolent systemic mastocytosis with colonic ulcerations. Because of the unusual presentation of mastocytosis, it was initially misdiagnosed as Crohn's disease; the diagnosis of mastocytosis was established after further evaluation of the patient's history and further investigation. Systemic mastocytosis should therefore be considered in the differential diagnosis in patients presenting with abdominal manifestations that cannot be otherwise explained or attributed to common GI pathologies and in cases where the patient's trajectory does not follow the expected course. More research is needed into the epidemiology and the non-classical presentation of systemic mastocytosis in order to increase awareness of the disease in the medical community.
肥大细胞增多症是一组罕见且异质性的疾病,其共同特征是在各种组织中存在密集的肥大细胞浸润。胃肠道(GI)常受到影响,表现模糊且不明显,这使得胃肠道肥大细胞增多症的诊断颇具难度且具有挑战性。该疾病的诊断需要高度的临床怀疑和熟悉度指标。据我们所知,这是首例伴有结肠溃疡的惰性系统性肥大细胞增多症病例。由于肥大细胞增多症的表现不寻常,最初被误诊为克罗恩病;在对患者病史进行进一步评估和进一步检查后,才确诊为肥大细胞增多症。因此,对于出现无法用其他原因解释或归因于常见胃肠道病变的腹部表现的患者,以及病情发展不符合预期病程的病例,在鉴别诊断时应考虑系统性肥大细胞增多症。为了提高医学界对该疾病的认识,需要对系统性肥大细胞增多症的流行病学和非典型表现进行更多研究。