Maconi Giovanni, Pini Alessandro, Pasqualone Elia, Ardizzone Sandro, Bassotti Gabrio
Gastroenterology Unit, Department of Biomedical and Clinical Sciences, ASST Fatebenefratelli-Sacco, University of Milan, 20157 Milan, Italy.
Cardiovascular-Genetic Center, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
J Clin Med. 2020 Sep 28;9(10):3141. doi: 10.3390/jcm9103141.
Marfan's syndrome (MFS) seems to be frequently associated with colonic diverticulosis, but the prevalence of diverticula and symptoms evocative of diverticular disease in this population are still unknown.
This prospective case control study included 90 consecutive patients with MFS, 90 unselected controls, and 90 asymptomatic subjects. The clinical characteristics, including lower gastrointestinal symptoms, and ultrasonographic features of the bowel, including diverticula and thickening of the muscularis propria of the sigmoid colon, were investigated. In addition, the genotype of MFS patients was assessed. The characteristics of patients and controls were compared using parametric tests.
Complaints of abdominal symptoms were made by 23 (25.6%) patients with MFS and 48 (53%) control subjects ( < 0.01). Constipation and bloating were reported less frequently by MFS patients than controls (constipation: 13.3% vs. 26.6%, = 0.039; bloating: 3.3% vs. 41.1%, < 0.0001), while other symptoms were not significantly different. Sigmoid diverticulosis was detected in 12 (12.3%) patients with MFS, as well as in 3 (3.3%) asymptomatic healthy subjects and 4 (4.4%) random controls ( = 0.0310). The genetic variants of MFS were not correlated with symptoms or diverticula.
Patients with MFS have a greater prevalence of diverticula, although less abdominal symptoms, compared to the general population. Symptoms and diverticula in MFS are not correlated with any genetic variant.
马凡综合征（MFS）似乎常与结肠憩室病相关，但该人群中憩室的患病率以及提示憩室病的症状仍不明确。
这项前瞻性病例对照研究纳入了90例连续的MFS患者、90例未经过挑选的对照者以及90例无症状受试者。对临床特征（包括下消化道症状）以及肠道的超声特征（包括憩室和乙状结肠固有肌层增厚）进行了调查。此外，对MFS患者的基因型进行了评估。使用参数检验比较了患者和对照者的特征。
23例（25.6%）MFS患者和48例（53%）对照者有腹部症状主诉（P<0.01）。MFS患者报告便秘和腹胀的频率低于对照者（便秘：13.3%对26.6%，P = 0.039；腹胀：3.3%对41.1%，P<0.0001），而其他症状无显著差异。在12例（12.3%）MFS患者、3例（3.3%）无症状健康受试者和4例（4.4%）随机对照者中检测到乙状结肠憩室病（P = 0.0310）。MFS的基因变异与症状或憩室无关。
与普通人群相比，MFS患者憩室的患病率更高，尽管腹部症状较少。MFS中的症状和憩室与任何基因变异均无关联。
