Abstract
Background: 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. Methods: 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. Results: Complaints of abdominal symptoms were made by 23 (25.6%) patients with MFS and 48 (53%) control subjects (p < 0.01). Constipation and bloating were reported less frequently by MFS patients than controls (constipation: 13.3% vs. 26.6%, p = 0.039; bloating: 3.3% vs. 41.1%, p < 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 (p = 0.0310). The genetic variants of MFS were not correlated with symptoms or diverticula. Conclusion: 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.
Highlights
Marfan’s syndrome (MFS) is an autosomal dominant hereditary disorder, characterized by an altered production of connective tissue— fibrillin—a major constituent of elastic tissue
Constipation and bloating/abdominal distension were reported less frequently by patients with MFS compared to the controls
No complications were reported during endoscopic procedures in MFS patients
Summary
Marfan’s syndrome (MFS) is an autosomal dominant hereditary disorder, characterized by an altered production of connective tissue— fibrillin—a major constituent of elastic tissue. 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. Results: Complaints of abdominal symptoms were made by 23 (25.6%) patients with MFS and 48 (53%) control subjects (p < 0.01). Constipation and bloating were reported less frequently by MFS patients than controls (constipation: 13.3% vs 26.6%, p = 0.039; bloating: 3.3% vs 41.1%, p < 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 (p = 0.0310). Conclusion: Patients with MFS have a greater prevalence of diverticula, less abdominal symptoms, compared to the general population. Symptoms and diverticula in MFS are not correlated with any genetic variant
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