Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome

Abstract

Objective Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. Hypermobile EDS (hEDS) is thought to be the most common type. Recent studies have suggested an association between connective tissue hypermobility and functional gastrointestinal disorders (FGDs). The aim of this study is to determine the prevalence of gastrointestinal symptoms in patients with Marfan syndrome and hypermobile EDS. Method Patients with a diagnosis of either MS or hEDS attending cardiology or rheumatology outpatients at our hospital were asked to complete SF36 RAND and Rome IV Diagnostic questionnaires. Questionnaires were also completed by patients who are members of Marfan Association UK. The same questionnaires were also completed by age- and gender-matched controls attending fracture clinic without existing diagnoses of MS or hEDS. Results Data were collected from 45 MS patients (12 males and 33 females, age range 19–41 years, mean 28 years) and 45 hEDS patients (6 males and 39 females, age range 18–32 years, mean 24 years). None had a previous organic gastrointestinal diagnosis. The control group was matched for age and sex (18 males and 72 females, age range 18–45, mean 29 years). Both MS and hEDS groups showed a higher prevalence of abdominal symptoms compared to the control group; however, the hEDS group not only showed a higher prevalence but more frequent and severe symptoms meeting Rome IV criteria for diagnosis of FGIDs. Nearly half of the hEDS patients met the criteria for more than one FGID. The hEDS group also scored lower on quality of life (QOL) scores in comparison to either of the other groups with a mean score of 48.6 as compared to 54.2 in the Marfan group and 78.6 in the control group. Conclusion FGIDs are reported in both Marfan syndrome and hypermobile Ehlers-Danlos syndrome but appear to be more common and severe in hEDS. These patients score lower on quality of life scores as well despite hypermobility being a common feature of both conditions. Further work is needed to understand the impact of connective tissue disorders on gastrointestinal symptoms.

Markers of Undifferentiated Connective Tissue Dysplasia in Female Patients with Acute Q-myocardial Infarction

“…In patients of the main group significantly more often than in women of the comparison group were found varicose veins of the lower extremities (p<0.05). It should be noted that the occurrence of varicose veins of the lower extremities in patients with small structural abnormalities of the heart on the background of UCTD, according to various authors, is 4.8 -12.9% [10,15,16,19,20]. However, in our study, the number of such women was higher -33.3% patients with MI on the background of UCTD, which is also most likely due to mixed gender of studied groups in previous researches.…”

Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know

“…Moreover, the reported prevalence of gastrointestinal symptoms varies widely depending on whether it is derived from population‐based studies, support groups, non‐gastroenterological specialist (genetics, cardiology and rheumatology) clinics (Table 2) and gastroenterology clinics (Table 3). 4,14,23–28 Nevertheless, gastrointestinal symptoms have been associated with impairment of quality of life in patients with HSD/hEDS in each of the study settings 3–5,22,27 …”

Pain Symptomatology and Management in Pediatric Ehlers–Danlos Syndrome: A Review

“…Abdominal pain was endorsed by 51.2% of adults with classical EDS, 56.1% of those with hEDS, 81.5% of those with vascular type EDS, and 43.2% of those with other forms of EDS [56], indicating that regardless of the type of EDS, abdominal pain is likely to present as a painful symptom necessitating management. Given the frequency of the endorsement of abdominal pain in adults with EDS generally, with upwards of half of all adults with hEDS meeting Rome IV criteria for the diagnosis of FGID [57], coupled with the comorbidity of hypermobility syndromes and FGID noted in pediatric samples, further examination of such symptomatology in pediatric EDS populations is warranted. The lack of evidence examining the frequency and nature of abdominal pain complaints in pediatric EDS samples is a considerable shortcoming of research to date, given that crucial, life-threatening differential diagnoses to consider with abdominal pain presentation include aneurysm, rupture, dissection, varicosities and arteriovenous fistula formation [58].…”