Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome.

Objectives: The aim of this study was to investigate national prevalence, general demographic characteristics and survival of Danish patients with Ehlers-Danlos syndrome (EDS). Method: A population-based cohort study was conducted using a database consisting of the entire Danish population alive at any given time between 1 January 2000 and 31 December 2012, based upon longitudinal Danish national registers. All patients with EDS were identified, and the cohort was described by disease prevalence, basic demographic characteristics, mean age at death and mortality for the observational period of 13 years. Results: The cohort held 1427 unique persons with EDS, giving a national prevalence of 0.02%. The EDS population had a mean ( s . d .) age of 34.9 (18.6) years and comprised 73.9% females and 26.1% males. Of the cohort, 95.9% originated from Denmark and 57% were unmarried. We found that 31.6% of the cohort received state-granted subsidies, of which 77% were in the form of early retirement pension. Regarding educational status, 28.1% of the EDS cohort had completed primary education (⩽10th grade) as their highest educational level, while 71.9% had completed a higher level. During the observation period, 42 patients died, with a mean ( s . d .) age at death of 53.6 (21.7) years. Conclusion: This study confirmed a small national prevalence of patients diagnosed with EDS and showed that the majority of patients diagnosed are female. The EDS cohort had a lower educational level, mean age and life expectancy compared with the background population and showed a predisposition for receiving state-granted subsidies.

Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review.

BACKGROUND/AIMS: Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility. Most severe complications include vascular and gastrointestinal (GI) emergencies requiring acute surgery. The purpose of this systematic review was to assess the causes of GI-related surgery and related mortality and morbidity in patients with EDSs. METHODS: A systematic search was conducted in PubMed, Embase, and Scopus to identify relevant studies. Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines for systematic reviews were followed. According to eligibility criteria, data were extracted and systematically screened by 2 authors. RESULTS: Screening process identified 11 studies with a total of 1,567 patients. Findings indicated that patients with EDSs had a higher occurrence of surgery demanding GI manifestations, including perforation, hemorrhage, rupture of intra-abdominal organs, and rectal prolapse. Most affected was the vascular subtype, of which up to 33% underwent GI surgery and suffered from a lowered average life expectancy of 48 years (range 6-78). Secondary complications of surgery were common in all patients with EDSs. CONCLUSION: Studies suggested that patients with EDSs present an increased need for GI surgery, but also an increased risk of surgery-related complications, most predominantly seen in the vascular subtype.

Association between diverticular disease and Ehlers-Danlos syndrome: a 13-year nationwide population-based cohort study.

PURPOSE: The aim of this study was to examine occurrence and consequences of diverticular disease in patients with Ehlers-Danlos syndrome (EDS) compared with a matched cohort. METHODS: This nationwide population-based cohort study was conducted using data from medical registers in Denmark from year 2000 to 2012. The EDS cohort was identified using the specific diagnosis code for EDS and was randomly matched in a ratio of 1:20 by sex and date of birth (±1 year) with persons from the Danish general population. The occurrence of diverticular disease and the clinical characteristics of the initial diverticular event were compared between the EDS cohort and the comparison cohort. The first admission with diverticulitis was identified, and severity of diverticulitis, treatment, colonoscopies, length of stay, and 30-day mortality were investigated. RESULTS: We identified 1336 patients with EDS and matched a control cohort of 26,720 patients. The occurrence of diverticular disease in the EDS cohort (2.0 %) and the comparison cohort (0.68 %) differed significantly (p < 0.001). At the first diverticular event, the majority of patients were women (85 % for EDS and 87 % for the comparison cohort). Mean age, localization, and type of contact did not differ significantly. Admission with diverticulitis (1.0 % for EDS and 0.34 % for the comparison cohort) differed significantly (p < 0.001). We found no significant difference in severity of diverticulitis, treatment, length of stay, or 30-day mortality between the EDS and the comparison cohorts. CONCLUSIONS: Patients with EDS had an increased occurrence of overall diverticular events and admissions with diverticulitis compared with the general population.

The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study.

OBJECTIVES: Ehlers-Danlos syndrome (EDS) constitutes a group of connective tissue diseases with variable organ dysfunction. We aimed to examine the comorbidity burden in patients with EDS. METHODS: A nationwide population-based cohort study linking data from Danish registers from the year 2000-2014. The EDS cohort was identified using the International Classification of Diseases version 10 (ICD-10) EDS code. The control cohort was formed from the Danish general population by randomly matching the EDS cohort in a ratio of 1:25 by sex and date of birth. Hospital contacts were used to identify the most frequently occurring ICD-10 codes. We investigated the frequencies of the disease categories and unique ICD-10 codes and compared these between the cohorts. RESULTS: The EDS cohort included 1,319 patients and the control cohort 46,700 patients. All disease categories and ICD-10 codes were significantly more frequent within the EDS cohort, especially those related to common manifestations of EDS. Other comorbidities such as asthma, pneumonia, gastrointestinal functional disorders, and hernias were also significantly more common in the EDS cohort. CONCLUSIONS: The most common comorbidities in Danish patients with EDS were gastrointestinal functional disorders, hernias, asthma, pneumonia, and osteoporosis. The causality between these comorbidities and EDS should be investigated further.Implications for RehabilitationEhlers-Danlos syndrome constitutes a group of connective tissue diseases causing a variable range of organ dysfunction.The comorbidity burden for patients with Ehlers-Danlos syndrome was unexplored previously.This study showed that the most common comorbidities in Danish patients with Ehlers-Danlos syndrome are gastrointestinal functional disorders, hernias, asthma, pneumonia, and osteoporosis.

[Ehlers-Danlos syndrome].

Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria, and because physicians may lack knowledge of this rare disease. The aim of this article is to provide an overview of the clinical symptoms and to provide recommendations on diagnosis and treatment. Referring patients to one of the national centres for rare diseases is important.