Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome

Abstract

The vascular type of Ehlers-Danlos syndrome (type IV) is an infrequent disease caused by heterozygous germline mutations in the procollagen 3A gene (COL3A1). Clinical signs include characteristic facial features, easy bruising, and a translucent skin. These signs are less obvious than the hyperflexibility of skin and joints seen in other types of Ehlers-Danlos syndrome. Therefore, diagnosis of Ehlers-Danlos syndrome type IV is usually not considered until complications have occurred. Complications include spontaneous ruptures of vessels and hollow organs, particularly the colon. We, herein, report pathologic findings in colon specimens from related Ehlers-Danlos syndrome type IV patients. Thorough examination revealed abnormalities of the large bowel architecture including abrupt changes in the caliber of the lamina muscularis, secondary diverticula formation, and strongly reduced expression of abnormal collagen 3. These findings are not seen in other diseases of the colon and should prompt the pathologist to include Ehlers-Danlos syndrome type IV in the differential diagnosis of spontaneous bowel perforation in younger patients.

Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

“…It comprises a group of hereditary connective tissue disorders which are differentiated into six main types according to the Villefranche classification [6,7]. The vascular type of Ehlers Danlos syndrome, EDS-IV, is a rare autosomal dominant disorder accounting for 5% to 10% of all cases of EDS [5].…”

Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review

“…All EDS subtypes are due to mutations that cause either defective collagen or defective enzyme modulation of collagen fibers, resulting in the connective tissue losing its structural integrity [6]. The function of collagen is, for example, to form structural integrity of supportive structures such as bones, skin, ligaments, blood vessels and internal organs.…”

“…The vascular type of EDS is also named the malignant type, and is the most severe subtype, with an overall mortality of 90% before the age of 50 because of spontaneous rupture of vessels and internal organs [10]. The vascular type of EDS constitutes approximately 5% of all EDS cases, but this is probably underestimated since only 16% of patients with vascular EDS have symptoms that could indicate EDS before the occurrence of a serious complication [9], and if serious complications occur, it is possible that the complication is not seen in the context of a systemic connective tissue disease [6]. This results in a late or alternatively postmortem diagnosis of EDS [11].…”

Enfermedad diverticular: mitos y realidades

“…Otros han señalado el rol del gen TNFSF15 en el riesgo de cirugía en pacientes con DA 18 . Enfermedades genéticas relacionadas con alteraciones del tejido conectivo, como el síndro-me de Williams Beuren y Ehlers Danlos, estarían asociadas a diverticulosis, dado cambios a nivel de la elastina 19 y disminución de la expresión de colágeno-3 20 , respectivamente.…”