C4 (Clinical Case) Vascular Ehlers-Danlos Syndrome in the Paediatric Population: A Case Report of an Internal Bleed Caused by Ruptured Pseudoaneurysm

Abstract

Abstract Introduction/Background Ehlers-Danols syndrome (EDS) is a connective tissue disease characterized by joint hypermobility, skin hyperextensibility and tissue fragility. EDS has six types. Type IV EDS: vascular EDS (vEDS), is rare but also the most malignant. Case Description We report a 15-year-old boy with a previous history of spontaneous colon perforation and two left shoulder dislocations. He presented with sudden onset abdominal pain, vomiting, dizziness, and lethargy with a Glasgow coma scale of 13. His abdomen was soft but mildly tender. He had a capillary refill of 3 seconds with cold extremities, was found to be in a hypotensive shock state requiring resuscitation with fluids and inotropes, as well as intubation and mechanical ventilation. His hemoglobin dropped by 30 g/L in 6 hours. Therefore, an abdominal ultrasound was done, revealing an intrabdominal hematoma. CT scan of the abdomen confirmed a ruptured fusiform pseudoaneurysm of the accessory left hepatic artery. This was successfully managed by coil embolization, see F1 and F2, below. Genetic workup was positive for the pathogenic COL3A1 gene that presents phenotypically as Ehlers-Danlos syndrome, particularly type IV. Discussion COL3A1 encodes pro-alpha1 chains of type III collagen. Inheritance is autosomal-dominant. It can present as a de novo variant with a negative family history, as was the situation for our patient. Estimated affected people with de novo variant vEDS is 33%-50%. Clinical diagnosis of vEDS involves one major and several minor criteria (2017). Major criteria include arterial aneurysms, dissection, or rupture; intestinal rupture; uterine rupture during pregnancy; family history of vEDS. Minor criteria include easy bruising; thin skin and visible veins; facial characteristics including prominent eyes, narrow nasal bridge, thin lips; club foot, congenital hip dislocation; inguinal hernia and pneumothorax. Our patient had two elements from the major criteria: arterial pseudoaneurysm and intestinal rupture. Conclusion vEDS has high morbidity and mortality due to the risk of spontaneous internal organ/vessel injury. This can be mitigated by increased awareness of systemic manifestations of vEDS and a high index of suspicion by both primary care and emergency physicians. Once diagnosed, surveillance is crucial, including regular blood pressure monitoring, frequent non-invasive imaging to identify emerging vascular lesions, and pregnancy counselling for potential uterine rupture and avoiding trauma, collision sports, and lifting heavy items.