P054 Vascular Ehlers-Danlos syndrome: a life-altering diagnosis not to be missed
Authors: Yeoh Su-Ann , von Stempel Conrad , Thornton Clare , Yalamanchili Seema , Manson Jessica 
Published: April 2022

Background/Aims

A 41-year-old lady underwent a laparotomy and small bowel resection for small bowel obstruction due to adhesions after presenting with a three-day history of abdominal pain. The surgery was complicated by significant bleeding from multiple points of the mesentery and a laceration of the uterine fundus, the repair of which was complicated due to extremely friable tissue. Post-operative ileus, fever, tachycardia, and raised inflammatory markers led to antibiotic therapy and further investigation with computed tomograph angiography (CTA) abdomen which identified a retroperitoneal haematoma due to a herald bleed from an adrenal artery pseudoaneurysm and multiple further true aneurysms in the coeliac, splenic, and right posterior hepatic arteries. The right adrenal artery aneurysm was treated by right renal artery stent graft as targeted embolisation was not possible due to extremely friable arterial intima that dissected and bled on instrumentation. The rheumatology team was consulted to advise on the possibility of vasculitis and whether treatment with immunosuppressives was indicated.

Methods

Prior to this admission, she denied any fever, weight loss, rash or neuropathies. There was a history of spontaneous peri-renal haematoma and easy bruising. She had three successful pregnancies; two were Caesarean section deliveries, one of which was complicated by post-partum bleeding. There was no family history of connective tissue diseases, sudden deaths, aneurysms or visceral ruptures. There were no clinical features of connective tissue disease. She was noted to have acrogeria, small finger joint hypermobility, large eyes, a small nose, and absent earlobes. There were prominent veins on her lower back, chest, arms, and legs. She had a normal palate arch, normal appearances of previous surgical scars, and there was no skin hyperextensibility.

Results

Inflammatory markers prior to admission were normal, with no cytopenias or thrombocytosis. ANA, ENA, ANCA, HIV, Hepatitis B/C, treponemal antibody, and rheumatoid factor/anti-CCP were negative. CTA showed no thickening suggestive of vascular/perivascular inflammation. Histopathology of resected small bowel and mesentery showed no evidence of vasculitis. A diagnosis of probable vascular Ehlers-Danlos syndrome (EDS) was made. She was not treated with steroids. Genetic testing confirmed a heterozygous mutation for a pathogenic missense variant in the COL3A1 gene: c.574G&gt;C,p.(Gly192Arg), not previously reported to be associated with disease. Her inflammatory markers improved over time. She was discharged on celiprolol for blood pressure control and close surveillance of aneurysms. An extended screen for the presence of aneurysms elsewhere showed a left vertebral artery aneurysm and dissection at the C4/5 intervertebral foramen on CTA head. Genetic testing was offered to her family members, especially her three sons.

Conclusion

Vascular EDS is under-recognised and should be in the differential diagnosis of non-inflammatory vasculitis mimics in patients presenting with arterial ruptures, dissections or aneurysms to avoid potentially harmful treatment with immunosuppressive therapy.

Disclosure

S. Yeoh: Grants/research support; Versus Arthritis (unrelated to this work). C. von Stempel: None. C. Thornton: None. S. Yalamanchili: None. J. Manson: None.