020 Cardiovascular collapse on the ITU! Call the rheumatologist?!

Abstract

Background: Vascular Ehlers Danlos syndrome (vascular EDS) is a dominantly inherited genetic disorder which presents with arterial aneurysm, rupture or dissection and/or bowel or uterine rupture. It has an incidence of 1/50,000 - 1/200,000, with a median lifespan of 51 years. The diagnosis is confirmed by identification of mutations of COL3A1 gene, which codes for the production of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as the uterus, intestine and blood vessels. Methods: A 34-year-old Spanish male presented with acute left loin pain, vomiting and pyrexia. Past medical history included an episode of right renal colic four years earlier. He took no regular medication. Investigations revealed a leucocyte count of 16.5 x 109/L, creatinine 134umol/L and proteinuria. CT-KUB showed a normal left kidney and a shrunken right kidney. Amoxicillin and gentamicin were initiated for presumed pyelonephritis. Despite switching antimicrobial therapy, he developed band like upper abdominal pains and his CRP rose to 250mg/L. Two weeks later he complained of severe right upper quadrant pain followed by cardiovascular collapse. CT-aortography showed active bleeding from a large right hepatic AVM.There were also aneurysmal dilations of left renal artery, left common iliac artery and left hepatic artery with stenosis and post stenotic dilatation of the coeliac trunk and short segmental dilations of the right renal artery. Subsequent imaging revealed left and right internal carotid and vertebral artery dissections. Despite embolization of the intrahepatic AVM and left renal artery, he developed areas of hepatic infarction and necrosis of the left kidney with only the lower pole remaining vascularised by an accessory artery. He became anuric and required CVVH for two weeks. Results: Rheumatology review noted a stretched scar over the right knee but no evidence of hypermobility, easy bruising, skin lucency or family history of sudden death. He had no prodromal systemic symptoms in keeping with large vessel vasculitis. ANA and ANCA were negative. On the basis of the morphology and widespread arterial disease a presumptive diagnosis of vascular EDS was made, and he was commenced on metoprolol and doxazocin for blood pressure control. Subsequently a novel heterozygous frameshift mutation in the COL3A1 gene at c2996-3005delp (Gly999ValfsTer234) was found, consistent with the clinical presentation of vascular EDS. Conclusion: The rheumatologist is often involved in management of acute medical and surgical conditions, where a diagnosis of vasculitis is presumed. In this case the history, examination findings and imaging pointed away from systemic inflammatory aetiology. Management was supportive, focused on blood pressure control, enabling recovery and discharge. The goal of future care will be to minimise the likelihood of arterial events, by ensuring continued good blood pressure control, modulation of lifestyle to minimise injury, and support from a multidisciplinary team.