Abstract: SA-PO297
Fibromuscular Dysplasia in a Patient with Vascular Type Ehlers-Danlos Syndrome Who Presented with Spontaneous Renal Artery Perforation
Session Information
- Trainee Case Reports - VI
October 27, 2018 | Location: Exhibit Hall, San Diego Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Reports
- 1402 Hypertension and CVD: Clinical, Outcomes, and Trials
Authors
- Nasir, Junaid, Albany Medical Center, Albany, New York, United States
- Bilal, Anum, Albany Medical Center, Albany, New York, United States
- Chaudhry, Rafia I., Albany Medical Center, Albany, New York, United States
- Salman, Loay H., Albany Medical Center, Albany, New York, United States
Introduction
Fibromuscular Dysplasia (FMD) is a rare segmental disease of small and medium sized arterial wall musculature. FMD is noninflammtory and nonatherosclerotic in nature and affects renal and internal carotid arteries in 75% of cases. Renovascular hypertension in young females is the most common presentation, while spontaneous dissection, bleeding and renal infarction is rare; however these are seen more often in males affected by FMD. We present a rare case of coexistent FMD and Ehers-Danlos Syndrome presenting as spontaneous renal artery dissection.
Case Description
A 44-year-old male presented to the ED with severe left flank pain. Patient was hypotensive (S.B.P 80 mmHg), in hemorrhagic shock and had AKI, Hb 9.8 gm/dL, Cr 1.69 mg/dL). CT angiogram abdomen revealed massive retroperitoneal bleed from left renal artery. Emergent laparotomy confirmed pseudoaneurysm from dissected left renal artery extending to sub-segmental arteries. Revascularization attempt was futile due to friability of the vessels and left nephrectomy was performed. Histologic evaluation of the kidney demonstrated marked fibrointimal thickening with hypocellular intimal sclerosis and focal cellular fibroplasia, medial hypertrophy, and abrupt broad regions deficient in internal elastic lamina. The severe fibro-obliterative renovascular disease findings were consistent with fibromuscular dysplasia, with features of both the medial fibroplasia and intimal type. Genetic testing was performed confirming pathogenic mutation in COL3A1 gene (c.1106G>T) diagnostic of Vascular Ehlers-Danlos Syndrome (vEDS).
Discussion
Spontaneous renal artery dissection is rare, and has been associated with FMD (especially in males), malignant hypertension, severe atherosclerosis, severe trauma, Marfan syndrome, or Ehlers-Danlos syndrome. vEDS has an Autosomal Dominant inheritance, and is the most severe form of EDS, increasing the risk of arterial aneurysm rupture. Co-existing FMD and vEDS of renal artery has not been described before. This case highlights the need for genetic testing of patients diagnosed with FMD, to rule out additional connective tissue disorders, as co-existence of both conditions can potentially increase the risk of life threatening complications.