Presentation of Ehlers-Danlos Type IV with Malignant Hypertension and Renal Artery Aneurysms

Background: Ehlers-Danlos Type IV (EDS-IV) is a rare genetic condition causing defective type III procollagen synthesis. This mutation can be inherited or it can occur spontaneously. These patients present with arterial catastrophes, including dissection, rupture and/or aneurysm formation. Unfortunately, mortality is frequent due to the extreme friability of the tissues in these patients.
Methods: A thirty-five year-old, male, non-smoker transferred to our institution with malignant hypertension and renal insufficiency. Systolic pressure was above 220 mmHg, requiring intravenous infusion of nitroprusside for control. Imaging from the transferring institution demonstrated flow disturbances in the bilateral renal arteries. Due to the patient's elevated creatinine (1.6 mg/dl), we performed angiography, to provide treatment for presumed stenoses at the same setting. The left renal artery had a string of beads appearance and stenoses at the level of the renal artery bifurcations. The right had a dual renal artery system. The right main renal artery had an aneurysm at the hilum and the accessory artery had a dissection flap and a large distal aneurysm. A presumptive diagnosis of fibromuscular dysplasia was assigned, and the left sided stenoses were successfully angioplastied. The right system was inappropriate for endovascular treatment and an operative bypass was planned.
During the surgical exposure, extensive fragility of the tissues was noted. Specifically, the tissues would not hold suture and gentle dissection of the two right renal arteries resulted in large defects from minimal handling. The bypass plan was aborted and a right nephrectomy was performed. The wound was packed for hemostasis and the next day returned to the OR for inspection and final closure. Post-operative course was uneventful and the malignant hypertension resolved. He did have chronic renal insufficiency (creatinine of 3 mg/dl) and eventual formation of a large incisional hernia. He has not required dialysis in four years of follow-up, and periodic full body MRI has not identified new arterial pathology.
Results: A skin biopsy with fibroblast culture was performed. These samples were sent to the University of Washington for analysis. The amount of type III procollagen secreted by the cells was diminished. Also, a mutation in the COL3A1 gene was identified, and the diagnosis of EDS-IV was confirmed.
Conclusions: The presentation of EDS-IV with malignant hypertension and renal artery aneurysms and stenoses is exceedingly rare. In addition, successful treatment of the renal artery stenoses on the left utilizing endovascular techniques is notable, and has allowed this patient to remain free from dialysis in long-term follow-up, despite the loss of the right kidney. EDS-IV patients should be treated conservatively, if possible. Endovascular techniques may offer less morbidity and mortality compared to surgery, and if surgery is required then it is recommended to focus on simple artery ligation as opposed to reconstruction.