Multiple Vascular Complications in a Single Patient
ABSTRACT: We report an unusual case of a patient with vascular Ehler-Danlos syndrome. This condition is significant because of the possibility of multiple vascular complications that result from increased vascular fragility.
VASCULAR DISEASE MANAGEMENT 2012:9(7):E109-E112
A 33-year-old male presented with persistent abdominal pain for a month. He had a past history of a blunt trauma to the abdomen many years ago with superficial injuries to the right lower limb. A CT scan of the abdomen done elsewhere showed a dissection of the abdominal aorta associated with a left-sided perinephric hematoma. His abdomen was soft to palpation with tenderness on the left lumbar region. His hemoglobin level was 8 gm%. Serum biochemical tests were normal. He did not have any relevant family history.
CT angiography (CTA) showed an aortic dissection, which extended from below the level of the superior mesenteric artery to the aortic bifurcation (Figures 1A and 1B). A 16 mm x 18 mm pseudoaneurysm was seen arising from a branch of the right hepatic artery (Figure 1C). There was also an arteriovenous fistula between the left hepatic artery and the left branch of the portal vein (Figures 2A and 2B). A loculated pleural effusion was seen along the posterior aspect of the left chest wall and within the major fissure. Multiple large subpleural bullae were present in both lungs. The coexistence of multiple unusual vascular complications and subpleural bullae in the lungs raised the possibility of a connective tissue disorder. Further physical examination revealed a high arched palate, clubbing, and an increased arm span:height ratio (168:163). There was no hypermobility of joints or hyperextensibility of skin. Serum markers for vasculitis were negative. The possibility of vascular Ehler-Danlos syndrome (VEDS) was considered.
A digital subtraction angiography (DSA) was performed (Figure 3A) and the pseudoaneurysm arising from the right hepatic artery was embolized (Figure 3B) with two 0.18 coils (platinum fibered coils, Boston Scientific/Target Therapeutics) and he was discharged in a stable condition. Three days later, he presented with acute abdominal pain, pallor, and tachycardia. His hemoglobin level was 7.8 gm%. CTA revealed increased dilatation and dissection of the celiac trunk and common hepatic artery (Figure 4) associated with a right-sided perinephric hematoma. He was managed conservatively, given blood transfusions, and discharged on recovery. However, he presented 5 days later with acute abdominal pain, distension, tachycardia, and hypotension. He required intubation and inotropic supports in the intensive care unit. A repeat CT angiography showed aneurysmal dilatation of the celiac trunk and common hepatic artery and extension of the dissection associated with a large pseudoaneurysm (Figure 5). Repeat DSA was done on an emergency basis (Figure 6A) and the aneurysmally dilated common hepatic artery was embolized with 20% Histoacryl glue (Figure 6B). There was no filling of the pseudoaneurysm in the post-embolization angiogram. The patient improved and was discharged when he stabilized a few days later. He died at home a week later.
VEDS is a rare connective tissue disorder and represents less than 4% of all types of Ehler-Danlos syndromes.1 It affects medium- and large-sized arteries and is characterized by increased tissue fragility complicated by arterial, intestinal, and uterine rupture.1 This condition occurs due to a heterozygous mutation in the COL3A1 gene leading to reduced production of type 3 procollagen and results in increased vascular fragility.1
The classic clinical features of VEDS are characteristic facial features, acrogeria, skin thinning, and easy bruising, but these may not always be present.2,3 Positive family history is not always seen. Being an autosomal dominant trait, genetic counseling of close family members is suggested for early diagnosis. The diagnosis is often suspected when a patient presents with multiple vascular complications, which include carotid, vertebral, visceral, and iliac arterial aneurysms and ectasia, dissection, rupture, and carotid cavernous fistula.2,4 Pulmonary manifestations are rare and include subpleural bullae, cavities, and cyst formation with the possibility of spontaneous pneumothorax.5 The presence of an arteriovenous fistula between branches of the hepatic artery and the portal vein as seen in the present case is a very rare vascular complication, reported only once elsewhere in the literature.6 Complications are rare in childhood and first complication is usually seen between 20 and 40 years of age.7
The clinical diagnosis of VEDS is made based on various major and minor criteria.2,3 The disease is confirmed by demonstrating quantitatively or qualitatively reduced procollagen 3 production by the cultured fibroblast from skin biopsy specimen. The mutation in the COL3A1 gene could also be detected for diagnosis.3 Other connective tissue disorders that can present with vascular complications are Marfan syndrome and Loeys-Dietz syndrome.3 Aortic aneurysm is a typical finding in both these syndromes. Although we couldn’t confirm this diagnosis in the present case using genetic analysis or skin biopsy, the coexistence of multiple unusual spontaneous arterial complications, subpleural bullae, and some clinical features like high arched palate and young age at presentation was used to make the clinical diagnosis.
Non-invasive imaging such as ultrasonography, CT scan, and MRI is the best modality to evaluate a patient with VEDS.2-4 Early detection by non-invasive imaging and close follow-up is the main strategy for vascular complications in a case such as this. Elective surgery or endovascular intervention is not recommended.2,3
In the present case, we embolized the pseudoaneurysm in the right hepatic artery to prevent a catastrophic bleed at a later date. Endovascular coil embolization of the pseudoaneurysm in the right hepatic artery was followed by complications such as dissection of the celiac axis and common hepatic arteries and the presence of another pseudoaneurysm.
The presence of a condition such as VEDS should be suspected when a young patient presents with multiple unusual vascular complications in the absence of any significant trauma. An awareness of this condition and early diagnosis would help to avoid various complications that could result from the increased vascular fragility. DSA or conventional angiography should be reserved for emergency endovascular intervention since these procedures are associated with increased complications, morbidity, and mortality.
- Cikrit DF, Glover JR, Dalsing MC, Silver D. The Ehlers-Danlos specter revisited. Vasc Endovascular Surg. 2002;36(3):213-217.
- Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007;2:32.
- Watanabe A, Shimada T. Vascular type of Ehlers-Danlos syndrome. J Nihon Med Sch. 2008;75(5):254-261.
- Zilocchi M, Macedo TA, Oderich GS, Vrtiska TJ, Biondetti PR, Stanson AW. Vascular Ehlers-Danlos syndrome: imaging findings. Am J Roentgenol. 2007;189(3):712-719.
- Herman TE, McAlister WH. Cavitary pulmonary lesions in type IV Ehlers-Danlos syndrome. Pediatr Radiol. 1994;24(4):263-265.
- Sherry RM, Fisch A, Grey DP, Lubbock CA. Embolization of a hepatoportal fistula in a patient with Ehlers-Danlos syndrome and colon perforation. Surgery. 1992;111(4):475-478.
- Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342(10):673-680.
From the 1Department of Radiology and the 2Department of Vascular Surgery, Christian Medical College, Vellore, Tamil Nadu, India.
Disclosure: The authors have completed and returned the ICMJE Form for Disclosure of Potential Conflicts of Interest. The authors report no conflicts of interest regarding the content herein.
Manuscript received November 30, 2011, final version accepted January 5, 2012.
Address for correspondence: Dr Shyamkumar Nidugala Keshava, Professor, Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India. Email: firstname.lastname@example.org