Brief report
Thromboembolic renal infarction due to a renal artery aneurysm in a patient with Ehlers-Danlos syndrome type IV

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Abstract

Type IV Ehlers-Danlos syndrome (EDS) is the only lethal form of EDS, mostly due to vascular complications. We describe a patient suffering from EDS type IV who presented with right thromboembolic renal infarctions due to a right renal artery aneurysm. We preferred observation to anticoagulation therapy because the thrombus in the renal artery aneurysm sealed the pending rupture of the arterial wall. This unusual embolic presentation of EDS exemplifies problematic aspects in the management of these patients.

Introduction

Ehlers-Danlos syndrome (EDS) is one of the most frequently inherited connective tissue disorders and is characterized by increased extensibility of the skin, hypermobility of joints, easy bruising and abnormal scarring. Ten types and several subtypes of EDS have been identified based on genetic and biochemical characteristics [1]. EDS type IV, the vascular type, is caused by a mutation in the COL3A1 gene that alters the synthesis of type III procollagen. Abnormalities in type III collagen, a major component of distensible tissues such as blood vessels and hollow viscera, are associated with spontaneous, catastrophic arterial bleeding [2].

We describe a patient with previously diagnosed EDS type IV who presented with thromboembolic renal infarctions due to a thrombotic renal artery aneurysm. This case represents a problematic aspect in the management of patients with EDS type IV in whom anticoagulation therapy, interventional angiography or surgical treatment could result in catastrophic complications.

Section snippets

Case report

A 39-year-old man with EDS type IV presented to the emergency room with acute onset of right flank colicky pain. His medical history included easy bruising since childhood and moderately increased hypermobility of the hand joints. At the age of 33, he was diagnosed with EDS type IV based on abnormal synthesis of type III procollagen molecules in cultured fibroblasts from a skin biopsy. At that time, whole-body CT angiography demonstrated a calcified splenic artery aneurysm 1.5 cm in diameter.

Discussion

EDS type IV is an autosomal dominant disorder that was first described by Andras Barbaras in 1967 [3]. It is a rare disorder with a prevalence estimated to be 1 in 105 to 106. The clinical diagnosis of this syndrome is made on the basis of four criteria: easy bruising, thin skin with visible veins, characteristic facial features, and rupture of arteries, uterus or intestines [1]. Diagnosis is confirmed by demonstration of abnormal type III procollagen synthesis by cultured fibroblasts or by the

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    Citation Excerpt :

    The most common type is the medial fibroplasias, it generally involves the middle and distal two-thirds of the main renal artery and in some cases it may extend into renal segmental artery branches, angiographically demonstrates “string-of-beads,” is usually diagnosed in young adults and is four times more frequent in women than in men [15]. Renal artery aneurysm in the pediatric age group are usually associated to intrinsic collagen deficiencies such as Ehlers-Danlos syndrome [18,19], Marfan syndrome [20], and phakomatoses such as tuberous sclerosis and neurofibromatosis [21,22,28]. Vascular or type IV Ehlers-Danlos syndrome is a rare autosomal dominant disorder resulting from mutations in the COL3A1 gene that alter the metabolism of Type III collagen.

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