Assessment of lower limb swelling in a patient with Ehlers-Danlos syndrome

A 36-year-old woman with Ehlers-Danlos syndrome (EDS) presented with a painful, enlarged mass in the right lower limb prompting imaging. Here we present a case report of a rare complication and unique treatment option of a large right anterior tibial artery pseudoaneurysm caused by repetitive strain injury in a patient with EDS and clubfoot. congenital.

Introduction

Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder characterized by impaired collagen metabolism, primarily involving the joints, skin, and blood vessel wall. [1]. EDS can be classified into 13 different types based on 20 unique genetic mutations and varied clinical presentations. The most common clinical presentation includes joint hypermobility, skin hyperelasticity, and varying degrees of tissue fragility [1]. Vascular complications may result from EDS, more commonly with vascular EDS (type IV), and may include rupture of major blood vessels and organs [2].

The differential diagnosis of an expanding lower extremity mass or swelling is broad, but includes muscle spasm or hernia, deep vein thrombosis, edema, or hematoma. However, soft tissue tumors such as liposarcoma, angiosarcoma, and undifferentiated pleomorphic sarcomas should also be considered. This clinical case summarizes the clinical and imaging assessment of a young woman presenting with a painful and palpable mass of the right lower limb.

Presentation of the case

A 36-year-old female patient presented with an enlarged right lower limb that was tender and had a palpable mass reported on the anterolateral aspect of the right calf. Relevant medical history includes EDS (type unknown), spontaneous colon perforations, and right clubfoot deformity corrected with a rigid lower leg splint. She denies having a history of trauma to that area and has not experienced fever, chills, weight loss, or previous episodes of spontaneous hemorrhaging or bleeding.

On physical examination, the palpable abnormality is located adjacent to the contact site of the splint she wears for the clubfoot deformity which provides static dorsiflexion assistance and lateral stability for the entire foot- ankle.

Contrast-enhanced magnetic resonance imaging (MRI) of the right lower extremity demonstrated a 3.9 cm pseudoaneurysm (PSA) in the anterior compartment with pulsation artifact and surrounding hematoma measuring up to 13 .9cm (Figure 1). There was also a 7 cm segment of intramedullary enhancement affecting the adjacent tibia with surrounding nodular soft tissue enhancement.

An ultrasound-guided biopsy was performed on the nodular soft tissues to exclude underlying neoplasm. Pathology demonstrated an acute inflammatory process and a small reactive bone fragment with no signs of malignancy.

Given the concern for PSA in this patient, computed tomography angiography of the abdomen and pelvis with lower extremity discharge (Figure 2) was performed which revealed the PSA originating from the proximal segment of the anterior tibial artery (AT). Several other true fusiform aneurysms were identified in the visceral arteries, the right common femoral artery and the right peroneal artery.

Pseudoaneurysm

The patient was referred to interventional radiology for PSA embolization once malignancy was ruled out. Surgical management was postponed as the patient only had the option of amputation and was told there was a high risk of poor healing after surgery. As an alternative to amputation, endovascular embolization has been proposed.

Endovascular embolization was performed by direct access into the anterior tibial PSA and bidirectional embolization of the anterior tibial artery. Embolization of the proximal and distal anterior tibial artery occurred by retrograde and antegrade manipulation. This approach was chosen to avoid potential complications of non-target vessel manipulations in this patient with multiple additional aneurysms in the right lower limb attributed to the patient’s EDS. No coil was placed in the pseudoaneurysm to avoid a large coil mass that leads to late complications. Stagnant contrast was noted in the PSA at the end of the procedure (Figure 3A). Surveillance CT angiography at eight months showed no residual filling of the pseudoaneurysm (Figure 3B).

Post-embolization follow-up and eight-month follow-up

Discussion

The clinical evaluation and workup of a patient with EDS who presents with a painful lower extremity mass in the absence of trauma or clinical signs of blood loss can be challenging. However, some degree of suspicion is warranted as spontaneous lower extremity pseudoaneurysms have been reported in the literature. [3]. Vascular events resulting from the underlying EDS are well known in several types, although generally much more severe and more frequent when associated with type IV. Spontaneous rupture may be the first telltale sign, although PSA formation may remain subclinical for unknown periods of time [4].

Of the 13 variants, only four types can be confirmed by laboratory testing. This makes EDS classification a challenge in most cases [5]. In a previous literature review of 31 patients with vascular EDS, Cikrit et al. found that only five patients had symptoms suggestive of EDS before the vascular event [2].

When present, a pulsation artifact centered on the pseudoaneurysm can be a useful clue on MRI. This is particularly important as the degree of enhancement of the surrounding soft tissues and the abnormal signal may lead to an expanded differential diagnosis, including a soft tissue mass, as demonstrated in this case. [6].

Due to the fragility of the vessels, surgical and endovascular procedures should be treated with caution in this patient population. The complication rate for endovascular procedures was found to be as low as 2% in a retrospective single-institution study [7]. By comparison, complications from surgical procedures were found to be 33% in another retrospective study by Brooke et al. [8].

conclusion

Workup for palpable swelling in an EDS patient should include vascular pathology as well as soft tissue malignancies. Given the fragility of the vessels, endovascular versus surgical approaches to correcting vascular abnormalities in patients with EDS must be weighed against the risk of causing additional complications.

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