Conservative Management of Massive Retroperitoneal Hemorrhage in a Patient with Vascular Ehlers-Danlos Syndrome: A Case Report

Abstract

Retroperitoneal hemorrhage in patients with vascular Ehlers-Danlos syndrome (vEDS) is uncommon, and its optimal management remains controversial because both surgical and endovascular interventions carry substantial risks. A 36-year-old man with vEDS presented with persistent upper abdominal pain. Computed tomography (CT) revealed a massive retroperitoneal hematoma, approximately 20 cm in size, with a pseudoaneurysm in a mesenteric artery branch but without contrast extravasation. Considering the potential complications associated with the intervention and the patient’s overall stable hemodynamic condition, a conservative management approach under careful supervision was selected. A follow-up CT revealed a reduction in hematoma size, and the patient was discharged after 19 days of hospitalization without complications. Conservative management of retroperitoneal hemorrhage in patients with vEDS may be considered a viable option in hemodynamically stable conditions.

INTRODUCTION

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and connective tissue fragility [1]. EDS comprises 13 subtypes, including vascular EDS (vEDS), which is among the most severe forms.

The prevalence of vEDS is estimated to range from 1 in 50,000 to 1 in 200,000 [2]. The gene responsible for vEDS has been identified as a mutation in type III collagen alpha 1 (COL3A1), which are usually inherited in an autosomal dominant manner [3]. Due to systemic collagen defects, patients with vEDS frequently present with life-threatening complications, including spontaneous aneurysm formation, arterial rupture and dissection, and perforation of the gastrointestinal tract [4]. Although surgical interventions are often necessary for these complications, surgery in patients with vEDS is challenging and best avoided whenever possible because of the fragility of the arteries, hollow organs, and other connective tissues [5,6]. This fragility is pathophysiologically explained by defective synthesis of type III collagen, which results in structurally weakened vessel walls that are thin and easily torn. Even minimal mechanical stress, such as catheter manipulation or surgical traction, can lead to arterial dissection or rupture [5,6]. This tissue fragility makes surgical procedures extremely challenging, as achieving effective hemostasis and secure suturing is often impossible.

This case report describes the successful conservative management of a massive retroperitoneal hemorrhage in a patient with vEDS. Institutional review board approval was not required under our institutional guidelines, and informed consent was obtained from the patient.

CASE

A 36-year-old man presented to our department with a 4-day history of upper abdominal pain. He had no history of abdominal trauma. Six years earlier, he had been diagnosed with vEDS through genetic testing when he underwent surgery for idiopathic lung hemorrhage and pneumothorax. Celiprolol was prescribed after the diagnosis. His height was 183 cm, body weight was 68 kg, and body mass index was 20.3 kg/m². Typical EDS features, such as skin hyperextensibility and joint hypermobility, were not observed. He was of Japanese ethnicity with no family history of vEDS or related vascular, pulmonary, or gastrointestinal disorders.

Upon arrival at our department, he was alert and hemodynamically stable, with a blood pressure of 111/53 mmHg, heart rate of 74 bpm, and respiratory rate of 21 breaths per minute. Physical examination revealed a large, soft, and non-tender mass in the upper abdomen. Laboratory results showed a hemoglobin level of 11.3 g/dL, white blood cell count of 4,100/µL, platelet count of 250,000/µL, d-dimer level of 4.8 µg/mL, and C-reactive protein level of 2.5 mg/dL. Abdominal ultrasonography demonstrated a large mass in the upper abdomen that could not be visualized entirely. Contrast-enhanced computed tomography (CT) revealed a mass approximately 20 cm in size in the retroperitoneal space and a pseudoaneurysm of a mesenteric artery branch without contrast extravasation (Fig. 1). The mass was identified as a hematoma with heterogeneous attenuation, showing Hounsfield unit values ranging from 9 to 70 (window level: 80; window width: 343).

Fig. 1.

Contrast-enhanced computed tomography findings on admission. (A) A large hematoma in the retroperitoneal space (arrowheads), measuring 20×15×9 cm. (B) The high-density area within the hematoma measured 70 Hounsfield units (window level, 80; window width, 343) (asterisk). (C) A small pseudoaneurysm from a branch of the mesenteric artery is visible within the hematoma (arrow).

Given the extremely high risk of endovascular or surgical intervention in vEDS and the patient’s stable condition, conservative management was chosen. He was admitted to the general ward rather than to the intensive care unit, considering his stable vital signs. Blood pressure was measured thrice daily and continuous heart rate monitoring was performed. Target values were set at a heart rate below 80 bpm and a systolic blood pressure below 140 mmHg to minimize vascular wall stress. As the patient remained hemodynamically stable, no medication was required to achieve these targets. Blood transfusion was planned if the hemoglobin levels fell below 8.0 g/dL.

On the 9th day of hospitalization, the patient’s abdominal pain suddenly worsened, although vital signs remained stable. Follow-up CT revealed a spontaneous rupture of the retroperitoneal hematoma into the peritoneal cavity with associated ascites; however, no contrast extravasation was observed (Fig. 2). As there was no significant drop in hemoglobin level or need for transfusion, rebleeding was considered unlikely. Instead, it was presumed that the existing hematoma had ruptured into the peritoneal cavity, leading to the transient symptoms. Owing to the absence of extravasation, conservative management was continued. Transcatheter arterial embolization was reserved as an option if active bleeding was identified.

Fig. 2.

Computed tomography (CT) findings on the 9th day of hospitalization. (A) Contrast-enhanced CT displayed a massive hematoma that had spontaneously ruptured into the peritoneal cavity and had markedly decreased in size (arrowhead). (B) Ascites were observed without contrast extravasation (arrow).

The patient’s abdominal pain gradually improved. Follow-up CT on the 17th day of hospitalization revealed a marked reduction in hematoma size, disappearance of the pseudoaneurysm, and near-complete resolution of the ascites (Fig. 3). The patient was discharged on the 19th day of hospitalization. No pharmacological hemostatic adjuncts were administered during the hospital stay. Transthoracic echocardiography revealed no apparent cardiovascular abnormalities.

Fig. 3.

Computed tomography (CT) findings on the 17th day of hospitalization. Follow-up CT demonstrated further reduction in hematoma size, with resolution of ascites (arrowheads).

To monitor the development of new arterial lesions, the patient underwent contrast-enhanced CT of the chest and abdomen every six months. Considering the potential for intracranial aneurysms, annual magnetic resonance angiography of the head was performed. At the one-year follow-up, no new vascular abnormalities or hemorrhagic events were detected. Considering the lifelong risk of vascular events in vEDS, lifelong outpatient follow-up was recommended.

DISCUSSION

This case highlights the successful conservative management of a retroperitoneal hemorrhage in a patient with vEDS. Among the EDS subtypes, vEDS carries the worst prognosis, with life-threatening complications such as arterial dissection or rupture, intestinal perforation, and uterine rupture [4]. These complications develop in >25% of patients by the age of 20 years and in >80% of patients by the age of 40 [7]. The average life expectancy is estimated to be approximately 50 years, largely because of vascular collapse [7].

Invasive examinations, such as angiography and endoscopy, should be avoided whenever possible owing to tissue fragility [5]. Additionally, both open and endovascular interventions are potentially challenging procedures for patients with vEDS and associated with significant procedure-related risks.

Reports of endovascular treatment for vEDS are limited, largely comprising small series and case reports [8]. Although endovascular interventions are less invasive than open surgery, it is also associated with poor postoperative outcomes. In a recent multicenter cohort of connective tissue diseases, survival after aortic intervention was lower in vEDS than in Marfan or Loeys-Dietz syndromes, with survival rates of 75.0% and 43.8% at 1 and 5 years in vEDS, respectively [9]. In our case, we decided not to perform angiography or endovascular intervention as the patient was hemodynamically stable and no contrast extravasation was observed. Instead, we closely monitored his condition. If the patient had experienced hemorrhagic shock due to aneurysm rupture, interventional radiology would have been considered as first-line method of achieving hemostasis.

vEDS is mostly diagnosed in individuals in their 20s based on clinical features or pathogenic variants; however, diagnosis in children or adolescents is not uncommon [10,11]. In our patient, the prior diagnosis of vEDS, established after surgery for lung hematoma and pneumothorax, enabled us to attribute the massive retroperitoneal hematoma to vEDS in the absence of trauma. If the patient had not been diagnosed with vEDS and had undergone surgical intervention for the hematoma, there was a high likelihood that the condition would have deteriorated. When a hematoma or pseudoaneurysm is detected in a patient with vEDS, conservative management may be a reasonable option for patients with stable general conditions. In this case, the absence of hemodynamic instability was likely due to the slow rate of bleeding. Bleeding may already have ceased by the time of follow-up CT imaging, which explains the lack of contrast extravasation. The rupture site was likely sealed by thrombus formation, resulting in apparent spontaneous resolution of the pseudoaneurysm. However, this clinical course should be interpreted with caution because the risk of rebleeding remains high. Furthermore, recurrence of hemorrhage must always be considered when patients are managed non-operatively.

In summary, conservative management may be a feasible option for massive retroperitoneal hemorrhage in hemodynamically stable patients with vEDS. Whenever possible, angiography and other invasive interventions should be avoided in vEDS owing to the high risk of complications.

Funding Statement

FUNDING None.