Successful Conservative Management of a Rare Surgical Complication of Vascular Ehlers-Danlos Syndrome: A Case Report



 

Giuseppe Mangiameli, MD, PhD1; Charles Al Zreibi, MD1; Abderrahmen Ammar, MD1; Alex Arame, MD1; Françoise Le Pimpec-Barthes, MD, PhD1

Perm J 2021;25:21.021

https://doi.org/10.7812/TPP/21.021
E-pub: 06/09/2021

Vascular Ehlers-Danlos syndrome is a hereditary disorder of the connective tissue characterized by a reduction in the production of type III collagen. Clinical evolution of the disease is unpredictable because vascular lesions can occur everywhere in the body. Bruising, arterial and bowel fragility, and uterine fragility during pregnancy are the most common symptoms. Thoracic surgeons should take with these patients because, in rare cases, thoracic complications may occur, such as recurrent pneumothorax or spontaneous hemothorax. We report an extra-pleural hematoma in a patient with vascular Ehlers-Danlos syndrome, an unusual complication treated successfully with conservative management.

CASE REPORT

A 50-year-old woman who was a nonsmoker was admitted to the emergency department for acute left scapular pain. There were no other symptoms. There was no history of recent trauma or injury. She had a significant medical history of vascular Ehlers-Danlos syndrome (vEDS) (mutation of COL3A1 complementary DNA) diagnosed in 1986 after a spontaneous sigmoid perforation at the age of 16 years, followed by 2 further spontaneous intestinal perforations in 1987 and in 1988. In addition, the patient had a pulmonary embolism in 2019, and she underwent an appendectomy and eardrum transplant a few years before presentation. Chest computed tomography (CT) showed the presence of a large extra-pleural hematoma extending from T6 to T11 with active arterial bleeding (Figure 1A). Forty-eight hours later, she was transferred to the coronary unit for treatment of hypertensive crisis. A new chest CT scan was acquired that confirmed the extra pleural hematoma with no signs of active bleeding (Figure 1B). Compared to 48 hours earlier, the patient’s hemoglobin level had decreased from 9.7 to 8.6 g/dL. Considering the absence of active bleeding, a conservative strategy with serial chest x-rays was adopted. Two consecutive chest x-rays confirmed the occurrence of increasing right pleural effusion. A surgical drain was placed. The level of dyspnea decreased after the removal of 900 mL of blood-tinged fluid. Chest x-ray and CT evolution during conservative management are summarized in Figure 2. Clinical follow-up and chest CT after 3 months did not show any sign of pleural effusion recurrence, but an arteriovenous fistula in the neck was detected. Table 1 presents all the salient clinical and management aspects of this case report.

tpj21021f1

Figure 1. Extra-pleural hematoma. (A) Chest computed tomography (CT) shows a mixed-density soft tissue masse in the left thoracic cavity and a leakage of contrast from an intercostal artery into the mass (arrow). (B) Chest CT control 48 hours later confirms the stability of the mass and the absence of contrast leakage.

tpj21021f2

Figure 2. Chest x-ray and computed tomography evolution during conservative management. A left chest tube was placed on June 2 (arrow).

Table 1. Timeline table

Date Summaries from initial and follow-up visits Diagnostic testing Interventions
May 26 Admission to emergency department for acute left scapular pain Hemoglobin, 9.7 g/dL; CT shows large extra-pleural hematoma extending from T6 to T11 with active arterial bleeding (Figure 1A) Monitoring
May 29 Hypertensive crisis Hemoglobin, 8.6 g/dL; CT confirms extra-pleural hematoma with no signs of active bleeding (Figure 1B) Transfer to ICU, observational conservative strategy (serial chest x-rays)
May 31 Absence of clinical symptoms Chest x-rays show a slight increase of right pleural effusion Monitoring
June 2 Oxygen therapy through nasal cannula at 1 L/min Chest x-rays show moderate right pleural effusion; CT shows any sign of pleural effusion recurrence; occurrence of a neck arteriovenous fistula Thoracic drain, follow-up program
September 10 3-mo follow-up

CT = computed tomography; intensive care unit.

Relevant past medical history and interventions: spontaneous sigmoid perforation in 1986 (16 y old), diagnosis of vascular Ehlers-Danlos syndrome (mutation of COL3A1 complementary DNA) in 1986, spontaneous intestinal perforations in 1987 and in 1988, appendicectomy and eardrum transplant in 2016, and pulmonary embolism in 2019.

DISCUSSION

EDS includes 13 hereditary connective disorders generally characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. vEDS is the most severe type, characterized by an autosomal-dominant defect in the COL3A1 gene responsible for reduced production of type III collagen.1 Type III collagen is a major protein composing the walls of blood vessels and hollow organs and, as a consequence, all patients with vEDS are exposed to life-threatening complications.2 Arterial aneurysms, dissections, and ruptures, as well as bowel perforations and uterine ruptures, can occur suddenly in these patients as a first manifestation or as a complication of a known disease. Several thoracic manifestations, such as pneumothorax or hemothorax, have been reported in the literature, occurring at a rate of 3.9% to 14%.3 The occurrence of hemothorax is usually reported as a consequence of internal thoracic or intercostal artery rupture. However, the occurrence of a major, spontaneous subpleural hematoma is rare, and we did not find any description in the English literature of vEDS presenting with a spontaneous extra-pleural hematoma.

The occurrence of an extra-pleural hematoma and the successful conservative management adopted is of importance. For our patient, the diagnosis of vEDS was known, which was an advantage in determining the patient’s care strategy, because the first diagnosis is often challenging and frequently overlooked because of its rarity and heterogeneous clinical presentation. The knowledge of a confirmed diagnosis of vEDS, and the absence of both active bleeding during the second chest CT and of deglobulization were all criteria that supported our choice of a conservative management strategy.

When a hemothorax or an extra-pleural hematoma occurs without any traumatic injury, vEDS should be considered in the differential diagnosis. Often these patients are scheduled for surgery and, during thoracoscopy, the easy bruising of the tissue by surgical manipulation leads to suspect connective tissue disease. Interestingly, in a recent case report, the authors described aortic dissection after a radiological interventional treatment performed in a patient affected by vEDS in whom a hemothorax occurred resulting from bleeding from the fifth intercostal artery.4

CONCLUSION

Our case is the first report in the literature of a particular clinical presentation of vEDS: a major extra-pleural hematoma. An extra-pleural hematoma such as all spontaneous nontraumatic hemothoraces should evoke a differential diagnosis of vEDS. On the other hand, when a diagnosis of vEDS is known, all invasive surgical or percutaneous procedures should be reevaluated in every case and, if conservative management is feasible, it represents a safe choice in selected cases of patients with vEDS.

Disclosure Statement

The author(s) have no conflicts of interest to disclose.

Financial Support

The authors received no financial support for this work.

Acknowledgments

We thanks Alessandra Micalizio for English language revision.

Author Affiliations

1Division of Thoracic Surgery and Lung Transplantation, Georges Pompidou European Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France

Corresponding Author

Giuseppe Mangiameli, MD, PhD (giuseppe.mangiameli83@gmail.com)

Author Contributions

Giuseppe Mangiameli, MD, PhD, participated in ideation and writing; Charles Al, MD, Zreibi, Abderrahmen Ammar, MD, and Alex Arame, MD, participated in the English revision; and Françoise Le Pimpec-Barthes, MD, PhD, supervised the work.

References

1. Malfait F. Vascular aspects of the Ehlers-Danlos syndromes. Matrix Biol 2018 Oct;71–72:380–95. DOI: https://doi.org/10.1016/j.matbio.2018.04.013, PMID:29709596.

2. Imp B, Mannarino S, Narayanan A. Management of spontaneous liver hematoma in Ehlers-Danlos syndrome type IV: A case report. Perm J 2020 Nov;24:1–4. DOI: https://doi.org/10.7812/TPP/19.132, PMID:33482943.

3. Shalhub S, Byers PH, Hicks KL, et al. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. J Vasc Surg 2020 Jan;71(1):149–57 DOI: https://doi.org/10.1016/j.jvs.2019.04.487, PMID:31353273.

4. Sakai K, Toda M, Kyoyama, H, et al. Vascular Ehlers-Danlos syndrome with a novel missense mutation in COL3A1: A man in his 50s with aortic dissection after interventional treatment for hemothorax as the first manifestation. Intern Med 2019 Dec;58(23):3441–7. DOI: https://doi.org/10.2169/internalmedicine.2983-19, PMID:31391389.

Keywords: hematoma, pleura, vascular Ehlers-Danlos syndrome

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