Systemic collagenopathy: vascular type of Ehlers-Danlos syndrome with successful bilateral sequential thoracoscopic pleurectomy
Abstract
Systemic collagenopathies are the group of inherited connective tissue disorders caused
by disturbances of the synthesis and/or disintegration of the collagenes, and manifesting
by a failure of the elastic properties in the connective tissue structures of the skin, skeleton,
blood vessels, heart valves, lung, intestine, and other internal organs. Surgical treatment
of the clinical symptoms may often be associated with a high risk of the recurrence and postoperative complications. Here we present a case of the successful step-wise surgical treatment of the patient with vascular type of the Ehlers-Danlos syndrome and recurrent spontaneous pneumothorax. The diagnosis was confirmed by molecular genetic testing. Heterozygous mutation p.Gly939Asp in the COL3A1 gene was found. Thoracoscopic left-sided sublobar lung
resection of the upper lobe and subtotal parietal pleurectomy were performed as the first stage
of the treatment. However the patient had required further surgical treatment because of
the recurrence of the spontaneous pneumothorax on the right side. The article discusses the
importance of timely etiologic diagnosis of the disease, as well as the need for regular assessment of the bronchopulmonary system after surgical treatment, especially for high-risk
patients.
Keywords:spontaneous pneumothorax, inherited connective tissue disorders, Ehlers- Danlos syndrome, collagen, COL3A1, DNA diagnostics, pleurectomy
Clin. Experiment. Surg. Petrovsky J. 2017; 5 (4): 51–8.
DOI: 10.24411/2308-1198-2017-00007
Received: 01.07.2017. Accepted: 10.10.2017.
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