CHEST Guidelines-A-34-Year-Old-Man-With-Fragile-Vessels-and-Recurre

A-34-Year-Old-Man-With-Fragile-Vessels-and-Recurre

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A 34-year-old man experienced recurrent hemoptysis, severe dry cough, and low-grade fever over five months. Despite various treatments, his condition persisted. His medical history includes childhood bruising, a family history of cerebral aneurysm, and prior surgeries, including an appendectomy and recovery from a cerebral hemorrhage. Physical examination revealed translucent skin, prominent eyes, joint hypermobility, and varicose veins. Imaging demonstrated lung nodules with cavities, but tests such as bloodwork, pulmonary angiography, bronchoscopy, and a CT scan ruled out common conditions like infection or embolism.<br /><br />The symptoms, history, and physical signs led to a diagnosis of Vascular Ehlers-Danlos Syndrome (vEDS), a severe type of Ehlers-Danlos syndrome, a group of inherited connective tissue conditions. The syndrome predisposes individuals to spontaneous arterial ruptures and other complications, often causing early mortality. Identifying vEDS can be challenging due to its diverse initial symptoms. In this case, genetic testing confirmed a COL3A1 mutation, confirming vEDS.<br /><br />During pulmonary angiography, the patient had a severe coughing episode with hemoptysis, and subsequent imaging revealed an artificial pseudoaneurysm, which was treated with gelatin sponge embolization to stop the bleeding. This complex case highlights the need to consider vEDS when patients present with connective tissue manifestations and requires careful consideration of the risks associated with diagnostic tests due to the patient's fragile vessels. Treatment options are limited, and supportive care is essential. The patient's condition improved post-treatment, but monitoring continues due to the high risk of further vascular complications inherent with vEDS. <br /><br />Overall, this case underscores the importance of recognizing the signs of vEDS and exercising caution in interventions that may exacerbate vascular instability.

Keywords

Vascular Ehlers-Danlos Syndrome

vEDS

hemoptysis

COL3A1 mutation

connective tissue

pseudoaneurysm

genetic testing

arterial ruptures

gelatin sponge embolization

vascular complications