Rare Vascular Case of EDS Linked to Newly Identified Mutation

Rare Vascular Case of EDS Linked to Newly Identified Mutation
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Physicians should suspect vascular Ehlers-Danlos syndrome when a patient shows recurrent pulmonary complications and unusually thin skin and hypermobile joints, a case report suggests.

The patient was found to have a previously unknown gene mutation that affected a connective tissue protein, its investigators wrote.

Their report, “Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report,” was published in the journal BMC Pulmonary Medicine.

Ehlers-Danlos syndrome (EDS) comprises a group of genetic disorders that affect the connective tissue, which provides support to structures such as joints, blood vessels, and skin. Vascular EDS (vEDS) patients often have fragile skin, bruise easily, and are at higher risk of rupturing blood vessels. Some experience cardiac complications, but respiratory symptoms are not typically expected.

Researchers at The First Affiliated Hospital of Wenzhou Medical University, in China, detailed the case of a 24-year-old man who complained of feeling dizzy and of coughing up blood for six days prior to his visit. According to the patient, blood showed up intermittently in his sputum over the previous two years, but he had no history of infectious disease, occupational hazards, foreign travel, smoking, or drug use.

Upon physical examination, decreased lung sounds were evident on his right side. A following computed tomography (CT) scan revealed a pneumothorax, or a collapsed right lung, as well as several small lesions in his right lower lung lobe (cavitary lesions) and small masses called nodules in his left lung.

The patient stayed in the hospital for 12 days, during which a chest drain was used to resolve the pneumothorax.

Over the next five months, the man returned to the hospital three times due to shortness of breath, left-sided pneumothorax, as well as bilateral pneumothorax. His medical team then performed a video-assisted surgery of his lungs and chest cavity.

This more in-depth examination to determine the root cause of his condition revealed symptoms indicative of EDS.

The patient had thin and translucent skin, with visible veins on the underside of his feet. The skin of his face and forearm was more flexible than that of the average person (hyperflexibility), and his elbows and finger joints stretched back more than usual (a feature called hypermobility). Without evidence of other joint conditions, such as scoliosis or joint dislocations, these symptoms led the team to suspect vEDS.

Because EDS is a genetic condition, a sample of the man’s DNA was screened for possible mutations. A never-before reported mutation, NM_000090.3: c.2977G > A, was found in a gene called COL3A1. This gene codes for a type of collagen, a connective tissue protein.

Collagen, like all other proteins, is built of smaller molecules called amino acids. The mutation in this patient’s collagen swapped one amino acid for another, which can affect the protein’s function by damaging its structural integrity.

Skin fragility seen in EDS extends to arteries, which can lead to serious complications. The patient underwent MRI scans to evaluate possible arterial complications. No abnormalities were found.

One month after the surgery to resolve his recurrent pneumothorax, the man returned to the hospital due to a left-sided pneumothorax that was again treated with a chest tube. He was discharged and, according to the team, eight months later he “remains symptom-free and lives well, without a relapse of pneumothorax or new pulmonary lesions.”

Still, “vEDS remains a very rare and difficult diagnosis to determine,” the researchers wrote.

“When a patient initially presents with pulmonary complications, vEDS is usually not suspected. However, when a patient presents with recurrent pneumothorax, intrapulmonary cavities and nodular lesions, and a physical examination reveals thin and transparent skin, hypermobility of joints, vEDS should be considered,” they added.

The team also emphasized that given the severity and rapid progression of vEDS, a molecular diagnosis is crucial.

Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.
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Patrícia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.
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Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.
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