Stretch marks in esophagus may be sign of hypermobile EDS: Report
Physicians in Germany describe what they say is first such finding in hEDS
Stretch marks in the esophagus, the muscular tube that carries food and liquid into the stomach, are a potential new sign of hypermobile Ehlers-Danlos syndrome (EDS), according to a case report from Germany describing a woman in her 20s with hEDS — the most common form of the connective tissue disorder.
The report, “Esophageal Striae as a Possible Gastrointestinal Manifestation of Hypermobile Ehlers-Danlos Syndrome,” was published in the ACG Case Reports Journal.
Ehlers-Danlos syndrome is a group of genetic disorders marked by impairments in connective tissues, which provide structure to joints, skin, blood vessels, and other tissues and organs.
In hEDS, which affects approximately 1 in 5,000 to 1 in 20,000 individuals worldwide, patients have abnormally mobile joints and stretchy skin. Heart and swallowing problems also can occur. Unlike other forms of EDS, the exact cause of hEDS isn’t clear and diagnosis is based on clinical symptoms.
Now, a team of physicians from Wiesbaden, in Germany, described what they said was the first case of stretch marks in the esophagus as a sign of hypermobile EDS.
Endoscopy used to examine woman, 27, with hypermobile EDS
Their report described a woman, age 27, who developed progressive difficulties in swallowing both liquids and solid foods. Symptoms that had started earlier included muscle and joint pain, headache, and brain fog (a group of symptoms that affect how people think, remember, and concentrate).
Following neurological tests, including brain MRI scans and a spinal tap, the patient was diagnosed with postural tachycardia syndrome and migraine. Postural tachycardia syndrome is a condition characterized by a very quick increase in heart rate after getting up from sitting or lying down.
Rheumatologic tests showed joint hypermobility, as assessed with the Beighton score. Genetic tests for other EDS subtypes were negative. Based on these findings, the patient was diagnosed with hEDS.
Digestive symptoms included heartburn, a globus sensation, or the feeling of a lump in the throat, and chronic constipation.
[Finding such marks] should raise the suspicion of EDS in patients with typical clinical features.
On physical examination, the woman showed indented scars, joint hypermobility, and slightly hyperextensible skin, as well as stretch marks on the thigh and piezogenic papules — soft, skin-colored papules found on the feet and wrists.
An esophageal manometry, a measurement of pressure throughout the esophagus, confirmed impaired motility. Stretch marks, known as striae, were found in the esophagus via endoscopy, an exam that uses a thin tube to visualize the digestive tract.
According to the researchers, this “is the first report of an endoscopic finding of esophageal striae as a manifestation of [hEDS].”
Finding such marks “should raise the suspicion of EDS in patients with typical clinical features,” the team said.
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