Ehlers-Danlos syndrome (EDS) is a group of relatively rare genetic disorders of connective tissue with EDS hypermobility type 3 being by far the most common. This disease has many complications, some of which may be easily overlooked. I report a case of nausea, vomiting, and diarrhea with gastroparesis in a patient with EDS that was misdiagnosed as infectious in etiology multiple times.

Case Presentation: A 44 year old female with a past medical history of hypermobility EDS, diagnosed five years prior to presentation (after experiencing an unexplained myocardial infarction with 100% patent coronaries), who presented with 3 days of nausea, vomiting, and mild intermittent diarrhea. This was the patient’s third visit to the hospital with watery, nonbloody, and self resolving diarrhea and nausea and vomiting that occurred hourly, especially after meals. The patient denied any sick contacts, travel, or consumption of undercooked or unpasteurized food. During the first admission, she had a CT of the abdomen which showed mild enterocolitis, was diagnosed with infectious colitis and discharged with ciprofloxacin and metronidazole. She returned to the hospital three weeks later with the same symptoms. Again, her stool studies were unremarkable and she was afebrile without any leukocytosis. However, she again was discharged on antibiotics but claimed that despite completing the full course, her nausea and vomiting did not improve. She went to see her outpatient gastroenterologist who performed an EGD and colonoscopy, both of which were normal. She returned to the hospital once more and underwent a gastric emptying study to rule out a functional cause of her nausea and vomiting. The results of the study were abnormal; her gastric emptying times were delayed. Four hours post initiation of the test, she had over 50% food content in her stomach, consistent with gastroparesis ( > 10%). It was deemed that her gastroparesis was due to Ehlers Danlos, therefore her antibiotics were stopped and she was managed with supportive care and symptom management. She was referred back to her gastroenterologist who started her on a pro-motility drug with good response.

Discussion: As connective tissue is present throughout the body, many different structures, including the digestive tract can be affected. Connective tissue in the digestive tract is essential to the passive mechanical movements needed to complete digestion and any abnormalities are likely to alter its movements, which could contribute to the range of symptoms experienced by EDS patients. Our patient presented with recurrent gastrointestinal symptoms in the setting of EDS, was misdiagnosed with an infectious etiology and treated multiple times in the same vein.

Conclusions: This case goes to show the importance of not anchoring onto a single, more commonly seen diagnosis, seeing the patient as a whole and considering all differentials, given the medical history and history of present illness.