INTRODUCTION: Ehlers-Danlos Syndrome (EDS) is a connective tissue disease in which mutations in certain genes result in a disruption of normal collagen. There are several subtypes of the disease. Among the various subtypes which exist, hypermobility is the most common. Many of these patients can have co-existing gastrointestinal symptoms, which are often times overlooked by practitioners. CASE DESCRIPTION/METHODS: A 23 year old female presented with chest tightness, daily palpitations, and diarrhea which had been persistent for three days. Her past medical history was notable for spinal stenosis and lactose intolerance. She denied any associated abdominal pain, fever, or chills. Her family history was non contributory. One month later, she continued to have diarrhea and heartburn. She endorsed symptoms of mucorrhea with associated bright red blood per rectum, lower abdominal pain, and fecal urgency. A thorough physical examination revealed hyper flexible joints and greater than normal mobility of her fingers. After genetic testing, she was later diagnosed with Ehlers-Danlos Type 3. DISCUSSION: Up to 57% of patients with EDS have coexisting functional bowel disorders.1 Chronic gastrointestinal discomfort was reported in 86% of patients with Ehlers-Danlos – hyper mobile subtype.2 Gastrointestinal complications can include gastro esophageal reflux disease, hiatal hernia, gastritis, gastric emptying, irritable bowel syndrome (found in 62% of patients), rectal evacuatory dysfunction, and delayed colonic transit.1,2,4 Symptoms are thought to occur as a result of bidirectional signaling between gut bacteria and the brain. Enterochromaffin cells are not only accessible by enteric microbiota but also have contact with afferent and efferent nerve terminals acting as “transducers” between the gut and brain,8 able to secrete various compounds, including serotonin. One study showed that pretreatment of animals with probiotic formulation consisting of Lactobacillus helveticus R0052 and Bifidobacterium longum R0175 attenuated hypothalamic pituitary axis and autonomic nervous system activities, which were assessed through the measurement of plasma cortisol and catecholamines.10 In our patient, she was treated with a course of Rifaximin for IBS-D and was placed on a bowel regimen including a probiotic. At a four-week follow up, her symptoms had improved.
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