Hypermobile Ehlers-Danlos Syndrome With Prominent Gastrointestinal and Autonomic Involvement in a Latin American Patient: A Case Report
Abstract
Hypermobile Ehlers-Danlos syndrome (hEDS) is a common connective tissue disorder with multisystem involvement. In Latin America, late diagnosis and limited access to specialists complicate clinical management. We present the case of a 32-year-old woman clinically diagnosed with hEDS after more than 15 years of progressive symptoms. In addition to generalized joint hypermobility (Beighton 9/9) and chronic musculoskeletal pain, she exhibited significant gastrointestinal manifestations, including refractory constipation since childhood, episodes of diarrhea, multiple food intolerances, small intestinal bacterial overgrowth (SIBO) documented twice, and suspected delayed gastric emptying. Multiple fragmented medical evaluations, combined with the patient's persistence in seeking explanations and undergoing functional tests, ultimately allowed for a comprehensive diagnosis. Different targeted medications, stabilizing physiotherapy, an individualized exclusion diet, and nutritional support were implemented, achieving only partial improvement of symptoms. This case illustrates how dysautonomia, connective tissue dysfunction, and gastrointestinal and metabolic alterations interact in hEDS. The coexistence of nocturnal hypoglycemia deserves particular attention, given its potential cardiovascular impact. A comprehensive interpretation of electrocardiogram (ECG), tilt-test, SIBO, and glucose monitoring provides a more complete diagnostic approach. In patients with hEDS, a…
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