Hypermobile Ehlers–Danlos Syndrome With Prominent Gastrointestinal and Autonomic Involvement in a Latin American Patient: A Case Report

TL;DR

A 32-year-old woman in Latin America was diagnosed with hypermobile Ehlers-Danlos syndrome after 15 years of symptoms, including gastrointestinal and autonomic issues.

Contribution

This case highlights the importance of a multidisciplinary approach for diagnosing and managing hEDS in Latin America.

Findings

The patient exhibited significant gastrointestinal symptoms, including SIBO and delayed gastric emptying.

A multidisciplinary strategy, including metabolic assessment, is essential for managing hEDS.

Nocturnal hypoglycemia in hEDS patients may have cardiovascular implications.

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 multidisciplinary strategy is essential, including a metabolic assessment. Clinical and public awareness, as well as improved diagnostic access in Latin America, remain critical priorities.

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