Which of the following connective tissue disorder is associated with gastroesophageal reflux?
**Core Concept**
Ehlers-Danlos syndrome (EDS) is a group of genetic disorders affecting the body's connective tissue, leading to skin hyperextensibility, joint hypermobility, and tissue fragility. Gastrointestinal manifestations, including gastroesophageal reflux disease (GERD), are common in patients with EDS due to the weakening of the lower esophageal sphincter.
**Why the Correct Answer is Right**
The association between EDS and GERD is attributed to the impaired collagen production and reduced tensile strength of the lower esophageal sphincter, allowing for easier reflux of gastric contents into the esophagus. This is particularly relevant in the classic and hypermobile subtypes of EDS, where the joint and skin manifestations are more pronounced. The weakened esophageal sphincter can also contribute to the development of hiatal hernias, further exacerbating GERD symptoms.
**Why Each Wrong Option is Incorrect**
**Option B:** Sjögren's syndrome is primarily an autoimmune disorder affecting the exocrine glands, particularly the salivary and lacrimal glands, and is not typically associated with gastroesophageal reflux. While patients with Sjögren's may experience gastrointestinal symptoms, these are more related to malabsorption and dyspepsia rather than GERD.
**Option C:** Marfan syndrome is another genetic disorder affecting the body's connective tissue, primarily affecting the cardiovascular and ocular systems. While patients with Marfan syndrome may experience gastrointestinal symptoms, these are not typically associated with gastroesophageal reflux.
**Option D:** Osteogenesis imperfecta is a genetic disorder affecting the production of collagen, leading to bone fragility and osteoporosis. While patients with osteogenesis imperfecta may experience a range of systemic symptoms, gastroesophageal reflux is not a characteristic feature of this disorder.
**Clinical Pearl / High-Yield Fact**
In patients with EDS, the presence of gastrointestinal symptoms, including GERD, should prompt a thorough evaluation for other associated systemic features, such as joint hypermobility and skin hyperextensibility. A high index of suspicion for EDS is essential in patients with unexplained gastrointestinal symptoms, particularly in the context of a positive family history.
**Correct Answer: C. Ehlers-Danlos syndrome**