Hypermobile Ehlers-Danlos Syndrome

Epidemiology and Prevalence

The American College of Medical Genetics and Genomics notes that Hypermobile Ehlers-Danlos Syndrome (hEDS) is the most common type of Ehlers-Danlos Syndrome, with Marfan Syndrome occurring at a frequency of 2-3 cases per 10,000 population, making it less common than hEDS 3

The International Classification of the Ehlers-Danlos Syndromes recommends diagnosis based on the Beighton scale with age-dependent threshold values: ≥6/9 points for children pre-puberty, ≥5/9 points for adults under 50 years, and ≥4/9 points for adults over 50 years 1
The Ehlers-Danlos Society states that a triad of clinical signs includes joint hypermobility, pain, and other systemic manifestations 2
Up to 98% of patients with hEDS meet the diagnostic criteria for disorders of the gut-brain interaction 2
The European Society of Human Genetics notes that the connective tissue in hEDS is softer and less rigid than normal due to disorganization of collagen and elastin fibers 2
Asthenic syndrome and kyphotic deformity of the spine occur in 75% of cases 2
High palate, joint hypermobility, and earlobe elasticity are observed in 63% of cases 2
Up to 60% of patients with hEDS experience gastrointestinal symptoms 1

The American Heart Association states that Marfan Syndrome is caused by mutations in the FBN1 gene, encoding fibrillin-1, with over 1000 identified mutations 3
The prognosis is determined by progressive aortic dilatation, with a median survival of untreated patients of 40 years 3
Aortic root dilatation is detected in 60-80% of patients 3

The European Academy of Allergy and Clinical Immunology recommends that when suspecting Mast Cell Activation Syndrome (MCAS) in patients with hEDS, treatment with histamine receptor antagonists and mast cell stabilizers is advised 1
Activation of mast cells can cause inflammatory reactions in connective tissue, including fat tissue 1