28/07/2024
//HYPERMOBILITY//
The hypermobility spectrum is a collection of genetic connective tissue disorders where the range of motion in various joints are more than normal. The most researched of these are the Ehlers-Danlos variants of which there are 13 types. The 3 most prevalent types are :
• Hypermobile (hEDS)
Joint Hypermobility, Recurrent Joint Dislocations/Subluxations, Tendinitis, Chronic Pain
• Classical (cEDS)
Very elastic, fragile skin, poor wound healing, atrophic scarring
• Vascular (vEDS)
Blood vessel & organ fragility, severe bruising, cardiac valvular incompetence etc
These 3 are all inherited in an Autosomal Dominant genetic pattern, which means that both parents carry the gene.
The 10 remaining types are all extremely rare (1 in 1000000)
Various genes have been identified in human genome studies so far, in particular ones involved in the collagen pathways for Type I, III & V collagen such as COL1A1 & COL1A2, COL3A1, COL5A1 & COL5A2, but also others associated with auto-immune conditions such as MUC3A, genes involved in zinc metabolism such as ZNF717, and protein coding genes like RHBG etc
Diagnoses are made clinically based on specific sets of criteria and symptoms vary from person to person
Other conditions often co-morbid with these, dependent on which type a person has include things like PoTS/Dysautonomia, Poor/Abnormal Wound Healing, IBS, GERD, Dysmenorrhea, Prolapses & Reflux, Chronic Fatigue, Chronic Pain, Migraines, Depression, Anxiety, Insomnia, ADHD, ASD etc (see last slide)
