The pain may also be misdiagnosed as a behavior disorder or Munchausen by proxy.The pain associated with EDS ranges from mild to debilitating. Causes
Every type of EDS except the hypermobile type (which affects the vast majority of people with EDS) can be positively tied to specific genetic variation. Variations in these genes can cause EDS:
Collagen primary structure and collagen processing: ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
Collagen folding and collagen cross-linking: PLOD1, FKBP14
Structure and function of myomatrix: TNXB, COL12A1
Glycosaminoglycan biosynthesis: B4GALT7, B3GALT6, CHST14, DSE
Complement pathway: C1R, C1S
Intracellular processes: SLC39A13, ZNF469, PRDM5Variations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder. Inheritance patterns depend on the specific syndrome. Most forms of EDS are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause a disorder. A few are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected. It can also be an individual (de novo or "sporadic") variation. Sporadic variations occur without any inheritance. Diagnosis
A diagnosis can be made by an evaluation of medical history and clinical observation. The Beighton criteria are widely used to assess the degree of joint hypermobility. DNA and biochemical studies can help identify affected people.
Along with these general signs and side effects, patients can have trouble healing.Women who are pregnant should be warned about things such as pre-labor rupture of membranes, drop in blood pressure with anesthesia, precipitate birth (very fast, active labor), malposition of bleeding, and more. New mothers with hEDS should pay extra attention to taking care of their babies. Mothers may have trouble taking care of babies because of the risk of dropping a baby due to weak connective tissue in arms and legs, falling, postpartum depression (more than the general population), and healing from the birthing process. Genetics of Hypermobile EDS
While 12 of the 13 subtypes of EDS have genetic variations that can be tested for by genetic testing, there is no known genetic cause of hEDS. Despite the unknown gene, hEDS appears to follow an autosomal dominant pattern of inheritance. This means that in order to be affected, a person needs a mutation in only one copy of the responsible gene in each cell. This mutation can be inherited from a parent or a de novo (new) mutation. A person with hEDS has a 50% chance of passing their mutated gene on to their children.Recently, several labs and research initiatives have been attempting to uncover a potential hEDS gene. In 2018, the Ehlers–Danlos Society began the Hypermobile Ehlers–Danlos Genetic Evaluation (HEDGE) study. The ongoing study has screened over 1,000 people who have been diagnosed with hEDS by the 2017 criteria to evaluate their genome for a common mutation.