What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndromes (EDS/hEDS) are hereditary connective tissue illnesses that cause aberrations in collagen and other connective tissue proteins, causing structural and functional abnormalities. 

Connective tissues are specialized tissues in the body that can be found all over the body. In addition to holding structures together and supporting organs and the body, connective tissues store fat, move substances, fend off disease, and aid tissue healing.

With EDS, the proteins that build up connective tissue are faulty because of coding abnormalities within a person's DNA. Connective tissue abnormalities affect every body part, from joints and skin to the gastrointestinal tract. EDS does not only cause structural abnormalities. It affects the function of organ systems as well. 

Effects:

The various syndromes cause varied effects on the human body: 

  • joint hyper mobility 

  • joint instability

  • dislocations

  • scoliosis

  • joint deformities

  • hernias

  • organ prolapse 

  • periodontal and dental disease

  • eye disease

  • cardiac valve and aortic root abnormalities

  • life-threatening abdominal organ, uterine, or blood artery rupture

Types of Ehlers-Danlos syndromes:

Ehlers-Danlos syndromes have thirteen types. Genetic variations cause the condition in all subtypes except hEDS. Since the 2017 criteria were published, two more genes have characterized new EDS kinds. COL1A1/A2 gene variation overlapping EDS, AEBP1-related EDS, and Osteogenesis Imperfecta are examples.

Diagnosis: 

A patient's physical symptoms can be matched to the major and minor clinical criteria for each EDS type to determine the best fit. However, EDS San Francisco kinds often overlap, which makes it difficult for standard testing to determine the root causes. Genetic mapping is used to help determine which type of EDS a patient has, except hEDS. The specific genetic variation has yet to be discovered for hEDS and researchers continue to work to find its variants.

Clinical diagnosis

hEDS as well as other EDS types might be “clinically diagnosed." This can happen if a person meets all clinical criteria but has no molecular confirmation. Genetic specialists are still working on finding the specific gene marker for hEDS. Please note that EDS affects each person differently. Diagnostic criteria to identify EDS from other genetic connective tissue illnesses, and each EDS type has many additional symptoms that may seem unrelated and are in actuality considered now co-morbidities of EDS.

Is Hypermobility spectrum disease (HSD) a type of Ehler-Danlos Syndrome or h-EDS? 

Some persons suffer joint hypermobility, instability, damage, and pain similar to EDS. However, they do not exhibit systemic connective tissue dysfunction, which is the hallmark of EDS. These individuals do not have EDS or any other hypermobility-related connective tissue disorder like Marfan syndrome or Loeys-Dietz syndrome. 

When hypermobility, instability, and joint and muscle damage have no apparent cause, this is medically known as Hypermobility Spectrum Disease (HSD).  You may recieve an initial diagnosis of HSD. If your symptoms progress to include: tortuous colon, slow esophogeal function, skin tearing and/or slow skin repair time, Mast Cell Activation Syndrome, chronic migraines and/or history of scoliosis, please talk to your doctor again and see if your diagnosis may need changing. An EDS diagnosis affects how other healthcare providers will review your health and your needs going forward and greatly change the trajectory of your healthcare management. It can take up to 30 years to get a proper diagnosis due to the lack of training in the medical community around EDS. Substantial efforts are being made to expand knowledge and support to the EDS community. We are here to help.

Incidence of HSD:

A comprehensive medical record analysis suggests that 1 in 500-600 people have HSD. HSD may be missed or misdiagnosed, making it more frequent.

Ehlers-Danlos syndrome prevalence:

Ehlers-Danlos syndromes affect 1 in 3,500–5,000 people. The hypermobile version (hEDS) is the most prevalent and may be more common than that due to misdiagnosis as HSD.

Other EDS types are rare—1 in 40,000–200,000—and others are ultra rare —1 in a million. EDS can cause congenital disabilities and worsen with time in people of all races.

How is Ehlers-Danlos inherited?

Ehlers-Danlos syndromes are inherited autosomally dominant or recessively.

Ehlers-Danlos Syndrome prognosis?

There is no cure for Ehlers-Danlos syndrome. However, most people benefit from various treatments ranging from Dietary modification, Physical Therapy, Acupuncture, Cranial Sacral, and Stress Reduction techniques.

EDS in San Francisco East Bay is well versed in EDS and how it affects each person differently, and symptoms can vary widely within a family. Ehlers-Danlos syndrome type and individual affect prognosis. Vascular EDS (vEDS) and other unusual EDS can cause organ and vessel rupture and early death. Scoliosis that severely restricts breathing may raise lung disease risk and life expectancy. Gastrointestinal failure can cause failure in other organs. Most people who have EDS live average lifespans.