Intro to Ehlers Danlos Syndrome

This week we discuss the basics about a topic several of our guests have spoken about- Ehlers Danlos Syndrome or EDS.   ​Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body. ​The Ehlers-Danlos syndromes received a major overhaul in 2017 and this is what we now know: EDS are heritable connective tissue disorders affecting the quality of collagen in every part of the body. There are now 13 recognized subtypes of EDS, 12 of which are genuinely rare and have the aberrant gene identified. Hypermobile EDS (hEDS) and hypermobility spectrum disorder (HSD) is by far the most common type; these conditions are part of a spectrum and the distinction is hoped to be useful for research, but is otherwise academic. hEDS/HSD is a multi-system disorder which can have a marked impact on health and which may help us to explain apparently mysterious multiple symptoms. Don’t let the changing terminology confuse you. 3.4% of the population have generalized joint hypermobility and chronic widespread pain (a proxy for the now obsolete diagnosis of joint hypermobility syndrome (JHS). Patients who in the past received a diagnosis of JHS (or Benign JHS), EDS-Hypermobility Type or EDS Type III would now be categorized as having hEDS or HSD. “If you can’t connect the issues, think connective tissues” Non-specific and medically unexplained symptoms are usually real and should not be dismissed It can be easy to make a big difference to the quality of life of some of your most complex patients with a few simple and inexpensive measures, but the journey starts with recognition. The median time from symptom onset to seeking a GP opinion is 2 years and the median time to diagnosis 10 years. If we make an early diagnosis and manage the conditions appropriately, there may be potential to reduce long term disability which can occur from EDS. Enquire about family members; these are hereditary disorders of connective tissue so positive family histories are common. Although no gene has yet been identified, hEDS is primarily of autosomal dominant inheritance. Children can present with symptoms of hEDS/HSD, including abdominal symptoms or growing pains. They may also present with neurodevelopmental disorders such as hyperactivity, inattention, dyspraxia, autistic spectrum disorder, sleep, and food issues, emotional problems, hypersensitivity and anxiety. A low Beighton score does not exclude hEDS/HSD,. Patients stiffen with age so their Beighton score may decrease, although pain may worsen. The extent of multi-system symptoms is not related to the Beighton score. Consider co-existing conditions; In recent years, we have begun to understand more about associated or co-morbid conditions which are frequently found in people with hEDS, including autonomic dysfunction (postural tachycardia syndrome (PoTS) and symptomatic low blood pressure), mast cell activation syndrome (MCAS) and gastrointestinal dysfunction. (Credits: GPTOOLKIT)