Ehlers-Danlos syndromes disorders can run in families and vary in how they affect the body and their genetic causes. They are typically characterized by joint hypermobility (joints moving beyond the normal range of motion), skin hyperextensibility (stretching more than usual), and tissue fragility.
Currently, Ehlers-Danlos syndromes (EDS) are classified into thirteen subtypes. For each subtype of EDS, a set of clinical criteria help make the diagnosis; a patient’s physical signs and symptoms are compared against the major and minor criteria to identify which subtype they most fit.
There is considerable overlap in symptoms of EDS subtypes and other connective tissue disorders, including hypermobility spectrum disorders, as well as a high degree of variability.
Definitive diagnosis of all EDS subtypes in Mutation genes (all except hypermobile EDS) has been identified and also requires confirmatory testing to determine the causative variant in the gene in question in each subtype.
What are the symptoms of Ehlers-Danlos syndromes?
The clinical manifestations of Ehlers-Danlos syndrome are usually related to the joints and skin and may include:
Joint hypermobility; loose/unstable joints prone to frequent dislocation and subluxation; joint pain; hyperextensible joints.
Soft and velvety skin; variable hyperextensibility; fragile skin that tears easily or is prone to bruising (which can be severe). Severe scarring; poor and slow wound healing; development of molluscoid pseudotumors (fleshy lesions associated with pressure point scars).
Early-onset debilitating chronic musculoskeletal pain (usually associated with the hypermobile type); arterial/intestinal/uterine fragility or rupture (traditionally associated with the vascular type). Congenital scoliosis and sclerotic fragility (associated with the kyphoscoliotic type); low muscle tone.
If you build a house with faulty materials, say using half the wood needed or lightweight aluminum nails, problems will arise. Some issues are more likely than others, but since those materials have been used everywhere and don’t have to be visible, Something very similar happens with Ehlers-Danlos syndromes and connective tissue.
With poorly constructed or processed connective tissue, all or part of EDS-affected body tissue, it can be stretched beyond normal limits, causing damage.
The problems derived from the body being built with a protein that behaves in an unstable way can be of different kinds, and their level of severity can vary.
They appear in seemingly unrelated places until their underlying connection to Ehlers-Danlos syndrome is identified.
A person with Ehlers-Danlos syndrome of the vascular type will not have a child with Ehlers-Danlos syndrome of the classic style; more information on the different types of Ehlers-Danlos syndrome.
Diagnoses are important because, although EDS/HSD cannot be cured, it can be treated. Knowing what type of SED/HSD it is will help you and your medical team determine why they are happening. When there is finally a cure, you will know it, and you will be able to use it.
The path to diagnosing an EDS/HSD begins with a checkup. There may be physical tests: use of the Beighton scale to assess joint mobility, an exam to look for abnormal scarring, and skin tests to determine Your medical history will likely be checked for diseases and problems associated with SED/HSD, and you will be asked about your family to help determine if SED/HSD has been inherited.
Diagnosis of an EDS subtype comes from finding the most closely matches your symptoms. However, clinical criteria help guide the diagnosis; signs and symptoms are compared against the major and minor criteria to identify which subtype they fit the most.
There is considerable overlap in symptoms of EDS subtypes and other connective tissue disorders, including HSDs, as well as a high degree of variability, such that definitive diagnosis of all EDS subtypes in which EDS has been identified gene mutation (all except hypermobile EDS) also requires confirmatory testing to determine the causative variant in the gene in question in each subtype.
With hypermobile EDS at one end of the spectrum, hypermobility and all related symptoms and conditions should be seriously considered. HSD cannot be less relevant than hypermobile EDS, neither for your health nor for your interest in treatment. Here you can find the diagnostic criteria for the 13 subtypes of EDS.
How are Ehlers-Danlos syndromes inherited?
The two inheritance patterns for Ehlers-Danlos syndromes include autosomal dominant inheritance and autosomal recessive inheritance. Regardless of the inheritance pattern, we cannot choose which genes we pass on to our children.
What is the outlook of Ehlers-Danlos syndrome?
The outlook depends on the type of Ehlers-Danlos syndrome and the person. Life expectancy may be shorter for those with vascular-type Ehlers-Danlos syndrome due to the possibility of ruptured vessels and organs.
The other types do generally not affect life expectancy. For example, there may be a higher or lower level of severity within a family, but the case of each person with Ehlers-Danlos syndrome will be unique. Although there is no cure for Ehlers-Danlos syndromes, treatments for symptoms and prevention measures work for most people.