From the Guidelines
Ehlers-Danlos syndrome type 3 (hypermobility type) follows an autosomal dominant inheritance pattern, meaning a person with this condition has a 50% chance of passing it on to each of their children. This condition is characterized by joint hypermobility, chronic pain, and skin elasticity, with a complex genetic basis involving mutations in several genes, including those affecting collagen and connective tissue structure 1. The diagnosis of EDS type 3 typically relies on clinical evaluation of symptoms, as genetic testing is less useful due to the lack of a clear genetic marker for this particular type 1.
Key Characteristics of EDS Type 3
- Joint hypermobility confirmed by a score of 5 or more on the 9-point Beighton scale
- Soft or velvety skin with normal or slightly increased extensibility
- Absence of skin or soft tissue fragility
Inheritance Risks and Management
If you have EDS type 3 or have a family member with the condition, genetic counseling is recommended before family planning to understand the inheritance risks and management options. The variable expression of symptoms, even within families, means that affected individuals may experience different severity levels of the condition 1. Patients with hEDS and HSD, which include those with EDS type 3, often experience a range of gut disorders, autonomic dysregulation, and poorer quality of life 1.
Clinical Evaluation and Diagnosis
The diagnosis of EDS type 3 is based on clinical evaluation of symptoms, including joint hypermobility, chronic pain, and skin elasticity. The Beighton scale is used to assess joint hypermobility, and the absence of skin or soft tissue fragility helps to distinguish EDS type 3 from other subtypes 1. A comprehensive clinical evaluation is essential for accurate diagnosis and management of EDS type 3.
From the Research
Ehlers-Danlos Type Three Inheritance
- The inheritance pattern of Ehlers-Danlos Type Three, also known as Hypermobile Ehlers-Danlos Syndrome (hEDS), is not fully understood due to the lack of a known genetic mutation to aid in diagnosis 2, 3, 4.
- hEDS is believed to be inherited in an autosomal dominant pattern, but the genetic basis of the condition remains unknown 2, 4.
- Research suggests that the variability in symptoms and severity of hEDS may depend on age, gender, lifestyle, and expression domains of the EDS genes during development and postnatal life 4.
- The current literature on the genetics of hEDS is limited, and more research is needed to understand the molecular genetic basis of the condition 5.
Key Characteristics of hEDS
- hEDS is characterized by generalized joint hypermobility, musculoskeletal manifestations, and mild skin involvement, along with the presence of several comorbid conditions 4.
- Clinical features of hEDS include joint hypermobility, skin findings, and joint pains or recurrent dislocations, as well as extra-articular symptoms such as anxiety disorders, chronic pain, fatigue, and orthostatic intolerance 2, 3.
- Diagnosis of hEDS relies solely on clinical examination, as there is no confirmatory genetic testing available due to the unknown molecular aetiology of the condition 5.
Management and Treatment of hEDS
- The central goals of therapy for hEDS are managing symptoms, preventing joint injury, and educating patients about their condition 2.
- Treatment approaches may include physical and occupational therapy, psychological support, and self-management, as well as non-opioid medications for pain management 2, 6.
- Opioids should be used cautiously in hEDS patients due to connective tissue vulnerabilities and potential side effects, and personalized plans for opioid tapering may be necessary for those on long-term opioid therapy 6.