From the Guidelines
Ehlers-Danlos syndrome (EDS) presents with a wide range of symptoms primarily affecting connective tissues throughout the body, including hypermobile joints, skin that is unusually stretchy and fragile, and chronic musculoskeletal pain, with vascular complications such as arterial rupture and aneurysms occurring in certain types 1. The most common presentations include:
- Hypermobile joints that can easily dislocate or subluxate
- Skin that is unusually stretchy, soft, and fragile with easy bruising and poor wound healing
- Chronic musculoskeletal pain Patients often experience:
- Fatigue
- Dizziness
- Autonomic dysfunction including postural orthostatic tachycardia syndrome (POTS) Gastrointestinal issues such as irritable bowel syndrome, gastroparesis, and reflux are common. Vascular complications may occur in certain types, including:
- Arterial rupture
- Aneurysms
- Organ rupture The severity varies widely between individuals, even within the same type of EDS and family. Diagnosis typically involves:
- Clinical evaluation of symptoms
- Physical examination for joint hypermobility using the Beighton score
- Family history assessment
- In some types, genetic testing to identify specific mutations, such as pathogenic variants in COL3A1 for vascular Ehlers-Danlos syndrome 1. However, the hypermobile type, which is the most common, currently has no identified genetic marker. Management focuses on:
- Symptom control
- Physical therapy to strengthen supporting muscles
- Pain management
- Preventive measures to avoid joint injuries and skin damage The 2022 ACC/AHA guideline for the diagnosis and management of aortic disease recommends careful handling of tissues and resewing of anastomoses with pledgeted sutures for surgical repair in vascular Ehlers-Danlos syndrome, and suggests the use of celiprolol or other beta blockers with vasodilatory properties for medical therapy 1.
From the Research
Presentation of Ehlers-Danlos Syndrome
The presentation of Ehlers-Danlos Syndrome (EDS) can vary depending on the type, but common features include:
- Joint hypermobility
- Soft and hyperextensible skin
- Abnormal wound healing
- Easy bruising
- Joint pains or recurrent dislocations
- Extra-articular symptoms such as anxiety disorders, chronic pain, fatigue, orthostatic intolerance, functional gastrointestinal disorders, and pelvic and bladder dysfunction 2, 3
Types of Ehlers-Danlos Syndrome
There are 14 different types of EDS, each with distinct characteristics:
- Hypermobile type: characterized by joint hypermobility, skin findings, and joint pains or recurrent dislocations 3
- Other types: caused by variants in 20 different genes, encoding fibrillar collagen types I, III, and V, modifying or processing enzymes for those proteins, and enzymes that can modify glycosaminoglycan chains of proteoglycans 2
Clinical Features
Clinical features of EDS can include:
- Joint hypermobility
- Skin findings such as hyperextensible skin and easy bruising
- Joint pains or recurrent dislocations
- Extra-articular symptoms such as anxiety disorders, chronic pain, and fatigue 3, 4
- Gastrointestinal disorders and pelvic and bladder dysfunction 3
Diagnosis and Management
Diagnosis of EDS is based on the 2017 International Classification of the Ehlers-Danlos syndromes, which includes criteria for hypermobile EDS and hypermobility spectrum disorders 3 Management of EDS consists of a care team responsible for surveillance of major and organ-specific complications, integrated physical medicine and rehabilitation, and patient education 2, 3 Physical therapy plays a central role in the management of individuals with hypermobility-related disorders, including EDS 4, 5, 6