From the Guidelines
Ehlers-Danlos syndrome (EDS) is a rare autosomal dominant disorder characterized by easy bruising, thin skin with visible veins, characteristic facial features, and rupture of arteries, uterus, or intestines, with a median survival of only 48 years due to fatal arterial ruptures 1.
Key Characteristics
- Easy bruising
- Thin skin with visible veins
- Characteristic facial features
- Rupture of arteries, uterus, or intestines
Diagnosis and Management
The diagnosis of vascular Ehlers-Danlos syndrome is based on DNA or protein studies identifying a defect in type III collagen, encoded by the COL3A1 gene 1. Management focuses on preventing fatal complications, such as arterial rupture, and improving quality of life. Noninvasive vascular imaging is preferred to avoid fatal complications associated with invasive imaging in these patients 1.
Pregnancy and Delivery
Pregnancy in women with Ehlers-Danlos syndrome is high-risk due to rupture of the gravid uterus and vessel rupture at delivery or in the postpartum period, and close monitoring is essential 1. Postpartum hemorrhage may be severe, and incisions may heal slowly, requiring retention sutures 1.
Outcome and Prognosis
The outcome of pregnancy in women with Ehlers-Danlos syndrome is poor, and the median survival is only 48 years due to fatal arterial ruptures 1. Early diagnosis and comprehensive management can significantly improve quality of life and prevent complications, and genetic counseling is recommended for family planning 1.
From the Research
Definition and Characteristics of Ehlers-Danlos Syndrome
- Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and generalized tissue fragility 2.
- EDS can present with a variety of types of pain, and the mechanisms and treatments for pain are poorly understood 3.
- The syndrome comprises a group of diseases characterized by connective tissue fragility, with clinical symptoms primarily involving the skin, joints, blood vessels, and internal organs 2.
Types and Prevalence of Ehlers-Danlos Syndrome
- Hypermobile EDS (hEDS) is the most common subtype of EDS, characterized by multi-joint pain, particularly in large joints such as the shoulder 4.
- EDS has a prevalence as high as 1 in 5,000 individuals, predominantly affecting women 4.
Diagnosis and Management of Ehlers-Danlos Syndrome
- Diagnosing EDS is complicated due to clinical variability, imprecise diagnostic criteria, and lack of physician knowledge about this rare disease 2.
- Primary practitioners are capable of diagnosing and managing EDS, but few are knowledgeable and comfortable enough to see patients with EDS, resulting in delays in diagnosis and care 5.
- Providers need clinical practice guidelines, information on their roles in EDS management, and coordination with specialty care to improve diagnosis and care 5.
Treatment and Management of Symptoms
- Various treatment modalities, including physical therapy, occupational therapy, and complimentary/alternative treatments, have been used to manage EDS symptoms, with varying degrees of success 3.
- Kinesiology taping (KT) is an inexpensive and relatively safe intervention that can offer temporary improvements in pain and function for patients with EDS and shoulder pain 4.
- Skin fragility and wound management are critical aspects of EDS care, requiring preventative measures, protective dressings, and careful wound management to avoid further injury 6.