What are Ehlers-Danlos syndromes?
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders that affect many organic systems. Depending on the type of EDS, the signs are hematoma proneness, slow wound healing, hyperextensible skin, joint hypermobility and fragility of connective tissue demonstrated by fragility of internal organs and blood vessels. The EDS group consists of different disorders and the genetic basis is known in 12 of the 13 types.
Inheritance can be autosomal dominant (usually the result of structural defects in genes encoding collagen) or autosomal recessive (often comprising genes encoding collagen modifying enzymes).
The arrival of sequencing of the next generation allowed the identification of new genes in the rarer types of EDS, such as the genes that participate in the structure and function of the myomatrix or in the biosynthesis of glucosaminoaglycans. Determining the correct clinical and molecular diagnosis is important for treatment, as well as for accurate genetic counseling.
Most patients consult their primary care physician with joint symptoms or problems related to fragility of the skin or tissues, such as ease of bruising.
Trauma injuries are often the reason for repeated visits to the emergency department. Symptoms may have been present since they were small and diagnostic delay is not uncommon.
What should you look for in the physical exam?
Perform a complete examination of the skin and musculoskeletal system. Joint hypermobility is the most frequent characteristic of Ehlers-Danlos syndromes, but the absence of it does not rule them out.
Beighton’s score is the accepted standard for recording joint hypermobility. The score of 5 or more in adults indicates generalized joint hypermobility.
Skin characteristics, such as hyperextensibility, are more prominent in classic EDS, kyphoscolioticEDS and classic type EDS. Extensive scars are seen more in classic EDS and kyphoscolioticEDS. Aneurysms and arterial complications are more prominent in vascular EDS.
What studies are useful in patients with the possible diagnosis of EDS?
In the doctor’s office:
- If the propensity to develop bruises is the reason for consultation, it is important to question epistaxis, menorrhagia and hemorrhage due to minor injuries and operations and rule out other causes of propensity to bleed. Initially perform a complete blood count and a coagulogram and refer to hematology if necessary.
- The presence of specific musculoskeletal findings can lead to certain investigations, such as radiographs, when deformities or contractures of the spine or thorax are found. Perform serological tests to exclude inflammatory rheumatic disorders.
In the specialist’s office:
- To determine the exact subtype of EDS, molecular genetic tests are essential.
- Skin biopsy may be useful in some cases, especially to identify a genetic variant of uncertain significance.
- In the pediatric population, if hypotoniais found, a complete neuromuscular study is recommended.
What should your treatment be?
The treatment should be adapted according to the patient’s symptoms. Referral to rheumatology for active rehabilitation focused on self-treatment can be useful. If the pain extends beyond the affected joints and disrupts sleep or if pain treatment is difficult, referral to a pain specialist may be helpful.
How is the prognosis of this disease?
It is highly variable and will depend in part on the severity of the patient’s involvement. Hypermobility can increase the susceptibility of the joints to osteoarthritis.