Ehlers-Danlos Syndrome (EDS) is a complex group of rare connective tissue disorders that affect various systems in the body. EDS primarily impacts the connective tissues in the body, which provide strength and support to various structures, including the skin, joints, blood vessels, and internal organs. There are many subtype of EDS, which are characterized by distinct clinical features and genetic mutations.
Subtypes of EDS depend on what parts of the connective tissue it affects.
- Disorders of collagen primary structure and processing (cEDS, vEDS, aEDS, dEDS, cvEDS)
- Disorders of collagen folding and crosslinking (kEDS)
- Disorders of myomatrix structure and function (clEDS, mEDS)
- Disorders of glycosaminoglycan biosynthesis (spEDS, mcEDS)
- Defects in the complement pathway (pEDS)
- Disorders of intracellular processes (spEDS
- Unresolved reasons (hEDS)
Classical EDS (cEDS)
Major criteria: Skin hyperextensibility, atrophic scarring, generalized joint hypermobility (GJH)
Diagnosis: Molecular testing revealing mutations in COL5A1 or COL5A2 genes.
Inheritance: Autosomal dominant.
Classical-like EDS (clEDS)
Major criteria: Skin hyperextensibility (velvety skin texture), generalized joint hypermobility with or without recurrent dislocations, easily bruised skin or spontaneous ecchymoses.
Diagnosis: Molecular testing showing biallelic TNXB mutations.
Inheritance: Autosomal recessive.
Hypermobile EDS (hEDS)
Diagnosis: Clinical criteria, including generalized joint hypermobility (Beighton score >5), systemic manifestations of connective tissue disorder, family history, musculoskeletal complications.
Note: hEDS does not yet have a known genetic cause.
Inheritance: Autosomal dominant.
Cardiac-Valvular EDS (cvEDS)
Major criteria: Severe progressive cardiac-valvular problems, skin involvement (skin hyperextensibility, atrophic scars, thin skin, easy bruising), GJH.
Diagnosis: Molecular testing revealing biallelic COL1A2 mutations.
Inheritance: Autosomal recessive.
Vascular EDS (vEDS)
Major criteria: Family history of vEDS with documented causative variant in COL3A1, arterial rupture at a young age, spontaneous sigmoid colon perforation, uterine rupture during the third trimester, carotid-cavernous sinus fistula formation.
Diagnosis: Molecular testing showing heterozygous mutations in COL3A1.
Inheritance: Autosomal dominant.
Other Subtypes of EDS
- Arthrochalasia EDS (aEDS)
- Dermatosparaxis EDS (dEDS)
- Kyphoscoliotic EDS (kEDS)
Diagnosis
Diagnosing EDS can be complex; typically involves a detailed medical history, physical examination, and genetic testing.
Treatment & Management Options
Managing EDS primarily focuses on symptom relief, enhancing the quality of life, and minimizing complications.
Lifestyle Modifications: Avoiding activities that may exacerbate symptoms and adopting a balanced, low-impact exercise routine.
Physical Therapy: Tailored exercises to improve joint stability and function.
Pain Management: Medications and pain-relief techniques to alleviate chronic pain. Anecdotal evidence suggest that Low Dose Naltrexone (LDN) may offer a promising approach for managing certain aspects.
Skin Care: Gentle skincare routines to protect fragile skin.
Cardiac Monitoring: Regular cardiac assessments for those with vEDS.