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Ehlers-Danlos Syndrome
Aka: Ehlers-Danlos Syndrome, Ehlers Danlos Syndrome, Cutis hyperplastica
- See Also
- Hypermobility Syndrome
- Hypermobile Ehlers-Danlos Syndrome
- Classic Ehlers-Danlos Syndrome
- Pathophysiology
- Conective tissue disorder
- Types
- Hypermobile Ehlers-Danlos Syndrome (Autosomal Dominant, 80-90% of EDS cases)
- Only Ehlers-Danlos Syndrome type without an identified genetic disorder
- Joint Hypermobility with Joint Pain or recurrent dislocations
- Atrophic Scarring is mild (and no hemosiderotic scars)
- Skin is not as fragile
- No genetic associations identified
- Obtain screening Echocardiogram
- Positive Beighton Score
- Classic Ehlers-Danlos Syndrome (COL5A1, COL5A2, COL1A1; Autosomal Dominant)
- Skin Hyperextensibility
- Atrophic Scarring
- Generalized joint Hypermobility
- Positive Beighton Score
- Classic-Like Ehlers-Danlos Syndrome (TNXB, Autosomal Recessive)
- Atrophic Scarring absent
- Skin hyperextensibility
- Easy Bruising
- Positive Beighton Score
- Cardiac-Valvular Ehlers-Danlos Syndrome (COL1A2, Autosomal Recessive)
- Severe progressive cardiac valvular disorders
- Variable Beighton Score
- Vascular Ehlers-Danlos Syndrome (COL3A1, rarely COL1A1, Autosomal Dominant)
- Early arterial rupture
- Uterine Rupture
- Sigmoid colon perforation
- Carotid-Cavernous Sinus Fistula
- Arthrochalasia Ehlers-Danlos Syndrome (COL1A1, COL1A2; Autosomal Dominant)
- Bilateral Congenital Hip Dislocation
- Skin hyperextensibility
- Positive Beighton Score
- Dermatosparaxis Ehlers-Danlos Syndrome (ADAMTS2, Autosomal Recessive)
- Significant skin fragility
- Redundant lax skin
- Craniofacial anomalies
- Postnatal growth restriction
- Variable Beighton Score
- Kyphoscoliotic Ehlers-Danlos Syndrome (PLOD1, FKB14, Autosomal Recessive)
- Congenital Muscle hypotonia
- Kyphoscoliosis
- Dislocations and Subluxations
- Congenital Hearing Deficit
- Positive Beighton Score
- Brittle Cornea Syndrome (ZNF469, PRDM5, Autosomal Recessive)
- Thin Cornea (risk of rupture)
- Keratoconus
- Blue Sclerae
- Keratoglobus
- Variable Beighton Score
- Spondylodysplastic Ehlers-Danlos Syndrome (B4GALT7, B3GALT6, SLC39A13, Autosomal Recessive)
- Short Stature
- Muscle hypotonia
- Limb bowing
- Variable Beighton Score
- Musculocontractural Ehlers-Danlos Syndrome (9CHST14, DSE, Autosomal Recessive)
- Congenital multiple contractures
- Craniofacial abnormality
- Skin involvement
- Variable Beighton Score
- Myopathic Ehlers-Danlos Syndrome (COL12A1, Autosomal Recessive or dominant)
- Congenital Muscle hypotonia or atrophy of distal joints (improves with age)
- Proximal Muscle contractures
- Periodontal Ehlers-Danlos Syndrome (C1R, C1S, Autosomal Dominant)
- Periodontitis and detached Gingiva
- Pretibial Plaques
- Variable Beighton Score
- Differential Diagnosis
- See Hypermobility Syndrome
- See Ehlers-Danlos Syndrome (EDS) types as above
- Imaging
- Echocardiogram
- Indicated for aortic dilation or Mitral Valve Prolapse
- Repeat yearly, if anomaly present
- Management
- General
- Avoid Contact Sports
- Avoid joint injury
- Regular Exercise is encouraged (low impact, low resistance)
- Maintain a healthy weight (adequate nutrition, but avoid excessive weight gain)
- Multidisciplinary Consultation
- Consult physical therapy
- Strengthening Exercises
- Proprioception Exercises
- Consider occupational therapy
- Upper extremity strengthening (esp. Hand Muscles)
- Activities of Daily Living
- Consider Orthotics, bracing and taping
- Consider Chronic Pain Management
- Consider Tai Chi
- Hypotonia or delayed motor development
- Physiotherapy
- Pool Exercise and other non-weight bearing activities
- Joint Pain
- NSAIDs
- Local Heat Therapy
- Local Cold Therapy
- Ergonomics
- Skin Wounds
- Close with two layers, and generous deep Sutures to reduce skin tension
- Skin protection (knee pads, shin pads or stockings)
- Bruising
- Avoid Aspirin and other agents affecting Platelets (increases Bruising)
- Vitamin C supplementation may reduce Bruising
- Bleeding complications
- Consider DDAVP
- Orthostasis
- Increase salt intake
- Compression Stockings
- Prevention: Genetic Counseling
- At least 50% of Ehlers-Danlos Syndrome patients have an affected parent (remainder are de novo)
- Known parent with Classic Ehlers-Danlos Syndrome (EDS) has a 50% chance of a child with EDS
- Resources
- Professional Resources (Ehlers-Danlos Society)
- https://www.ehlers-danlos.com/medical-professionals/
- References
- Malfait in Adam (2018) Classic Ehlers Danlos Syndrome, GeneReviews
- https://www.ncbi.nlm.nih.gov/books/NBK1244/
- Malfait (2017) Am J Med Genet C Semin Med Genet 175(1): 8-26 +PMID:28306229 [PubMed]
- Yew (2021) Am Fam Physician 103(8): 481-92 [PubMed]