Rheumatology Book


Ehlers-Danlos Syndrome

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

Ehlers-Danlos Syndrome (C0013720)

Definition (MSH) A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
Definition (MSHCZE) Dědičné onemocnění s porušenou tvorbou kolagenu, které se projevuje nápadnou volností kloubů, hyperelastičností a zranitelností kůže; často bývá postižena rovněž pojivová tkáň vnitřních orgánů. (cit. Velký lékařský slovník online, 2012 http://lekarske.slovniky.cz/ )
Definition (MEDLINEPLUS)

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs.

EDS usually affects your skin, joints and blood vessel walls. Symptoms include

  • Loose joints
  • Fragile, small blood vessels
  • Abnormal scar formation and wound healing
  • Soft, velvety, stretchy skin that bruises easily

There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

Definition (NCI) An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.
Definition (CSP) group of inherited disorders of the connective tissue; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues with bleeding and poor wound healing, calcified subcutaneous spheroids, and pseudotumors.
Concepts Disease or Syndrome (T047) , Congenital Abnormality (T019)
MSH D004535
ICD9 756.83
ICD10 Q79.6
SnomedCT 2300005, 268352002, 157008000, 238848002, 398114001
English Ehlers Danlos Syndrome, Ehlers-Danlos Syndrome, Syndrome, Ehlers-Danlos, Ehlers-Danlos Disease, Cutis Elastica, Disease, Ehlers-Danlos, Ehler Danlos Syndrome, EHLERS DANLOS DIS, EDS - Ehlers-Danlos syndrome, cutis elastica, cutis hyperelastica, Ehlers-Danlos syndrome (diagnosis), Cutis hyperplastica, Ehlers-danlos syndrome, Ehlers-Danlos Syndrome [Disease/Finding], ehlers danlos syndrome, skin elastic, danlos disease, danlos ehlers syndrome, eds ehlers danlos syndrome, ehlers danlos syndromes, ehlers-danlos syndrome, elastic skin, ehler danlos syndrome, EDS, Disease, Ehlers Danlos, Ehlers Danlos Disease, Danlos Disease, Ehlers, Cutis hyperelastica (disorder), Cutis hyperelastica, Ehlers-Danlos syndrome, Cutis elastica, Cutis hyperelastica dermatorrhexis, Danlos disease, Dystrophia mesodermalis congenita, Fibrodysplasia elastica generalisata, Hereditary collagen dysplasia, India rubber skin, Meekeren-Ehlers-Danlos syndrome, Ehlers-Danlos syndrome (disorder), Ehlers-Danlos, cutis; hyperelastica, hyperelastica; cutis, Danlos, Ehlers-Danlos syndrome, NOS, Ehlers Danlos syndrome
Dutch cutis hyperplastica, cutis; hyperelastica, hyperelastica; cutis, syndroom van Ehlers-Danlos, Cutis elastica, Ehlers-Danlos-syndroom, Syndroom van Ehlers-Danlos, Syndroom, Ehlers-Danlos-, Ziekte van Ehlers-Danlos
French Cutis hyperplastica, Syndrome d'Ehlers-Danlos, Cutis hyperelastica, Cutis elastica
German Cutis hyperplastica, Cutis hyperelastica, Ehlers-Danlos-Syndrom, Fibrodysplasia elastica generalisata
Portuguese Cútis hiperplásica, Cutis Elastica, Síndrome de Ehlers-Danlos
Spanish Cutis hiperelástico, displasia del colágeno hereditaria, fibrodisplasia elástica generalizada, piel de goma india, síndrome de Ehlers - Danlos (trastorno), cutis elástica, distrofia mesodérmica congénita, síndrome de Meekeren - Ehlers - Danlos, síndrome de Ehlers - Danlos, síndrome de Ehlers-Danlos (trastorno), síndrome de Ehlers-Danlos, Cutis Elastica, Síndrome de Ehlers-Danlos
Japanese エーラース・ダンロス症候群, 弛緩性皮膚, シカンセイヒフ, エーラースダンロスショウコウグン, ザック・バラバス病, Ehlers-Danlos症候群, エーラース・ダンロス症候群, エーラース-ダンロス症候群, 先天性多発性関節弛緩症, 弾力過剰性皮膚症, 弾性線維性皮膚, エーレルス-ダンロー症候群
Swedish Ehlers-Danlos syndrom
Czech Ehlersův-Danlosův syndrom, Cutis hyperplastica, Ehlers-Danlosův syndrom
Finnish Ehlers-Danlosin oireyhtymä
Italian Iperelasticità cutanea, Malattia di Ehlers-Danlos, Cutis Elastica, EDS, Sindrome di Ehlers-Danlos
Korean 엘러스-단로스 증후군
Polish Zespół Ehlersa-Danlosa
Hungarian Cutis hyperplastica, Ehlers-Danlos-syndroma
Norwegian Ehlers-Danlos' syndrom, Ehlers-Danlos' sykdom
Derived from the NIH UMLS (Unified Medical Language System)

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