Rheumatology Book


Ehlers-Danlos Syndrome

Aka: Ehlers-Danlos Syndrome, Ehlers Danlos Syndrome, Cutis hyperplastica, Classic Ehlers-Danlos Syndrome, Classic EDS
  1. Pathophysiology
    1. Conective tissue disorder
  2. Types
    1. Classic Ehlers-Danlos Syndrome (COL5A1, COL5A2, COL1A1; Autosomal Dominant)
      1. Skin Hyperextensibility
      2. Atrophic Scarring
      3. Generalized joint hypermobility
    2. Classic-Like Ehlers-Danlos Syndrome (TNXB, Autosomal Recessive)
      1. Atrophic Scarring absent
    3. Cardiac-Valvular Ehlers-Danlos Syndrome (COL1A2, Autosomal Recessive)
      1. Severe progressive cardiac valvular disorders
    4. Hypermobile Ehlers-Danlos Syndrome (Autosomal Dominant)
      1. Scarring is mild (and no hemosiderotic scars)
      2. Skin is not as fragile
    5. Arthrochalasia Ehlers-Danlos Syndrome (COL1A1, COL1A2; Autosomal Dominant)
      1. Bilateral Congenital Hip Dislocation
    6. Dermatosparaxis Ehlers-Danlos Syndrome (ADAMTS2, Autosomal Recessive)
      1. Significant skin fragility
      2. Redundant lax skin
      3. Craniofacial anomalies
      4. Postnatal growth restriction
    7. Kyphoscoliotic Ehlers-Danlos Syndrome (PLOD1, Autosomal Recessive)
      1. Congenital muscle hypotonia
    8. Kyphoscoliotic Ehlers-Danlos Syndrome with Myopathy and neurosensory Hearing Loss (FKBP14, Autosomal Recessive)
      1. Congenital muscle hypotonia
      2. Muscle Atrophy
      3. Congenital Hearing Deficit
  3. Exam: Classic Ehlers-Danlos Syndrome
    1. Skin
      1. Soft dough-like feel
      2. Hyperextensible
      3. Fragile (splits easily with minor Trauma)
        1. Joint surfaces (e.g. knees, elbows)
        2. Trauma prone regions (e.g. chin, shins)
      4. Poor Wound Healing (with scar Stretching)
      5. Easy Bruising
    2. Joints
      1. Hypermobile
      2. Dislocations are common (e.g. Shoulder, Patella, fingers, hip, radius, clavicle)
        1. Often relocated by the patient without medical assistance
    3. Neurologic
      1. Hypotonia
      2. Delayed motor development
      3. Muscle Fatigue
      4. Myalgias
    4. Cardiovascular
      1. Mitral Valve Prolapse (uncommon, and typically benign)
      2. Aortic root dilation (uncommon, and typically static)
  4. Diagnosis: Classic Ehlers-Danlos Syndrome
    1. Major Criteria
      1. Skin hyperextensibility AND
      2. Atrophic Scarring AND
      3. Generalized joint hypermobility OR 3 minor criteria
    2. Minor Criteria (3 required if absence of Generalized joint hypermobility)
      1. Easy Bruising
      2. Soft doughy skin
      3. Skin fragility or Traumatic splitting
      4. Molluscoid pseudotumors
        1. Elevated lesions over scarred pressure points (e.g. elbows, knees)
      5. Subcutaneous spheroids
        1. Small round hard densities mobile and palpable within the skin of the forarm or shin
      6. Hernia
      7. Epicanthal Folds
      8. Joint hypermobility complications (sprains, dislocations, flexible flat foot)
      9. First degree relative with Ehlers-Danlos Syndrome diagnostic criteria met
    3. Genetic Confirmation (panel)
      1. COL5A1
      2. COL5A2
      3. COL1A1 (less common)
  5. Differential Diagnosis
    1. See Hypermobility syndrome
    2. See types as above
  6. Imaging
    1. Echocardiogram
      1. Indicated for aortic dilation or Mitral Valve Prolapse
      2. Repeat yearly, if anomaly present
  7. Management
    1. General
      1. Avoid Aspirin
      2. Avoid Contact Sports
    2. Hypotonia or delayed motor development
      1. Physiotherapy
      2. Pool Exercise and other non-weight bearing activities
    3. Joint Pain
      1. NSAIDs
    4. Skin Wounds
      1. Close with two layers, and generous deep Sutures to reduce skin tension
      2. Skin protection (knee pads, shin pads or stockings)
    5. Bruising
      1. Vitamin C supplementation may reduce Bruising
    6. Bleeding complications
      1. Consider DDAVP
  8. 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
  9. References
    1. Malfait in Adam (2018) Classic Ehlers Danlos Syndrome, GeneReviews
      1. https://www.ncbi.nlm.nih.gov/books/NBK1244/

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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