Ehlers-Danlos Syndrome

Author: Deborah Allen

Topic updated on 02/05/13 12:08am

Introduction
Connective tissue disorder characterized by hyperelastic/fragile skin, joint hypermobility and dislocation generalized ligamentous laxity poor wound healing early onset arthritis additional features soft tissue and bone fragility soft tissue calcification mitral valve prolapse aortic root dilatation developmental dysplasia of the hip clubfoot pes planus scoliosis high palate gastroparesis Genetics COL5A1 or COL5A2 mutation in 40-50% gene for type V collagen important in proper assembly of skin matrix collagen fibrils and basement membrane less common mutations identified below
Classification
Berlin Classification (1988) - revised Types I - XI exist Types II and III - most common and least disabling Villefranche Classification (1998) Classical - Type I (gravis) and Type II (mitis) autosomal dominant hyperextensible skin, widened atrophic scars, joint hypermobility COL5A1 or COL5A2 mutation; type V collagen (co-expressed with type I collagen) Hypermobility - Type III (hypermobile) autosomal dominant large and small joint hypermobility, recurring joint subluxations/dislocations, velvety soft skin, chronic pain, scoliosis unknown mutation Vascular - Type IV (vascular) autosomal dominant, rarely autosomal recessive translucent skin, arterial/intestinal/uterine fragility and spontaneous rupture, extensive bruising COL3A1 mutation; abnormal type III collagen Kyphoscoliosis - Type VI (ocular scoliotic) autosomal recessive severe hypotonia at birth, generalized joint laxity, progressive infantile scoliosis, scleral fragility may lead to globe rupture mutation in PLOD gene; lysyl hydroxylase deficiency (enzyme important in collagen cross-linking) Arthrochalasis - Type VIIA, VIIB autosomal dominant bilateral congenital hip dislocation, severe joint hypermobility, skin hyperextensibility deletion of type I collagen exons encoding N-terminal end of COL1A1 or COL1A2 Dermatosparaxis - Type VIIIC autosomal recessive severe skin fragility and substantial bruising, sagging or redundant skin mutation in ADAMTS2 gene; type I procollagen N-terminal peptidase deficiency
Presentation
Symptoms double-jointedness easily damaged, bruised, & stretchy skin easy scarring & poor wound healing increased joint mobility, joint popping, early arthritis especially shoulders, patellae, ankles chronic musculoskeletal pain (50%) Physical exam a score of 5 or more on 9-point Beighton scale defines joint hypermobility passive hyperextension of each small finger >90° (1 point each) passive abduction of each thumb to the surface of forearm (1 point each) hyperextension of each knee >10° (1 point each) hyperextension of each elbow >10° (1 point each) forward flexion of trunk with palms on floor and knees fully extended (1 point)
Imaging
Radiographs look for joint dislocations/subluxations kyphoscoliosis Echocardiogram cardiac evaluation with echo is mandatory in the workup up to 1/3 of patients have aortic root dilatation
Labs
Diagnosed by collagen typing of skin biopsy
Treatment
Nonoperative physical therapy, orthotics, supportive measures for pain indications mainstay of treatment Operative arthrodesis indications joints recalcitrant to non-operative management technique soft tissue procedures are unlikely successful in hypermobile joints posterior spinal fusion indications progressive scoliosis (most common in Kyphoscoliosis Type) technique longer fusions needed to prevent junctional problems

Please Rate Educational Value!

3.0

Average 3.0 of 8 Ratings

Qbank (1 Questions)

TAG

(OBQ05.232) All of the following are findings associated with Ehlers-Danlos syndrome EXCEPT: Topic

Review Topic

1. Superior lens dislocation of the eye
2. Joint hypermobility
3. Skin hyperelasticity
4. Pathologic defect of collagen
5. Poor wound healing

PREFERRED RESPONSE ▶

DISCUSSION: Superior lens dislocation of the eye is associated with Marfan's syndrome, not Ehlers-Danlos. (Inferior lens dislocation is associated with homocystinuria). Ehlers-Danlos consists of a spectrum of collagen abnormalities resulting in findings including but not limited to: generalized ligamentous laxity, joint hypermobility, poor wound healing, pes planus, vascular defects, high palates, gastroparesis, and mitral valve prolapse. The most common subtypes result from a mutation affecting collagen type V. Raff et al review the different disorders that are associated with generalized ligamentous laxity and their underlying pathologic defects. Included are Ehlers-Danlos, osteogenesis imperfecta, Marfan syndrome, and Larsen syndrome.

REFERENCES:

1. Raff ML, Byers PH. Joint hypermobility syndromes. Curr Opin Rheumatol. 1996Sep;8(5):459-66. PMID:8941450 (Link to Abstract)

2. Buckwalter JA, Simon SR, Einhorn TA. AAOS: Orthopedic Basic Science: Biology and Biomechanics of the Musculoskeletal System. 2nd ed, January 2000. pp111-131

Question Authors:

John Badylak MD, Eric Shirley MD,

Please Rate Educational Value!

3.0

Average 3.0 of 12 Ratings

Videos

Ehlers Danlos Syndrome - Swan Neck Deformity and Hyperextensionability of PIP

Hand - Physical Exam - Ehlers-Danlos Syndrome

Swan Neck Deformity is in which the joint closest to the fingertip is bent towar...

11/3/2012

129 views

See More Videos

Groups

ABOS II: Ehlers-Danlos Syndrome

General - Oral Boards Review

7/29/2011

0 responses

See More Groups

Evidence & References Show References

Level of Evidence 5 and Other Journal Articles (includes Case Reports, Expert Opinions, Personal Observations, and Biomechanic Studies)

Raff ML, Byers PH. Joint hypermobility syndromes. Curr Opin Rheumatol. 1996Sep;8(5):459-66. PMID:8941450 (Link to Abstract)

Textbooks

Review of Orthopaedics, 6th Edition, Mark D. Miller MD, Stephen R. Thompson MBBS MEd FRCSC, Jennifer Hart MPAS PA-C ATC, an imprint of Elsevier, Philadelphia, Copyright 2012
AAOS Comprehensive Orthopaedic Review, Jay R. Leiberman. Published by American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2009
Orthopaedic Knowledge Update 10, John M Flyn. Published by American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2011
Hoppenfeld SP. Surgical Exposures in Orthopaedics: The Anatomic Approach. Lipponcott, Williams, and Wilkins, Philadelphia, PA, Copyright 2009
Orthopaedic In-training Examination (OITE) Questions 2004-2012, American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2004-2012
Self-Assessment Examination (SAE) Questions 2004-2012, American Academy of Orthopaedic Surgeons, Rosemont IL. Copyright 2004-2012
Buckwalter JA, Simon SR, Einhorn TA. AAOS: Orthopedic Basic Science: Biology and Biomechanics of the Musculoskeletal System. 2nd ed, January 2000. pp111-131

Topic Comments

Subscribe status: On Off

Recent on Bottom | Recent on Top

Page:1