eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Ehlers-Danlos Syndrome: Follow-up

Author: Robert D Steiner, MD, Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Co-Director: Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute (CTSA).
Contributor Information and Disclosures

Updated: Mar 25, 2009

Follow-up

Inpatient & Outpatient Medications

  • Wound healing may be improved in patients with Ehlers-Danlos syndrome (EDS) with vitamin C supplementation above the recommended daily allowance (see Medical Care).
  • Subacute bacterial endocarditis (SBE) prophylaxis may be appropriate in the presence of mitral valve prolapse.

Complications

  • Complications are related to the primary pathophysiology and include joint dislocations, wound healing problems, and scarring. Individuals with vascular Ehlers-Danlos syndrome are at risk for spontaneous arterial rupture and bowel perforation, particularly the sigmoid colon, as well as other hollow organ perforation or rupture.

Prognosis

  • Median life expectancy for patients with type IV Ehlers-Danlos syndrome is 50 years. In patients with other Ehlers-Danlos syndrome types, life expectancy is usually normal.

Patient Education

  • The diversity and complexity of Ehlers-Danlos syndrome serve to highlight several important principles of clinical human genetics. That these principles must be accurately relayed to and understood by the family during counseling.
    • Genetic heterogeneity refers to the fact that mutations in different genes can produce the same phenotype. For example, type I Ehlers-Danlos syndrome can result from mutations in 2 collagen genes, either COL5A1 (chromosome bands 9q34.2-34.3) or COL5A2 (band 2q31).
    • Variable expression (ie, variability in severity of disease expression) is a hallmark of autosomal dominant conditions. Autosomal dominant Ehlers-Danlos syndrome exhibits both intrafamilial and interfamilial variability, which is a critical counseling issue in regard to recurrences. In addition, closely examining families for members who may not have been diagnosed in the past is important because of the mild degree of expression.
    • An indeterminate diagnosis of a clinical subtype of Ehlers-Danlos syndrome may not be possible in as many as 50% of patients. The clinician must tell patients when the diagnosis is either unknown or unclear, rather than guess and provide incorrect information. The subtypes of Ehlers-Danlos syndrome are associated with differences in modes of inheritance and long-term prognoses.
    • Currently, the diagnosis of only a few subtypes of Ehlers-Danlos syndrome can be confirmed using the practical laboratory studies available. A prevailing misconception is that specific skin biopsy findings can confirm or exclude the specific diagnosis of Ehlers-Danlos syndrome. No specific histopathologic skin biopsy findings identify patients with Ehlers-Danlos syndrome; therefore, skin biopsies should not be performed to confirm or exclude the diagnosis. A skin biopsy may be indicated to obtain cultured skin fibroblasts for specific biochemical and molecular studies, but most patients and clinicians must simply rely on clinical diagnosis.
    • Elucidating the pathophysiology of a specific clinical disorder often leads to rethinking the phenotypic classification. For example, the previously designated type IX Ehlers-Danlos syndrome is now known to be the result of a mutation in a copper transport gene and is an allelic variant to Menkes (kinky hair) disease.
  • Encourage patients to protect their joints and avoid undue trauma. Instruct patients to avoid entertaining other persons by performing maneuvers "showing off" their joint laxity. Continued excessive stretching of the joints may further exacerbate the underlying disorder.
  • Instruct patients to avoid excessive or repetitive heavy lifting and other movements that produce undue strain or stress on already hypermobile joints.
  • Instruct patients with connective tissue disorders to practice meticulous dental care. Monitor dental hygiene and treat periodontitis aggressively. This advice is particularly important for patients with type VI Ehlers-Danlos syndrome.
  • Instruct patients with Ehlers-Danlos syndrome to visit the ophthalmologist regularly for myopia, retinal tears, and keratoconus screening.
  • Instruct patients with Ehlers-Danlos syndrome to avoid undue trauma to the skin and other organ systems because of poor wound healing and skin fragility. In particular, the primary care physician should strongly discourage potentially traumatic recreational activities.

Miscellaneous

Medicolegal Pitfalls

  • Vascular Ehlers-Danlos syndrome (Ehlers-Danlos syndrome type IV) is particularly notable because an accurate diagnosis must be made; following this condition with biochemical or molecular testing is critical. Counseling must include detailed information regarding various important issues, including emergent action, surgical options, effects of pregnancy (which may be life threatening), and risk for arterial, bowel, and other organ complications. Surgeons and others looking after these patients should not underestimate the difficulty and complications with trauma and surgery these patients face.

Special Concerns

  • Pregnancy represents a special issue in patients with certain types of Ehlers-Danlos syndrome. The critical elements are clearly prepregnancy identification of the syndrome and anticipation of potential complications or problems. Ehlers-Danlos syndrome presents a specific set of risks for both mother and baby.
  • Risks for the mother include uterine prolapse, uterine tear, poor wound healing during the postpartum period, and excessive bleeding both during and after delivery.
  • Risks for the baby include premature rupture of membranes with secondary premature delivery and all inherent complications. In addition, significant joint laxity already present in the newborn period may be mistaken for hypotonia, resulting in a misdirected diagnostic evaluation.17
  • The kyphoscoliotic form in a pregnant woman was associated with both maternal and infant mortality in one report.18
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous coauthors G Bradley Schaefer, MD, and Melanie G Pepin, MS, CGC, to the original writing and development of this article.



More on Ehlers-Danlos Syndrome

Overview: Ehlers-Danlos Syndrome
Differential Diagnoses & Workup: Ehlers-Danlos Syndrome
Treatment & Medication: Ehlers-Danlos Syndrome
Follow-up: Ehlers-Danlos Syndrome
Multimedia: Ehlers-Danlos Syndrome
References
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Further Reading

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Keywords

Ehlers-Danlos syndrome, EDS, connective tissue disorders, joint laxity, articular hypermobility, skin laxity, hyperextensible skin, abnormal wound healing, hypermobility syndrome, collagen abnormalities, lysyl hydroxylase deficiency, periodontitis, fibronectin, platelet aggregation defect, acrogeria, tissue fragility, vascular rupture, colonic perforation, excessive bruising, easy bruising, prominent venous plexus, petechiae, retinal detachment, dystrophic scarring, Ehlers-Danlos syndrome type 1, Ehlers-Danlos syndrome classic type, Marfan syndrome, Williams syndrome, rectal prolapse, Menkes disease, mitral valve prolapse, microcornea, myopia, scoliosis, neonatal hypotonia, short stature, micrognathia, molluscoid pseudotumors, muscle hypotonia, early onset varicose veins, pneumothorax

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Contributor Information and Disclosures

Author

Robert D Steiner, MD, Professor, Departments of Pediatrics and Molecular and Medical Genetics, Vice Chair for Research, Department of Pediatrics, Oregon Health & Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital and Doernbecher Children's Hospital; Co-Director: Pediatric and Child Health Research, Oregon Clinical and Translational Research Institute (CTSA).
Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research
Disclosure: Genzyme Honoraria Speaking and teaching; Genzyme Grant/research funds Other; Shire Honoraria Speaking and teaching; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Speaking and teaching; Biomarin Consulting fee Consulting

Medical Editor

Michael Fasullo, PhD, Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College
Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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