eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Ehlers-Danlos Syndrome: Treatment & Medication

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

Treatment

Medical Care

  • A correct diagnosis is critical and must be determined if possible. Confirmation using biochemical studies on collagen molecules is possible with cultured skin fibroblasts for the vascular form (Ehlers-Danlos syndrome [EDS] type IV), for arthrochalasia (Ehlers-Danlos syndrome type VIIA and VIIB), and for dermatosparaxis (Ehlers-Danlos syndrome type VIIC). A diagnostic assay of urinary pyridinoline cross-links identifies the kyphoscoliosis type (Ehlers-Danlos syndrome type VI) Therefore, if the clinical diagnosis is type IV, type VI, and some of the forms of type VII Ehlers-Danlos syndrome, perform biochemical or molecular studies.
  • Once a diagnosis of Ehlers-Danlos syndrome has been made, preventative measures should be undertaken. Wearing a MedicAlert bracelet may be helpful in case of life-threatening events.
  • In the event of skin lacerations or other injuries, take extreme care with the use of sutures. Seriously consider alternatives to sutures, including adhesive strips and wound glues.
  • Monitor patients for scoliosis and instruct them to avoid excessive or repetitive lifting and other activities that produce undue strain or stress on their already hypermobile joints.
  • Pay careful attention to cardiac auscultation and evaluation. The murmur of mitral valve prolapse (particularly in classic and hypermobile Ehlers-Danlos syndrome) should be noted; if indicated, perform an echocardiography. In the presence of mitral valve prolapse, monitoring and screening are indicated, as is the use of subacute bacterial endocarditis (SBE) precautions. Because adults with vascular Ehlers-Danlos syndrome are at risk for arterial aneurysm and rupture, noninvasive visualization of the arterial tree may be indicated. Initial echocardiography including the aortic arch is recommended for adults with classic Ehlers-Danlos syndrome because recent studies indicate a possible risk for thoracic aortic enlargement. Current evidence is not sufficient to guide the approach to monitoring for this potential complication.
  • High-dose (1-4 g/d) ascorbic acid therapy has been tried and, in theory, has a potential effect. Clinical studies suggest that wound healing, even in patients not deficient in vitamin C, can be improved with supplementation above the recommended daily allowance. In patients with type VI Ehlers-Danlos syndrome, bleeding time, wound healing, and muscle strength seemed to improve after 1 year of high-dose vitamin C therapy; however, high-dose vitamin C therapy is not the standard of care.
  • Recombinant factor VIIa has been used to help control surgical bleeding, but experience is limited and the usual surgical precautions for patients with Ehlers-Danlos syndrome should be followed.15  Desmopressin may also be effective in reducing bleeding time, but the safety and efficacy of desmopressin in the prevention and treatment of bleeding in Ehlers-Danlos syndrome remains to be established.16

Consultations

  • Consultation with an ophthalmologist may be necessary. Patients with Ehlers-Danlos syndrome should be screened for myopia, retinal tears, and keratoconus. Recommend regular eye examinations.
  • Consultation with a dentist may be necessary. Patients with connective tissue disorders should practice meticulous dental care, which should be monitored. Treat periodontitis aggressively. In particular, good dental care is important in patients with type VI Ehlers-Danlos syndrome.
  • Accurate genetic counseling is one of the most critical issues in the treatment of patients with Ehlers-Danlos syndrome.
    • Provide the family with detailed information regarding the inheritance pattern, recurrence risks, and identification of at-risk family members. Screen pertinent individuals in the family for subtle signs and symptoms of the condition regardless of whether signs or symptoms are suggested by the family history. Discuss the prognosis and natural history of the particular Ehlers-Danlos syndrome type in detail with the family.
    • A key element in the genetic counseling process includes triage toward indicated medical services and, most importantly, resource identification. Identify support group resources and provide other information to the family, such as the Ehlers-Danlos National Foundation.

Activity

  • Instruct patients with Ehlers-Danlos syndrome to avoid excessive or repetitive heavy lifting and other movements that produce undue strain or stress on the already hypermobile joints. However, careful weight training with relatively low weight may be therapeutic. Advise patients to avoid (preventable) significant trauma.

Medication

High-dose ascorbic acid has been used, although it is not considered the standard of care (see Treatment).

Desmopressin may normalize bleeding time in Ehlers-Danlos syndrome (EDS), but further studies are needed to establish safety and efficacy of this medication in treatment and/or prevention of bleeding in patients.16

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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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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