Ehlers-Danlos Syndrome Questions & Answers

Updated: Apr 12, 2019
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Questions & Answers

Overview

What is Ehlers-Danlos syndrome (EDS)?

How is Ehlers-Danlos syndrome (EDS) categorized?

What is the pathophysiology of Ehlers-Danlos syndrome (EDS) type IV?

What is the pathophysiology of Ehlers-Danlos syndrome (EDS)?

Which genes are involved in the pathogenesis of Ehlers-Danlos syndrome (EDS) types I and II?

Which genomic defect is associated with Ehlers-Danlos syndrome (EDS)?

Which genetic mutations are identified in the pathogenesis of Ehlers-Danlos syndrome (EDS) type VI?

What is the role of tenascin-X in the pathogenesis of Ehlers-Danlos syndrome (EDS)?

Which novel mutation has been reported in Ehlers-Danlos syndrome (EDS)?

Which genetic mutations are involved in the pathogenesis of vascular Ehlers Danlos syndrome (vEDS)?

What is a typical feature of Ehlers-Danlos syndrome (EDS)?

Which genetic deficiencies have been reported in pediatric Ehlers-Danlos syndrome (EDS)?

Which enzyme deficiency is associated with the progeriform Ehlers-Danlos syndrome (EDS)?

What is the role of biallelic mutations in the pathogenesis of Ehlers-Danlos syndrome (EDS)?

What is the role of collagens in the etiology of Ehlers-Danlos syndrome (EDS)?

What is the prevalence of Ehlers-Danlos syndrome (EDS)?

What are the racial predilections of Ehlers-Danlos syndrome (EDS)?

How does the prevalence of Ehlers-Danlos syndrome (EDS) vary by sex?

In what age group in Ehlers-Danlos syndrome (EDS) most commonly diagnosed?

What is the prognosis of Ehlers-Danlos syndrome (EDS)?

Where can patient education resources be found for Ehlers-Danlos syndrome (EDS)?

Presentation

What are the signs and symptoms of Ehlers-Danlos syndrome (EDS)?

How does Ehlers-Danlos syndrome (EDS) affect mental development?

What are the signs and symptoms of tenascin-X form of Ehlers-Danlos syndrome (EDS)?

What are dental symptoms of Ehlers-Danlos syndrome (EDS)?

What causes splenic rupture in vascular Ehlers-Danlos syndrome (EDS)?

What are cutaneous symptoms of Ehlers-Danlos syndrome (EDS)?

What is the relationship between multiple sclerosis (MS) and Ehlers-Danlos syndrome (EDS)?

What is a suggested diagnostic criterion for Ehlers-Danlos syndrome (EDS)?

Which clinical conditions have been reported with Ehlers-Danlos syndrome (EDS)?

Where can photos of patients with Ehlers-Danlos syndrome (EDS) be found?

What are physical findings characteristic of Ehlers-Danlos syndrome (EDS)?

How are the joints affected by Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type I (gravis form) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type II (mitis form) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type III (benign familiar hypermobile form) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type IV (ecchymotic or arterial form) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type V (X-linked form) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type VI (ocular form) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type VII (arthrochalasis multiplex congenita) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type VIII (periodontal form) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type IX (X-linked cutis laxa) Ehlers-Danlos syndrome (EDS)?

What are the characteristics of type X (fibronectin deficiency) and XI (benign hypermobile joint syndrome) Ehlers-Danlos syndrome (EDS)?

What is the 1997 classification system for Ehlers-Danlos syndrome (EDS)?

What is the 2017 Ehlers-Danlos syndrome international classification system?

What are the possible complications of Ehlers-Danlos syndrome (EDS)?

DDX

Which conditions should be included in the differential diagnoses of Ehlers-Danlos syndrome (EDS)?

What are the differential diagnoses for Ehlers-Danlos Syndrome?

Workup

What is the role of imaging studies in the diagnosis of Ehlers-Danlos syndrome (EDS)?

Which other tests may be used to diagnose Ehlers-Danlos syndrome (EDS) during pregnancy?

What are the histologic findings characteristic of Ehlers-Danlos syndrome (EDS)?

Treatment

What are the medical treatment options for Ehlers-Danlos syndrome (EDS)?

Why does surgery pose a mortality risk for patients with Ehlers-Danlos syndrome (EDS)?

When are activity modifications needed in patients with Ehlers-Danlos syndrome (EDS)?

Medications

Which medications in the drug class Vitamins are used in the treatment of Ehlers-Danlos Syndrome?