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Ehlers-Danlos Syndrome (EDS): An Overview

Introduction

The Ehlers-Danlos Syndromes (EDS) form a large group of related disorders that are caused by genetic defects in collagen, either by lack of amount or being structurally dysfunctional. The clinical features are associated with alterations of the skin, muscles, skeleton, and blood vessels. Hyperelasticity of the skin, hypermobility of the joints leading easily to dislocations, vascular wall anomalies causing aneurysms and hemorrhages, are pathognomic signs of the disease.

Originally, the subtypes were described and referred to using Roman numeral designations (EDS I-EDS XI). This classification was based primarily on symptoms and mode of inheritance. Subsequently, EDS was classified into six subtypes based on the characteristic features observed in affected individuals. In 2017, the International Classification for the Ehlers-Danlos Syndromes was published, in which thirteen descriptive subtypes have been recognized. The 2017 International Classification most recently outlines a classification based on underlying genetic causes (Groups A-F) that is used for research purposes. See Table E-1.

TABLE E-1Ehlers-Danlos Syndrome Classification
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TABLE E-1 Ehlers-Danlos Syndrome Classification
EDS Type Former Type Inheritance Major Criteria Minor Criteria Pathogenesis
Classic

Gravis type (EDS Type I)

Mitis type (EDS Type II)

 Autosomal dominant

Skin hyperextensibility

Wide atrophic scars;

Joint hypermobility;

Fragile blood vessels;

Paper-like (papyraceous) scarring;

Heart valve disease (mitral/bicuspid valve);

Acute heart failure;

Sudden dilatation of the aorta;

Sudden death

Smooth, velvety skin;

Subcutaneous spheroids;

Molluscoid pseudotumors;

Easy bruising;

Manifestations/complications of joint hypermobility (dislocations/subluxations), tissue hyperextensibility, and fragility (hiatal hernia, anal prolapse);

Surgical complications (postoperative hernias);

Muscle hypotonia with delayed motor development;

Positive family history

Abnormal electrophoretic mobility of the proα1 or proα2 chains of collagen type V;

Mutations on COL5A1 and COL5A2;

Abnormal electron microscopic findings in the collagen fibril structure (“cauliflower” deformity of collagen fibrils)
Classic-like (cIEDS) Rare subtype of EDS Autosomal recessive Similar clinical course to cEDS Similar clinical course to cEDS

It is caused by mutations in the gene TNXB;

Tenascin-x also functions to regulate the

stability of the body’s elastic fibers
Cardiac-vascular Type (cvEDS) Rare subtype of EDS Autosomal recessive

Severe defects of aorta;

Sudden arterial dilatation requiring emergency surgical repair;

Sudden death

Peripheral vascular disease;

Aneurysm and hemorrhages

It is associated with mutations in the COL1A2 gene. COL1A2 encodes proα2(I) chain;

Two proα1(I) chains (encoded by COL1A1) and one proα2(I)chain (encoded by

COL1A2) associate to form Type 1 procollagen fibrils
Vascular Type (vEDS) Arterial-ecchymotic type (EDS Type IV) Autosomal dominant

Thin, translucent skin;

Arterial/intestinal (colon)/uterine fragility or rupture;

Extensive bruising;

Typical facial appearance

Acrogeria;

Hypermobility of small joints;

Tendon and muscle rupture;

Talipes equinovarus;

Early-onset varicosis;

Arteriovenous, carotid-cavernous sinus fistulas;

Pneumo(hemato)thorax;

Gingival recession;

Positive family history;

Sudden death in close relative(s)

Structural anomalies in the proa1(III) chain of collagen Type III encoded by the COL3A1 gene
Hypermobility (hEDS) Hypermobile type (EDS Type III) Autosomal dominant

Hyperextensible, smooth, velvety skin;

Generalized joint hypermobility

Recurring joint ...

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