EHLERS-DANLOS SYNDROME (EDS)

PRESENTED BY:
SUMAIYA MUHAMMAD
What is Ehlers-Danlos Syndrome (EDS)?

 EDS is a group of genetic disorders that affect the connective tissues of

the body.
 It affects the collagen production which is needed to give strength and
elasticity to the connective tissues.
 It can affect the skin, ligaments, blood vessels, joints, and other organs.
 People with EDS have very loose, hypermobile joints.
 Their skin is stretchy and fragile.
 It varies from patient to patient.
 Incompletely understood group of inherited disorders.
 A diagnosis that many patients make on their own.
 EDS symptoms may start at an early age, however, for many individuals
it takes many years or decades to receive a confirmatory diagnosis and
initiate proper treatment.
Why difficult to pronounce names?
 
 It was first described by Hippocrates in 400 BC.
 Edvard Ehlers, in 1901, recognized the condition as a distinct
entity.
 In 1908, Henri-Alexandre Danlos suggested that skin
extensibility and fragility were the core features of the syndrome.
How common is EDS?
The overall prevalence of EDS is between 1 in 3,500 to 1 in 5,000 people. 

What causes EDS?

EDS is caused by a genetic disorder, and there are many different genes that
can be affected. Some types of EDS can be passed from parent to child
(heritable), others result from a gene mutation.
EDS Symptoms

 Joint
Subluxations/Dislocations, Pain, Arthritis

 Skin
Easy bruising, Bleeding, Scarring

 Cardiovascular
Postural orthostatic tachycardia syndrome (POTS),
Leaky valves, Enlarged aorta, Aneurysms
 Gastrointestinal
Gastroparesis, Pain, Nausea, Vomiting, Diarrhea, Constipation

 Neurological
Headaches, Numbness

 Allergic
Rashes, Food sensitivities and allergies, Asthma, Autoimmune disorders
Difficulties in Diagnosing EDS

Medical students have been taught for decades that,

“When you hear hoofbeats behind you, don’t expect

to see a zebra.”

In other words, look for the more common and usual,

not the surprising, diagnosis.
EDS has many symptoms.
 Types of EDS

The 13 types of EDS are:

 Dermatosparaxis
 Hypermobile  Kyphoscoliotic
 Classic  Brittle cornea
 Classic-like  Spondylodysplastic
 Cardiac-valvular  Musculocontractural
 Vascular  Myopathic
 Arthrochalasia  Periodontal
 Most common forms of EDS

Classical Hypermobile Vascular

 Hypermobile EDS (Type III)

It is the most common type of the disease.

• Joint dislocations  Abdominal discomfort

• Joint hypermobility  Malabsorption of nutrients

• Easy bruising  Diarrhea or constipation

 Soft and stretchy skin.  Extreme tiredness (fatigue)

 Dizziness  Chronic pain

 POTS  Frequent headaches

The diagnosis is based on a person's medical history and physical examination.

 Classical EDS

Classical EDS affects more the skin but will also have
joint hypermobility and organ prolapse.

 Loose joints
 Stretchy and soft skin that tears easily
 Paper thin scars
 Poor wound healing
 Chronic bruising and scarring of the shins

It is caused by mutations in either the COL5A1 or COL5A2 gene.

 Vascular EDS (Type IV)

It is a rare type of EDS and is often considered to be the most serious.

 Skin bruises easily

 Thin skin with visible small blood vessels

 Fragile blood vessels that can bulge or tear

 Hypermobile fingers and toes,

 Unusual facial features (thin nose and lips, large eyes, small earlobes)
 Spontaneous visceral perforation (especially sigmoid).

Problems unique to vEDS (blood vessel or organ rupture) occur by age 30 in many patients.
 Genetics of EDS

 A genetic disease occurs when a portion of a person’s gene has an

abnormality in it that causes a certain protein to be made incorrectly.
 This abnormality in the gene is called a “mutation.”
 Some mutations occur in both copies of a gene to cause a disease. This is a
Recessive disorder.
 A Dominant disorder occurs if just one copy of a gene is abnormal.

 Most types of EDS are inherited in an autosomal dominant fashion.

 For unclear reasons members of the same family can vary quite a bit in
how EDS affects them.
 Beighton score

How to diagnose EDS?

The diagnosis involves an assessment of hypermobility of the

thumb, pinky finger, elbows, knees and the lumbar spine.

A skin biopsy is helpful to confirm the problem, but the most

definite diagnosis is genetic testing.
Treatment

There is no “cure” for EDS, but symptoms can be managed through:

 Medicines to ease pain and reduce blood pressure.

 Physiotherapy, to support bones and joints.

 Orthopedic instruments, e.g., bracing, wheelchair, and casting.

Thank you!