EDS Symptomsimage: michal marcol
SYMPTOMS
SKIN Hyperextensibility seen in all types except for VEDS, which has noticeably translucent skin with visible veins. When skin is over-stretched it retains normal elastic recoil and snaps back once released. This is best tested at the neck, elbows, or knees. Cutaneous Fragility Easy splitting of the skin is particularly common in Classical Type. Gaping, 'fish-mouth' or 'cigarette paper' scars follow minimal trauma over sites of bony prominence and areas prone to trauma such as the forehead, chin, elbows, knees, and shins. Epicanthic Folds These are additional symmetrical folds of skin at the inner aspects of the eyes producing apparent broadening of the nose. Molluscoid Pseudotumours Firm, fibrous lumps measuring up to 2-3cm which develop over pressure points such as the elbows and knees. Spheroids Approximately one third of affected individuals describe small, firm nodules like 'ball-bearings' just beneath the skin (sub cutis). These consist of fibrotic and calcified fat on bony areas such as the shins. Piezogenic Papules Small, soft, skin-coloured lumps on the side of the heel when standing and disappear when the foot is elevated. Although usually symptom-less they can occasionally be painful. Varicose Veins These are more common with EDS than in the general population. |
JOINTS
Joints are hypermobile (lax) due to the extra elasticity of the ligaments resulting from the collagen abnormality.
This makes them susceptible to subluxation and dislocation. Often occurs without significant trauma as would be necessary to cause dislocation in somebody who does not have EDS. Those with VEDS do not generally exhibit joint laxity.
Pain is a common feature with hypermobile joints, even when X-Rays are normal.
The pain can be widespread and debilitating.
It may not be proportional to clinical presentation (i.e. doctors may expect the patient to have less pain based on physical signs).
It often does not respond to normal painkillers, and therefore can be difficult to control.
Joints are hypermobile (lax) due to the extra elasticity of the ligaments resulting from the collagen abnormality.
This makes them susceptible to subluxation and dislocation. Often occurs without significant trauma as would be necessary to cause dislocation in somebody who does not have EDS. Those with VEDS do not generally exhibit joint laxity.
Pain is a common feature with hypermobile joints, even when X-Rays are normal.
The pain can be widespread and debilitating.
It may not be proportional to clinical presentation (i.e. doctors may expect the patient to have less pain based on physical signs).
It often does not respond to normal painkillers, and therefore can be difficult to control.
BRUISING AND HAEMATOMAS
Easy bruising as a result of minimal trauma.
This is due to increased fragility of dermal blood capillaries and poor structural integrity of the skin.
When bruising presents in a child it may be incorrectly attributed to abuse.
Easy bruising as a result of minimal trauma.
This is due to increased fragility of dermal blood capillaries and poor structural integrity of the skin.
When bruising presents in a child it may be incorrectly attributed to abuse.
HEART
Mitral Valve Prolapse is quite common and should be diagnosed by echocardiography, CT or MRI.
Fast and irregular heart beats (tachycardia and arrhythmia).
Dilation and/or rupture of the aorta.
Mitral Valve Prolapse is quite common and should be diagnosed by echocardiography, CT or MRI.
Fast and irregular heart beats (tachycardia and arrhythmia).
Dilation and/or rupture of the aorta.
DYSAUTONOMIA (DYSFUNCTION OF THE AUTONOMIC NERVOUS SYSTEM)
Lots of symptoms, including (but not limited to) tachycardia, dizziness, fainting, chest pains, falls in blood pressure, fatigue, constipation, delayed gastric emptying, etc.
Symptoms can vary greatly from person to person, with some being very badly affected and others only experiencing mild symptoms.
Lots of symptoms, including (but not limited to) tachycardia, dizziness, fainting, chest pains, falls in blood pressure, fatigue, constipation, delayed gastric emptying, etc.
Symptoms can vary greatly from person to person, with some being very badly affected and others only experiencing mild symptoms.
PSYCHOLOGICAL
A person with EDS can look very fit and may often not be believed that they have joint pain etc. Diagnosis is often delayed and misdiagnosis is relatively common. Some forms of EDS may be misdiagnosed as child abuse/self-inflicted injury.
Where there is severe skin involvement scarring can be severe and the person needs to learn to cope with disfigurement.
A person with EDS can look very fit and may often not be believed that they have joint pain etc. Diagnosis is often delayed and misdiagnosis is relatively common. Some forms of EDS may be misdiagnosed as child abuse/self-inflicted injury.
Where there is severe skin involvement scarring can be severe and the person needs to learn to cope with disfigurement.
LESS COMMON FEATURES
Arterial, uterine and intestinal ruptures may occur due to the fragility of tissues. These ruptures are more commonly found in the Vascular Type, but also occur in other types. Inguinal and hiatus hernias are also relatively common.
Scoliosis (bend in the spine) may be present at birth or can develop in later life.
Gum disease.
Gastrointestinal diverticula.
Local anaesthetics may be less effective or not work at all.
People with EDS are also more prone to:
Cysts
Early onset Arhtritis
Chronic Fatigue (Syndrome)
Arterial, uterine and intestinal ruptures may occur due to the fragility of tissues. These ruptures are more commonly found in the Vascular Type, but also occur in other types. Inguinal and hiatus hernias are also relatively common.
Scoliosis (bend in the spine) may be present at birth or can develop in later life.
Gum disease.
Gastrointestinal diverticula.
Local anaesthetics may be less effective or not work at all.
People with EDS are also more prone to:
Cysts
Early onset Arhtritis
Chronic Fatigue (Syndrome)