Ehlers-Danlos syndrome: Symptoms, Complications, and Treatment
A rare but deadly disorder!
Dr. M.v Annalarasi
February 6, 2018
Ehlers-Danlos syndrome (EDS) is an extremely rare group of genetic disorders, in which the main features are hyperextensible skin (highly elastic and stretchable skin), hypermobile joints (highly stretchable and mobile joints) and tissue fragility. The incidence of the condition is only one in 5000 births. The main components of the body being victimized in this condition are the connective tissues supporting the skin, bones, blood vessels, and some more vital organs and tissues. Based on the extent of damage to the various systems of the body, the mode of inheritance and on some biochemical and molecular analyses, the condition Ehlers-Danlos syndrome is classified into almost ten types. In these subgroups, some of the features might actually overlap. Generally, people with milder symptoms do not seek help. But some of the complications are life threatening and do compromise on the quality of the life that would be led by the individual. Read on to find out the main symptoms and the treatment options available for the condition.
Ehlers-Danlos syndrome Cause
The genetic defect in the collagen fiber structure is the main cause of the condition.
Ehlers-Danlos syndrome Symptoms
The symptoms can occur anytime from birth through childhood into adolescence.
The skin of the patients with Ehlers-Danlos syndrome is extremely thin and translucent. It is so thin that the veins are seen more prominently compared to others. The chances of the skin being torn or scarred are more. The patients with the condition of Ehlers-Danlos syndrome often complain of easy bruisability: the tendency to get hurt easily. There are atrophic scars also referred to as cigarette paper scars due to the appearance.
They also present with excessive post-traumatic bleeding as there is a tendency of spontaneous rupture of the blood vessels.
Muscles and Joints
The loose joints sometimes can cause pain. People with Ehlers-Danlos syndrome are also more predisposed to develop fractures, dislocations, and osteoporosis. Also, present are the conditions of severe kyphoscoliosis, muscular hypotonia and clubfoot deformities.
Is Ehlers-Danlos syndrome serious?
Complications of Ehlers-Danlos syndrome
As for the complications specific to the cardiovascular system, the condition results in non-traumatic aortic dissections. Aortic dissection is a tear of the innermost covering of a vessel that branches off from the blood vessel called aorta. The other conditions of the heart in Ehlers-Danlos syndrome are mitral valve prolapse, tricuspid valve prolapse, and aortic aneurysm. An aneurysm is a condition in which the blood vessel wall is weakened and causes the artery to bulge or in some cases even burst.
Some of the main complications related to mother and child health care are that this condition is associated with premature labor, uterine rupture, and bleeding. The growth of the child might also be stunted.
The fragility of the vasculature or the blood vessels network leads to purpura. Purpura is a skin condition that has reddish or purplish spots that do not become white or pale when pressure is applied. In certain cases, there is an increased risk of organ or vascular rupture and may also lead to death.
In the gastrointestinal tract, the complications include rectal prolapse. Some of the patients also develop complications in their eyes, hearing loss and premature loss of their permanent teeth.
Ehlers-Danlos syndrome: Treatment
Management of patients with Ehlers-Danlos syndrome is mostly palliative and preventative. It is imperative that regular monitoring and evaluation of the nutrition, growth, eyes, heart, skin, and joints is done by a medical professional. Also, appropriate treatment of the symptoms as and when they arise should be done. For this to be possible, appropriate education should be done by the professionals to the patients and their families.
The patient and the family members have to remember that avoiding injury is important. The preventive methods for that include making their places of stay and work safe enough to avoid falls. It is in the best interests of the patients to avoid high impact sporting activities. Actions like Weightlifting, stretching, or any other that could cause the joints to lock in an unfavorable position, are to be totally avoided to prevent stress on the joints. Children with Ehlers-Danlos syndrome may sometimes playfully demonstrate the hypermobility of their joints to their buddies. Hence, the children should be strictly refrained from doing so, to prevent early degenerative joint disease.
The pain of loose joints is treated with non-steroidal anti-inflammatory medications. But, bracing or fusion of joints might be necessary to provide more joint stability and to reduce the pain. Physical therapy and occupational therapy are also some important modes of treatments. The Physical therapy facilitates the patients to strengthen their muscles without stressing joints. Occupational therapy with assistive devices is also suggested to improve the quality of life.
Skincare is also significantly important as the skin is easily damaged in a patient with Ehlers-Danlos syndrome. Anything that could potentially damage their already fragile skin, is to be strictly avoided. They should use mild soaps, avoid excessive sun exposure and adhesive bandages.
Surgery is also considered an option for the joints and ligaments repair, but the outcome is far from promising due to the inherent nature of the condition.
It is to be noted that the best management of the people with the condition of Ehlers-Danlos syndrome is at the hands of a good nursing team, who would provide the necessary care and assistance to the family as well to the patient. Also, if one has been tested positive for the gene defect or is considered a carrier, it is always best to discuss the options of starting a family with the partner after consulting a qualified physician. The advice is not to scare the reader away from birthing a child, but to know of the possibilities of complications in a child with Ehlers-Danlos syndrome.
- Textbook of Harrison’s Principles of Medicine.
- A Clinician’s Guide to Rheumatic Diseases in Children by Thomas J.A. Lehman.
- Genodermatoses: A Clinical Guide to Genetic Skin Disorders by Joel L. Spitz, and Joel L Spitz.
- Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome by Hendrik Baker & Benjamin Funke & Ingrid Hausser & Thiol Hackert & Peter Schirmacher & Frank Autschbach.