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What is Ehlers-Danlos syndrome?
Read about
Ha-Joint-Formula presented in simple easy to understand language |
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Ehlers-Danlos syndrome (EDS) is a rare genetic
disease that is caused by a defect in the collagen synthesis. It primarily
affects the skin, joints and the walls of the blood cells. Collagen is a fibrous
protein that is one of the major components of connective tissue. Collagen
fibers give connective tissues - skin, tendons, ligaments, cartilage, and organ
and blood vessel walls - their strength and elasticity. These genetic
mutations are passed on from parent to child. Mutations in these genes usually
alter the structure, production, or processing of collagen or proteins that
interact with collagen. The syndrome is named after two dermatologists - Edvard
Ehlers (Danish), and Henri Alexandre Danlos (French) who separately reported it
in 1901 and 1908.
Symptoms of EDS are most often skin and joint related and may include
Joints loose/unstable joints which
are prone to frequent dislocations, joint pain, hyper-extensible joints, and
early onset of osteoarthritis.
Skin soft velvet–like skin, skin
hyper-extensibility, fragile skin that tears or bruises easily, severe scarring,
slow and poor wound healing, and development of fleshy lesions associated with
scars.
Miscellaneous/Less Common
debilitating musculoskeletal pain, arterial/intestinal/uterine fragility or
rupture, scoliosis at birth, poor muscle tone, mitral valve prolapse, and gum
disease.
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Types of EDS
Earlier, experts had divided Ehlers-Danlos syndrome into 11 subtypes.
In an attempt to simplify these classifications, scientists
reorganized the subtypes in 1997 into six different groups:
Hypermobility Symptoms
include easy bruising, velvety-smooth skin, mildly hyperextensible
skin, and loose, unstable joints. Joint dislocations are common.
Degenerative joint disease can occur and the pain associated with this
condition is a serious complication.
Classical Hypermobility,
soft, highly elastic, velvety skin which may tear, bruise, or scar
easily and be slow to heal, and which has a tendency to develop benign
fatty growths as well as benign fibrous growths on pressure areas.
Vascular This type is
clinically serious reducing life-expectancy to around 40 years. Joint
symptoms are usually limited to the fingers or toes, but the delicate
skin is worsened by fragile blood vessel walls and organ membranes
with a tendency to rupture or develop aneurysms. Distinctive facial
features associated with this type are protruding eyes, small chin,
thin nose and lips, and sunken cheeks.
Kyphoscoliosis This
condition is very rare with fewer than 60 cases reported. Symptoms
include progressive scoliosis, severe weakness of muscles, and fragile
sclera (whites of the eyes).
Arthrochalasis
Symptoms include very loose and unstable joints leading to early
and/or severe osteoarthritis and fractures, and stretchy, fragile
skin.
Dermatosparaxis This is a
very rare condition with about 10 cases reported. This variant is
characterized by loose and unstable joints with extremely fragile skin
which loses elasticity
There is no cure for EDS. Treatment focuses primarily on managing
individual signs and symptoms. To control pain, pain relievers along
with physical therapy may be prescribed. An exercise program to
strengthen muscles and stabilize joints can help in controlling the
symptoms. People with EDS need to avoid activities that put pressure
on locked joints, such as weightlifting. |
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