Ehlers-Danlos Syndrome

Ehler’s-Danlos syndrome is an inherited connective tissue disorder with different presentations that have been classified into several primary types.

Age/sex prevalance of Ehlers-danlos syndrome

Both men and women are equally affected by ehler’s-danlos syndrome.
Disease is easily recognizable in early childhood.
Ehler’s-danlos syndrome is usually diagnosed in young adults.

Races affected by Ehlers-danlos syndrome

No racial predominance seems to exist.

Causes of Ehlers-danlos syndrome

• Collagens are a family of proteins that are widely distributed in all organs of the body. Thirteen different subtypes are known and the number increases constantly.
• The joints, blood vessels, and skin have different kinds of collagen in their structure; in all these locations, collagen is organized into bundles.
• Collagen organization is not easily visible by means of light microscopy, and abnormalities are better detected with electron microscopy.
• Collagen disorganization and/or abnormal bundle size is correlated with clinical evidence in the joints, skin, and blood vessels.
• In Ehlers-Danlos syndrome, skin collagen alteration can be seen in the reticular dermis.
• Two abnormalities are evident: irregularities in the diameter of the fibrils and irregular collagen shapes.
• Fibrils can be large and irregular in some types (types I-III), but they can also be small or varied in others.
• The most severe form of Ehlers-Danlos syndrome, type IV is the best studied; biochemically, this type has decreased or absent type III collagen synthesis. Pathologic findings in other skin layers are visible but nonspecific.

Ehlers-danlos syndrome Sign and symptoms

Depending upon the part of body involved in the syndrome the signs and symptoms are as follows -
Symptoms of musculoskeletal are as follows:-
• Hyper-flexible joints
• Unstability of joints due to which they are prone to -
Sprain
Dislocation
Subluxation
Hyperextension
• Early onset of advanced osteoarthritis
• Swan neck deformity of fingers
• Chronic degenerative joint disease
• Weak muscle tone in infancy which can delay the development of gross motor skills such as sitting, standing and walking.
• Osteopenia
• Stretchy ligaments and tendons
• Tearing of tendons or muscles
• Deformities of the spine such as
Scoliosis
Kyphosis
Tethered spinal cord syndrome
Occipitoatlantoaxial hypermobility
• Myalgia and arthralgia which are severe in form
• Trendelenburg’s sign
• Osgood-schlatter disease

Skin ailments appearing in ehlers danlos syndrome are as follows:
• Skin become fragile that tear easily
• Rebundant skin folds.
• Subcutaneous spheroids
• Fatty growths on forearms or shins
• Angioplasia
• Abnormal wound healing and scar formation, leading to widened atrophic scars.
• Stretch skin with a velvety texture.
• Easy bruising which can be severe.

Cardiovascular features found are as follows
• Life threatening carotid-cavernous fistula
• Postural orthostatic tachycardia syndrome
• Dilation or rupture of ascending aorta
• Cystic medial necrosis
• Varicose veins
• Vascular skin conditions: raynaud’s phenomenon, livedo reticularis

Other manifestations included are as follows:
• Early-onset periodontitis
• Blue sclera
• Retinal detachment
• Flat feet
• Digestive disorders such as gastritis, gastroesophageal reflux disease, diverticulitis, gastroparesis
• Hiatus hernia
• Anal prolapsed
• Dysautonomia
• Vulnerability to chest and sinus infections
• Collapsed lung
• Arnold-chiari malformation
• Cranial instability
• Migraine
• Platelet aggregation
• Bleeding diathesis
• Petechia

Investigations of Ehlers-danlos syndrome

The diagnosis can be made by an evaluation of medical history and clinical observation.
The beighton criteria can widely used to assess the degree of joint hypermobility.
Both DNA and biochemical studies can be used to identify the affected individuals.
Diagnostic tests include -
• Collagen typing via skin biopsy
• Collagen gene mutation testing
• Echocardiogram
• Lysyl hydroxylase
• Oxidase activity

Treatment for Ehlers-danlos syndrome

The goals of pharmacotherapy are to prevent complications and reduce morbidity.
Vitamin C is also help to improve life expectancy. It is a critical cofactor for collagen fibril synthesis.
Ascorbic acid is helpful for collagen synthesis and tissue repair.

Complications of Ehlers-danlos syndrome

• Early-onset periodontitis
• Blue sclera
• Retinal detachment
• Flat feet
• Digestive disorders such as gastritis, gastroesophageal reflux disease, diverticulitis, gastroparesis
• Hiatial hernia
• Anal prolapsed
• Dysautonomia
• Vulnerability to chest and sinus infections
• Collapsed lung
• Arnold-chiari malformation
• Cranial instability
• Migraines
• Platelet aggregation
• Bleeding diathesis
• Petechia

Prognosis of Ehlers-danlos syndrome

Ehlers-danlos syndrome type ІV is a severe form, and patients with this disease often have a shortened lifespan.
• Arterial aneurysms, valvular prolapsed and spontaneous pneumothorax are common complications.
• Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel.

Differential diagnosis of Ehlers-danlos syndrome

• Loeys-dietz syndrome
• Cutis laxa
• Pseudoxanthoma elasticum