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What is Ehlers Danlos Syndrome? How to manage it? What are the precautions to be taken? What are the signs and symptoms? What is the cause of this disease? How to treat it? How can homeopathy help you? All of this answered, in this post and of course our doctors always there to help you. Just fill in your details in the form down below and we will answer all your questions for FREE!

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What is Ehlers Danlos syndrome?

Ehlers Danlos syndrome is a condition in which an inherited connective tissue disorder with different presentations of the symptoms that have been classified into several primary types.

Who is more prone to get affected with Ehlers Danlos syndrome?

Both men and women are equally affected by Ehlers-Danlos syndrome.

The disease is easily recognizable in early childhood.

Ehlers danlos syndrome is commonly seen in young adults.

What are the causes of Ehlers Danlos syndrome?

• Collagens are a group of proteins that are widely distributed in all organs of the body.

• The joints, blood vessels, and skin have various kinds of collagen present in their structure; which is organized into bundles.

• In this condition, skin collagen alteration can be observed in the reticular dermis.

• The most severe form of this syndrome, type IV.

Pathologic findings in other skin layers are visible but are nonspecific.

What are the signs and symptoms of Ehlers Danlos syndrome?

Depending upon the part of the body involved in the syndrome the signs and symptoms are as follows –

Symptoms of musculoskeletal are as follows: –

• Hyper-flexible joints

• Instability 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 delays 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

• Wound which have healed abnormally leads to widened atrophy 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

What investigations are advised in Ehlers Danlos syndrome?

The diagnosis can be made by an evaluation of medical history and clinical observation.

The Brighton criteria can widely use to assess the degree of joint hypermobility.

Both DNA and biochemical studies can be used to identify affected individuals.

Diagnostic tests include –

• Collagen typing via skin biopsy

• Collagen gene mutation testing

• Echocardiogram

• Lysyl hydroxylase

• Oxidase activity

What treatment is advised in Ehlers Danlos syndrome?

The goals of the treatment are to prevent further complications and reduce morbidity.

Vitamin C also helps to improve life expectancy. It is a critical cofactor for collagen fibril synthesis.

Ascorbic acid is helpful for the synthesis of collagen and helps in repairing the tissue.

What are the 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

What is the 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 may happen due to visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel.

What is the differential diagnosis of Ehlers Danlos syndrome?

• Loeys-Dietz syndrome

• Cutis laxa

• Pseudoxanthoma elasticum

For more information, you can visit ehlers-danlos.com.