Neuro Diseases: Ehlers Danlos Syndrome

Introduction

Ehlers Danlos Syndrome (EDS) is a hereditary condition and falls under the category of connective tissue disorders.

Connective tissues have a very important role in supporting and/or binding other tissues and organs in the body. In EDS the collagen type of connective tissue is abnormal.

EDS is a generalized type of connective tissue disorder and can involve almost any tissue organ that contains collagen. Skin, joints, visceral organs, blood vessels etc are commonly involved in this disease.

The severity of the disease varies from mild, when mostly non vital organs are involved to serious when the vital organs like brain, blood vessels etc are involved.

What causes EDS?

EDS results due to genetic mutations and there are many different types of them responsible for this disease. These mutations result in the improper synthesis of collagen. This defective collagen cannot function properly and results in varieties of disease conditions.

Majority of EDS are AD (autosomal dominant) and the remained are AR (autosomal recessive) in their inheritance pattern. AD type inherited disease can be acquired with only one parent having the abnormal gene, where as AR type is acquired only if both parents have the abnormal gene.

EDS is generally classified into 6 major subtypes.

Clinical Conditions & Manifestations

Hyper mobile (loose) joints and hyper elastic (loose) skin are two of the most characteristic features of this disease. Joint dislocations, easy bruisability, kyphosis, scoliosis of the spine etc are few other features.

From a neurologist's point of view the following conditions can occur;

• Cerebral aneurysms
• Peripheral Neuropathies
• Cranial Neuropathies
• Muscle diseases
• Dissection of carotid and/or vertebro basilar arteries
• Carotid cavernous sinus fistula development etc

It is the type 4 that most likely will present with brain aneurysms and other blood vessel abnormalities.

Diagnosis

The EDS diagnosis is suspected clinically with its characteristic features. A skin biopsy and/or genetic test may help in confirming the diagnosis.

Patient may require a thorough evaluation of different organs of the body since the disease is generalized in nature.

Treatment

There is no curative treatment for this condition so management is supportive & symptomatic. Corrective orthopedic surgeries are frequently needed.

A neurologist involves in the care of patients with Ehlers Danlos Syndrome when there are neurological diseases related to it.



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