What is Collagenopathy?

At Genetics.ie, we offer a wide range of genetic testing services under the supervision of our founder, Dr Willie Reardon. Today we look at collagenopathy, what it is and how the many types of the condition are categorised. We’ll begin by providing a definition of the problem.

A Rare Group of Connective Tissue Disorders

Collagenopathy is a term that covers a group of rare disorders that affect the body’s connective tissue. Connective tissue supports the body’s organs and joints, providing a framework for the mechanics of internal organ position and function and collagenopathies refer to disorders of collagen which may manifest clinically in disorders such as excess joint laxity, weakness of the arteries, propensity to haemorrhage, scoliosis and a host of other clinical signs.

What are collagens? They’re complex molecules that provide elasticity, strength and structure to the connective tissue, and type II and type XI collagen are typically grouped together as they’re both components of a cartilage type found in the spinal column, inner ear and the jelly-like vitreous fluid in the eye.

Connective Tissue Dysplasia

Also referred to as connective tissue dysplasia, collagenopathy covers a range of disorders that are caused by a weakness in the connective tissues, including the tendons, ligaments, bones and skin. Symptoms of the condition include:

●        Hypermobility (Too much joint movement)

●        Joint Contractures (Not enough joint movement)

●        Fragile ligaments, blood vessels or skin

●        Degenerative disease of the joints

●        Scoliosis

These disorders can be variable due to those affected experiencing different symptoms, but most types of connective tissue dysplasia will follow established inheritance patterns. It’s these patterns that allow Clinical Geneticists to recognise these disorders and then to provide families with information about the inheritance of these conditions.

These Disorders can be placed in the following broad groups:

●        Ehlers-Danlos Syndromes (EDS)

●        Marfan Syndrome & related disorders

●        Skeletal dysplasias

●        Brittle bone disorders

Genetic testing can be used to identify family members who may share a genetic mutation and therefore be at risk of developing the disorder. Also, others who have not inherited the family disorder can be identified, meaning that they may be discharged from medical follow up.

Providing the Important Answers You Need

Collagenopathy, or the risk of developing it, is just one of the health issues that can be determined using genetic testing. From our Blackrock clinic, we provide our patients with the important answers they need, with services ranging from prenatal genetic testing to chromosome disorders and more.

If you’d like to know more about us and the comprehensive range of genetic testing we offer, visit us today at www.genetics.ie. Alternatively, to speak with us about anything discussed here, call us on 01 206 4329, where our expert team is ready and waiting to help.