Connective tissue disorders are a group of conditions that affect the tissues supporting, binding, or separating other tissues and organs in the body. There are literally hundreds of them (often referred to as Connective Tissue Dysplasias). Among these, Ehlers-Danlos Syndrome (EDS), Marfan Syndrome, and Loeys-Dietz Syndrome (LDS) are prominent. Each of these disorders presents unique challenges and characteristics but shares common themes of genetic mutations* affecting connective tissue integrity.

 

 

The Ehlers-Danlos Syndromes are a collection of disorders frequently characterised by hypermobile joints, skin hyperextensibility, and tissue fragility. In most types, it is caused by mutations in genes responsible for collagen production and structure, the primary protein in connective tissues. *The hypermobile type is the only type of EDS where a genetic marker has not been isolated.

 

There are several types of EDS, with the hypermobile type (hEDS) being the most common. Symptoms can range from mild to severe, including frequent joint dislocations, chronic pain, and cardiovascular issues. The vascular type (vEDS) is particularly serious, as it affects blood vessel walls, increasing the risk of rupture.

 

Diagnosis typically involves a combination of clinical evaluation, family history, and genetic testing. Management focuses on symptomatic relief and preventive measures, such as physical therapy to strengthen muscles around joints and avoiding high-impact activities. In severe cases, surgical interventions might be necessary, although they carry higher risks due to tissue fragility.

 

 

Marfan Syndrome is an autosomal dominant disorder affecting the body's connective tissue, primarily caused by mutations in the FBN1 gene, which encodes fibrillin-1, a protein crucial for the structural integrity of connective tissue. This disorder affects multiple systems, including the skeletal, ocular, cardiovascular, and pulmonary systems.

 

Individuals with Marfan Syndrome often exhibit distinct physical features such as a tall, thin build, long limbs, and fingers (arachnodactyly). Cardiovascular complications, especially aortic aneurysms and dissections, are the most serious concerns and can be life-threatening if not managed properly.

 

Diagnosis is based on specific criteria, which consider family history, clinical signs, and genetic testing. Regular monitoring and proactive management are crucial. Medications may be prescribed to reduce stress on the aorta, and in some cases, surgical repair of the aorta may be necessary.

 

 

Loeys-Dietz Syndrome is a more recently identified connective tissue disorder, primarily caused by mutations in the TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3 genes. LDS is characterised by aortic aneurysms, arterial tortuosity, and distinctive craniofacial features, including widely spaced eyes and bifid uvula.

 

Like Marfan Syndrome, LDS affects multiple systems and presents a high risk of arterial aneurysms and dissections. However, LDS tends to have more widespread vascular involvement and can present with aortic issues at an earlier age.

 

Diagnosis involves genetic testing and comprehensive evaluation of clinical features. Management strategies are similar to those for Marfan Syndrome, emphasising regular cardiovascular monitoring, medical therapy to stabilise vascular integrity, and surgical intervention when necessary.

 

OTs are well placed to help people with connective tissue disorders due to our holistic approach to the individual. We see the whole person, in their environment and context and can assess and utilise occupations to assist with increasing meaning & purpose. Our OT models help guide out assessment and intervention with kids and adults with CTDs and can often be of the most practical help to these individuals.

 

The upcoming course "Hypermobility for Paediatric Occupational Therapists" will explore the ins & outs of CTDs, their symptoms and impacts and how we can safely provide interventions to help achieve client goals.

 

 

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Connective tissue disorders such as Ehlers-Danlos Syndrome, Marfan Syndrome, and Loeys-Dietz Syndrome illustrate the complex interplay between genetics and connective tissue function. Despite their differences, these disorders share common themes of genetic mutations leading to structural weaknesses in connective tissues, resulting in a spectrum of clinical manifestations.

 

Advancements in genetic research have significantly improved our understanding of these conditions, enabling earlier diagnosis and better management strategies. However, living with a connective tissue disorder often requires lifelong vigilance and a multidisciplinary approach to care. For those affected, ongoing research offers hope for more effective treatments and, ultimately, improved quality of life.