What Are Connective Tissue Disorders?
Connective tissue disorders are exactly what they sound like: a group of conditions that affect the connective tissues that hold the body together. Connective tissue is like the brick and mortar of the body. It provides structure, strength, and flexibility to your skin, joints, blood vessels, and organs.
When the key building blocks of this tissue do not form or function properly, it can lead to a connective tissue disorder (CTD). These differences can affect many parts of the body, causing symptoms like joint hypermobility, stretchy or fragile skin, easy bruising, chronic pain, and, in some cases, risks for aortic aneurysms or organ rupture.
Because the symptoms of connective tissue disorders often overlap, identifying the underlying cause can be tricky by just looking at someone from the outside. That is where genetic testing for connective tissue disorders can make a difference. Genetic testing can help confirm or refine a diagnosis, guide medical management, and inform family members about potential risks.
The Genetics of CTDs
Many well-known hereditary connective tissue disorders are monogenic, meaning they are caused by a single gene change. Examples include:
Marfan syndrome (MFS)
Loeys-Dietz syndrome (LDS)
Classical or vascular Ehlers-Danlos syndrome (cEDS, vEDS)
Genetic testing is available for these types of CTDs where there is an established gene-disease connection. This means that research has identified which gene is responsible for causing the condition.
For patients who present with features such as tall stature, joint hypermobility, or a family history of aortic aneurysms, genetic testing can provide clarity and allow for personalized recommendations for surveillance, treatment, and lifestyle adjustments.
The tricky part is that not all connective tissue disorders can be explained by a single gene. Conditions like hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorder (HSD) are thought to have multifactorial or polygenic causes, meaning that multiple genes, combined with environmental and lifestyle factors, contribute to a person’s symptoms.
Unlike classical or vascular EDS, there is currently no specific genetic test for hEDS. Instead, diagnosis relies on clinical evaluation, detailed family history, and exclusion of other genetic conditions. That said, research is ongoing, and genetic testing can still be useful to rule out other forms of EDS or related connective tissue diseases that require different monitoring or care.
If you experience hypermobility or other connective tissue concerns, meeting with a genetic counselor at Golden Genetics can be a helpful first step. Genetic counselors can review your medical and family history, determine whether genetic testing may be appropriate, and explain what test results could mean for you and your loved ones.
Key Takeaways
Connective tissue disorders are complex, and their causes can range from single-gene variants to multifactorial influences. Whether you are navigating a known diagnosis or simply wondering if genetics could be part of your story, testing can provide valuable insights and empower you to make proactive choices about your health.
If you suspect a connective tissue disorder, we’d love to support you. Schedule a consultation with our genetic counseling team to explore whether genetic testing may be right for you.
