Connective tissue disorders (CTDs) are a group of conditions that affect the tissues that support the skin, joints, blood vessels and organs. Of the conditions, two of the most common examples are Ehlers-Danlos syndrome (EDS) and Marfan syndrome. Clarity Genetics provides clinical assessment for people who may have a connective tissue disorder, including EDS, with care taken to listen to your experience in understanding how we can best assist you.
Connective tissue is the material that gives the body structure and support. When connective tissue does not form or function as usual, it can affect a wide range of areas, including the joints, skin, blood vessels, and internal organs. Connective tissue disorders are a broad group of conditions that can affect people quite differently from one person to another.
Common features can include joint hypermobility, skin that feels different to the touch, joint pain, joint dislocations, and fatigue. For many people, the condition can have a significant impact on their daily life. Many people seek a clinical assessment because their experience has not been fully understood elsewhere. A detailed genetics review can be helpful in itself.
Ehlers-Danlos syndrome is one of the most recognised connective tissue disorders, and the term EDS is an umbrella that covers multiple subtypes. The different subtypes share common features but also have important differences, and they are managed in different ways. The most common subtype is hypermobile EDS. This is generally diagnosed on clinical features rather than by a genetic test.
Other EDS subtypes are less common and may be associated with a specific genetic change. A clinical genetics assessment looks carefully at your features, your history and your family history, and helps clarify whether one of these subtypes, or another connective tissue condition, may be relevant to you.
The first part of the assessment is always clinical evaluation. A clinical geneticist will discuss your symptoms and history in detail and carry out a physical assessment, which is an important part of the appointment. Because physical assessment is involved, in-person attendance is preferred for your first consultation.
Genetic testing is not always indicated. For hypermobile EDS, the most common subtype, there is no specific genetic test: the diagnosis primarily rests on the clinical assessment. For some other connective tissue disorders, genetic testing is a central part of the diagnostic assessment and care pathway. Your clinician will discuss whether DNA testing is likely to be helpful in your case and where this is the case, the options for testing. The aim of the appointment is to help you understand what is going on and what care or follow-up may help, rather than to push toward testing for its own sake.
A referral from a GP, rheumatologist, physiotherapist or other clinician is required to access Medicare rebates for the consultation. In-person appointments in Sydney are usually preferred for a first consultation, as a physical assessment is part of the appointment. The practice team can guide you on what information to bring and what to expect when booking.
