The LUMC connective tissue clinic offers patient care to adults and children in whom a connective tissue disorder is suspected. The connective tissue clinic is part of the Department of Clinical Genetics at the LUMC.
What is a connective tissue disorder?
Connective tissue disorders result in many different syndromes. Features of connective tissue disorders may include hypermobile joints, fragile or elastic skin, dilation or rupture of vessels, ocular and skeletal abnormalities. Examples of specific connective tissue disorders are Marfan syndrome and Ehlers-Danlos syndrome.
Consultation at the connective tissue clinic
When a connective tissue disorder is suspected, this may lead to tests being carried out at the LUMC. Depending on the referral from your family doctor or specialist, you will receive either an appointment with a genetic counsellor or a combined appointment with several different specialists in a multidisciplinary Marfan consultation. The connective tissue consultation is coordinated by the clinical geneticist.
Consultation with the clinical geneticist
Often working together with a genetic counsellor, the clinical geneticist will build a picture of your family history and carry out a physical examination. These initial investigations will determine whether additional examinations by other specialists and DNA testing are needed.
Discussing test results
The clinical geneticist or genetic counsellor will collect the results of the various tests and examinations. On the basis of the information you provide and a physical examination, it is sometimes possible to quickly reach a definitive conclusion. If additional tests are needed, this will be agreed in advance with you and the results will be discussed at the clinic or by telephone appointment. Most results are available within 2 weeks, although DNA testing usually takes longer. The final conclusion and recommendations regarding check-ups and treatment will also be sent to you by post.
If you are diagnosed with a connective tissue disorder, the treatment will depend on the specific type of connective tissue disorder.
Our team at the connective tissue clinic
• Mw. Dr. Y. Hilhorst-Hofstee, clinical geneticist (coordinator)
• Mw. Dr. D.Q.C.M. Barge-Schaapsveld, clinical geneticist
• Mw. Dr. E.K. Bijlsma, clinical geneticist
• Mw. N. Hofland, genetic counsellor