By Dr N.P. Burrows MB MRCP

A visit to the geneticist is often arranged to either confirm the diagnosis of Ehlers-Danlos Syndrome (EDS), or to further categorise the affected individual into one of its sub-types.

You will be asked lots of questions

1. It will be necessary for the doctor to take a detailed history about your problems. This will include questions about pregnancy/delivery of any children: the age you started to crawl and walk (as these milestones are often delayed in EDS sufferers); problems regarding scarring; bruising; loose joints; dislocations; hernias; previous operations and other medical illnesses etc.

2. In addition, if relevant, the geneticist will wish to obtain information as to whether there are other affected family members in order to obtain an accurate family tree. It is therefore useful to find out as much as you can from your relatives prior to the consultation.

You will be examined

The main examination will involve the skin and joints although it will vary depending on each individual's particular problem.

Skin

The doctor will examine your skin looking for scars particularly on the face, knees and elbows and will determine how stretchy and soft your skin is.

Joints

You will be asked to bend your fingers, elbows and to touch the floor to assess whether you are double jointed.

Investigations

It might be decided that no investigations are necessary. If enough information is obtained by history and examination. For the majority however, a small skin biopsy (sample) will be suggested.

If you are less than 10 years old a biopsy will be taken from an affected parent/relative, if at all possible. This is a very quick and easy procedure performed under local anaesthetic. A small 4 mm sample is taken from the upper inner arm, to study the structural components in the skin. Any bleeding should be minimal, even with the history of prolonged or excessive bleeding. One or two stitches will be required and your local General Practitioner or nurse can remove these after 7 - 10 days.

If the EDS runs through your family, the geneticist may request a blood sample from as many family members as possible. Both affected and unaffected individuals are important for comparison. These blood samples may be used for research purposes because as yet there is no routine genetic (DNA) test available.

In addition, it is most likely that you will be asked for permission for photographs to be taken of your skin and joints.

Summary

Remember that the geneticist is used to seeing families with inherited conditions and if relevant, it is useful to bring as many family members as possible (check with the department first) the consultation can take up to an hour including the investigations. It is very useful to write down beforehand any questions that you may want to ask.

The views expressed are those of the author(s) and should not be construed to represent the opinions or policy of the Ehlers-Danlos Support Group or it's Trustees.

MEDICAL ADVISORY PANEL

Prof P Beighton MD PhD FRCP DCH, Prof H A Bird MD FRCP, Prof R Grahame MD FRCP FACP, Dr D Merrild MD MPH, Dr N Burrows MD MRCP, Mr A P Barabas MD FRCS, Mr A I Attwood MB BS FRCS (Edin), Prof F M Pope MD FRCP