Ehlers-Danlos Syndrome and Craniocervical Instability

Peter Prinsley Excerpts

Thursday 26th March 2026 Westminster Hall

[Peter Prinsley (Bury St Edmunds and Stowmarket) (Lab)]

It is a pleasure to serve under your chairship, Ms Furniss. I was not going to talk in this debate until last week, when a lady came to my surgery at Bury St Edmunds. I used to hold surgeries all the time for patients with ear, nose and throat disorders; now I hold surgeries for constituents who come with political difficulties. This young lady was in a wheelchair, and told me she had Ehlers-Danlos syndrome and that she had been to Germany to get a diagnosis, after many years of failing to get one in this country.

Ehlers-Danlos syndrome is a disorder of the protein that is involved in the making of the connective tissue—which is the tissue that joins us all together—particularly the elastic bits. When I was a medical student there were four types of Ehlers-Danlos syndrome, and it was quite a favourite topic for examine questions. But now I see from the Ehlers-Danlos Society that there are 13 recognised types of the syndrome. We always thought of it as the double-jointed disease, and one would loosely test it by seeing whether someone could take their thumb and put it against the side of their arm—I increasingly cannot even get mine to a right-angle now.

It is a rare disorder. To give hon. Members a flavour of the different sorts of Ehlers-Danlos syndrome, there is a hypermobile Ehlers-Danlos, which is the double-jointed person. That is about one in 5,000 people. The classical Ehlers-Danlos, which is where people get this very stretchy skin that kind of falls away, is about one in 20,000 people. The really frightening Ehlers-Danlos syndrome is the one that affects the lining of the blood vessels. The blood vessels have an elastic lining, and if the elastic lining fails, they begin to expand, causing aneurysms. The most frightening aneurysms are those of the main aorta, which in some patients can rupture, leading to sudden death. They can occur all over the body, however, and therefore cause all sorts of curious neurological or gastrointestinal symptoms depending on where the aneurysms are happening. That is about one in 100,000 people. There is even a dental Ehlers-Danlos syndrome, which causes the teeth to loosen and fall out. That is about one in a million people.

Given that there are many different types of Ehlers-Danlos syndrome, it is not surprising that it can be difficult to diagnose. To diagnose something, one has first to think of it. In my long career as an ENT surgeon, I saw very few cases, but I am certain that I missed many cases. I did some brief research into ear, nose and throat surgery and Ehlers-Danlos, and there is a particularly frightening situation that occurs in patients who need to have their tonsils out. Ehlers-Danlos syndrome is associated with this instability of the neck vertebrae—the cervical vertebrae; the axis and the atlas bones. When one does a tonsillectomy, one anaesthetises a patient and tips their head right back to open the mouth as wide as one possibly can. I saw a report from 2013 by Agarwal of a child who developed quadriplegia after a tonsillectomy. The tonsils were taken out, and when the child woke up, the arms and legs would not move, because the spinal cord had been compressed by the subluxation of the vertebrae.

Diagnosis is difficult, and we must first think of it. We should do what we can to educate people, particularly clinicians in medical schools and nursing schools, and even the general population. A debate such as this is certainly helpful in that respect. Research is essential. Specific genetic mutations are associated with many of the varieties of Ehlers-Danlos syndrome—sadly not the most common sort, but certainly many of the other sorts. The Minister may know that there is a proposal for universal genome sequencing of newborns and young people in this country. I do not think that future generations will have this problem of odd clinical symptoms accumulating over decades before somebody works out what has happened, because in future, people will be able to access their genomes. We will be able to predict what will happen.

However, just because we can predict it and identify the genes that are causing it, that does not mean that we will come up with magic treatments. We will certainly need to provide services for all the people with this condition into the future. Diagnostic pathways and well-organised arrangements for the clinical care of people with this presently completely incurable condition are essential.