Ehlers Danloss 3
This syndrome was regarded as hyper mobility, and was thought to be relatively benign. Over the last 8 years, following research by Prof Qasim Aziz in adults we are aware that there is a strong association with gastrointestinal problems. This has now been confirmed in children as a significant factor in intestinal dysmotility. The most common symptoms are gastro-oesophageal reflux and constipation, although in a small number it can progress to pseudo obstruction. We currently have no information as to why some patients, develop significant problems while others remain asymptomatic. This is now part of an active research program at the Royal London Hospital, in both children and adults.
It is becoming increasingly clear that an association with P.O.T.S (postural orthostatic tachycardia syndrome) carries a significant risk of worsening gastrointestinal dysmotility. This is probably via the autonomic nervous system. Symptoms of POTS are varied but include dizziness on standing, increased lethargy, headache and nausea. The management includes increasing the intake of liquids, including a drink on rising in the morning, and taking extra salt in the diet. Physical activity is important to control, both musculoskeletal symptoms, and the strength of core musculature improves the autonomic dysregulation. Drug treatment with fludrocortisone, or an alpha adrenergic drug such as Midrodine may be helpful.
A further association, recently reported, is the link with increased mast cell degranulation. This results in an urticarial rash and is often linked with an increased risk of allergies. Treatment with cromoglycate and antihistamines is often helpful.
Some patients have significant problems associated with the bladder and urinary tract. This is often distressing and requires urological investigation, and management with an urologist.
Much research is needed into this Syndrome. It is both complex, and distressing. It requires a multi-disciplinary approach with many specialists and therapies such as physiotherapy.
As a Senior lecturer, and Senior Paediatric Gastroenterologist, in the Institute of Neurogastroenterology at the Wingate Institute, Dr Meadows is currently involved in several projects.
He is the principal investigator in a long term project looking at the association between feeding difficulties in children under the age of two and gastro-oesophageal reflux. This is utilising new techniques in children, such as High Resolution Manometry, and high frequency ultrasound.
He is also a Principal investigator, with Dr David Rawat, in a series of projects looking at the gastro intestinal associations of Ehlers Danloss 3.
He is also about to commence, with Prof Sifrim and Dr Rawat, a collaborative study with the children's Hospital in Amsterdam. This is to examine the role of salivary peptin in both normal infants and those with gastro-oesophageal reflux.