Experience and expertise
The St. Antonius Hospital is the centre of excellence on HHT in the Netherlands.
History and development
Since its start, the St. Antonius Hospital has had a relatively large pulmonary department. Lung operations were done frequently. One of the chest surgeons, Dr. Gelissen, retired from the hospital in 1982 and a symposium was organised and one of the topics was the surgical treatment of PAVMs. At that time, only 15 patients from a few families were known. But that was the start of a centre for HHT. The question arose as to why the remaining family members had not been examined for this hereditary – and thus familial – disease. Another question was whether embolization of PAVMs should replace the traumatic lung operations.
A systematic examination of the members of the few known families was started in 1996 and many new patients were diagnosed. This successful family screening programme became the subject of lectures and publications, which added to the national and international reputation of the Dutch centre. New patients and new families came to the centre and the work expanded from there on.
One of the lung specialists visited Prof. White at Yale University, USA, in 1988 to see whether embolization of PAVMs could replace lung surgery. This appeared to be the case and at present over 400 patients have been embolized in the St. Antonius Hospital.
Embolization of a PAVM is a special procedure which requires a lot of experience. Many new patients have been referred to the St. Antonius Hospital for embolization because it has a leading position for this type of procedure in the Netherlands.
In 1995, Dr. Israels, a paediatrician, founded an association for Dutch patients with HHT under the auspices of the Dutch Society for Patients with Vascular Diseases (Hart- & Vaatgroep). The doctors of the St. Antonius Hospital organised information sessions for its members.
Now there is a large centre for HHT with more than 1600 patients and 200 patients are screened annually. The centre is now one of the largest in the world and enjoys a worldwide reputation because of its many publications, and the Ph.D. theses of T. Haitjema (1995); J.J. Mager (2002) S. van den Driesche (2005), M. Post (2006), B. van Tuyl (2007)LW van Laake ( 2008 ), S Post ( 2009 ), TGW Letteboer ( 2010 ), MWF van Gent ( 2010 ) and the many oral presentations given by its staff at international and national conferences and information days for lay people.
The lung specialists still lead the centre, but other specialists are closely involved such as ear, nose and throat specialists, interventional radiologists, paediatricians, clinical geneticists, cardiologists and neurologists. The centre has many external links, e.g. with the Department of anatomy and embryology at Leiden, Antoni van Leeuwenhoek hospital, VU university medical centre and Academic Medical Centre in Amsterdam, Erasmus University Rotterdam, Martini Hospital in Groningen, the universities of Edinburgh (U.K), Dukes (U.S.), Toronto (Canada), and the patient societies of the Netherlands Antilles (FAROW) and the USA (HHT Foundation).
These external contacts are important for scientific research and to keep staff up-to-date on new developments. These contacts are also useful for consultations about unusual clinical situations.
Scientific research is necessary further improve screening modalities and treatment options. The St. Antonius Hospital is well-positioned for such research, on the one hand because of the large amount of medical data it has available and, on the other hand, because of its close cooperation with excellent laboratories.
The Foundation (Stichting) for Scientific (Wetenschappelijk) Research (Onderzoek) in Rendu Osler disease (SWORO) was founded in September 2005 to find the means to achieve the above goals (see addresses). Money is required for scientific work (to cover salaries for young researches, lab work and equipment, etc). Your contribution is well appreciated in our quest for more scientific discoveries.
The present situation
The Dutch Centre for HHT is recognised now as a centre of excellence by the Ministry of Health and is headed by Dr. R.J. Snijder and Dr. J.J. Mager, both lung physicians. They are the doctors who see new patients or their relatives and check the known patients.
Drs FJ Disch, ENT specialist, has built up a large experience in diagnosing and treating HHT. The echo-bubble test is carried out by the department of cardiology. Embolization requires experience and is done by Drs vd Heuvel, Dr A Vos , Drs M van Leersum and Dr van Dop, intervention radiologists. Mrs Corrie Bongenaar is a social worker and can advise in case of social problems. Ms. Ingrid Verheul and Ms. Wilma van Laar are nurses who takes care of patients with problems of their lung blood vessels. Ms. Liesbeth Dekter, secretary, makes appointments for screening and try to combine the various examinations on one day.
Dr. C.J.J. Westermann has an advisory position. He supervises the scientific work and controls the computer files, together with Mrs. Liesbeth Dekter, secretary. These files contain all the medical and genetic data on about 2200 patients and their relatives.
Dr. T.G.W. Letteboer is a clinical geneticist at the Department of Medical Genetics in the UMC Utrecht. He works on identifying the DNA mutations that cause HHT in the Netherlands. He also examines the relationship between the type of mutation and the clinical expression (symptoms) of the disease.
Thanks to the work in the UMC Utrecht (Prof. J.K. Ploos van Amstel) and Dukes University (USA) 86 different mutations of ALK-1 on chromosome 12 and 110 mutations of endoglin on chromosome 9 are known in the Netherlands. These 196 mutations are mainly found in Dutch families, but also in Belgian, German, Israelian, Swiss, Turkish, Servian, Italian, Maroccan, Egyptian, Iranian, Surinam and Antillean families. The type of mutation remains unknown in 8% of the families.
Professor Christine Mummery is head of the research in the laboratory for anatomy and embryology at Leiden. The research concentrates on the precise pathway that leads from mutation to vascular abnormality and on the effects of drugs for HHT. The research is partly paid by the SWORO.
The aim of the Dutch HHT centre in the St. Antonius Hospital is the optimal care of the patients. This includes:
- screening of new patients and relatives;
- treatment of dangerous and symptomatic localisations;
- guidance and information for patients and families.