International Federation Of Marfan Syndrome Organizations • December 2005 • Volume 1 • No. 1
This month MARFANWORLD E-NEWS focuses on: NORWAY
|"In order to introduce a truly international form aspect on the IFMSO web site, each edition of the IFMSO Marfanworld e-newsletter will feature a different Marfan organization with text written the language of that country. The e-newsletter will focus on the different organizations in order to provide greater insight of the different groups' activities, and better communication between the world Marfan syndrome organizations. Some of the countries to be featured in upcoming newsletters will be South Africa, Australia, United States, and France."|
Den norske marfanforeningen har utviklet en reisebrosjyre, som nå skal distribueres ut til alle foreningene tilknyttet både EMSN og IFMSO. Dersom det er noen som ønsker den norske versjonene av brosjyren, ta kontakt med Marfanforeningen, c/o FFO, Postboks 4568, 0404 OSLO. E-post: firstname.lastname@example.org Ytterligere informasjon finner du på www.marfan.no
Å være en landsomfattende forening for alle som er interessert
i Marfan syndrom og andre marfanlignende tilstander.
The majority of our funding comes from the Norwegian government. We have a fund that provides support for members with needs for treatment related financial aid. We work to spread knowledge on the syndrome to members, health care providers, researchers and others with interests in Marfan syndrome. We arrange gatherings and workshops for our members. We also develop a magazine, which is circulated to members, hospitals and other health care providers. Representing our members in the dialog with the hospitals, government and other authorities, we try to improve the quality of life for people with Marfan syndrome. The Organizations board of directors consists of 9 members, and our medical advisory board consists of five specialists.
In 2002, we received a grant to revise our information folders. Shortly afterwards came the idea of also making an information brochure, to cover the needs for communicating basic emergency information when traveling. In collaboration with Gnist Design, The Norwegian Marfan Organization has developed a "Travelers Emergency Folder". It is designed to provide emergency information about Marfan syndrome in several different languages. Since it folds up like a small bus or train schedule, it is easy for people to carry it with them when traveling abroad. Despite its size however, it is written in 12 widely-spoken languages.
The EMSN was drawn into the development of the folder at an early stage, and our friends in Europe were involved in the process of how to best provide the information Therefore, it will be easy to comprehend on an international level among health providers.
We strongly believe in having an "international standard" for communicating basic information which can be easily recognized by health personnel world-wide in times of emergency. To achieve this goal, it is a big step in the right direction that IFMSO has approved of this work, and wants to see it developed even further. We hope all of you can make use of our folder, and maybe also help us in translating the words into other languages that are needed for covering traveling patterns around the world. Maybe a future plan can be for the IFMSO countries to have a standard "Travelers Emergency Information folder" for traveling based on the continent one might wish to visit. Please let us hear from you in this matter!
We feel honored to have both EMSN and IFMSO on our team. Thank you! If you want to know more about us, visit www.marfan.no
wishes for the holiday!
Summary Report of the 7th International Marfan symposium
September marked the 7th International Marfan symposium held in Ghent,
Belgium. Thanks to Bart Loeys, Josephine Grima, Julie De Backer and Anne
De Paepe, we have the following summary of the meeting presentations:
1. Clinical diagnosis of Marfan syndrome: how good are the criteria ?
The clinical diagnostic criteria for MFS, defined as the Ghent nosology in 1996, have certainly increased diagnostic accuracy and are still the golden standard for establishment of a clinical diagnosis of Marfan syndrome. However, there are still some instances in which these criteria are difficult to apply. This is especially true in children, as many symptoms will only develop during adulthood and in families with variable clinical presentation. In those cases, the addition of molecular fibrillin-1 studies might add to the diagnostic accuracy. During the meeting it was shown that there is a need for some adjustments of the criteria. For example, the degree of scoliosis does not seem to be that important, so the limit of 20% could be omitted. For the ocular system, myopia should be added as a minor criterion and the other minor criteria should be reconsidered.
2. The role of fibrillin-1 mutation analysis
overview was given about the international fibrillin-1 mutation database
and how this information can be used to help understand the distinction
between classic Marfan syndrome and disorders that are also caused by
mutations in the fibrillin-1 gene but do not necessarily share the same
long-term cardiac risks.
3. Better understanding of the etiology of the Marfan syndrome leads to therapeutic promises
Detailed overview was presented of the research on how mouse models for Marfan syndrome have enabled a greater understanding of the biological mechanisms responsible for the characteristics of the disorder. For a long time, scientists believed that structural deficiency of the fibrillin-1 protein was the most important player in the etiology of Marfan syndrome. Mouse models have now shown that this structural deficiency leads to the activation of another biological pathway, namely the transforming growth factor beta signaling (TGFbeta) pathway. TGFbeta is an important growth factor that is widely present throughout the human body. Activation of this pathway plays a major role in the development of aortic aneurysms in Marfan syndrome patients. Understanding this biological pathway has given scientists not only a better understanding of the formation of aortic aneurysms but also opened new and unexpected targets for drug treatments that may define a new era in which future research will include clinical trials for new drug therapies. At the meeting very promising results from a mouse study with a new medication, called losartan, were shown. Losartan, an angiotensin type 1 receptor blocker, also has an inhibiting effect of the TGFbeta pathway and rescues the aortic growth in Marfan mice. Most importantly this medication has already a widespread use for diseases such as hypertension and heart-failure and as such is ready to be used in Marfan patients. However, randomized large scale trials in Marfan patients are now necessary to confirm the efficacy of this medication in humans before this kind of treatment can be used on a widespread basis.
4. Identification of new Marfan related disease: important implications for management
progress has also been made in the recognition of a Marfan-related disease,
which is now called the Loeys-Dietz syndrome. This disease has some features
overlapping with Marfan syndrome but is mainly characterized by the presence
of widely spaced eyes (hypertelorism), cleft palate and/or bifid uvula
and aortic aneurysms with arterial tortuosity.
5. Clinical management of cardiovascular manifestations in Marfan syndrome
of clinical management of cardiovascular manifestations and the developments
in surgical options for aortic repair highlighted the last day of the
meeting. Thanks to improved medical and surgical treatment, the median
survival has markedly increased over the past decades. It is obvious that
the major determinant of life expectancy in MFS is the progressive dilatation
of the proximal aorta, leading to increased risk for rupture and/or dissection.
The precise aetiology of this progressive dilatation is not known in detail
but it is the result of both weakness of the vessel wall and increased
local pressures. The major determinant of the risk for aortic dissection
is the diameter of the proximal aorta. Other known risk factors in Marfan
syndrome are hypertension, absence of beta-blockade, strenuous exercise,
sleep apnoea, pregnancy and aortic stiffness.
6. Application of the current guidelines in daily practice: how well are the patients served?
The Euro Heart Survey has studied application of guidelines and therapy in patients with congenital heart disease. In this survey, 800 Marfan patients were included. The survey demonstrated that clinical practice is fairly consistent with guidelines for surgical intervention. However, guidelines for imaging of the aorta are followed in only 50-60 % of cases. Every patient with MFS should undergo CT/scan or MRI at least once and in cases with dilatation and/or in postoperative cases, this exam should be repeated on a regular basis. Drug treatment in MFS patients in Europe is close to targets: almost 80% of patients are on beta-blocking therapy.
In the closing session, Dr. Peter Byers summed up by saying that it was a watershed meeting occurring at a time of tremendous research activity which not only created new insights on how fibrillin gene mutations produced each of the different aspects of Marfan syndrome but also identified new biological pathways that were targets for drug intervention with potentially dramatic and long-lasting effects. He thought that this was a critical time for research in Marfan syndrome and that the meeting created the cooperative environment in which new approaches would benefit the Marfan community and at the same time advance the scientific understanding of Marfan syndrome.
Along with the scientists came an enthusiastic group of leaders of volunteer Marfan groups from around the world. Over 25 participants of the International Federation of Marfan Syndrome Organizations came to the meeting to get state-of-the-art information. The group came together on the last evening to have a wonderful dinner and meeting where elections were held and many new and familiar faces had time to discuss the opportunities to collaborate and share ideas for their common causes. Priscilla Ciccariello, president of IFMSO was re-elected and several vice-chairs have come forward to pitch in to make this organization grow and share global ideas. Priscilla also celebrated her eightieth birthday and was presented with a beautiful crystal heart. Finally, Dr Anne De Paepe also honored the everlasting efforts from Yvonne Yousten, president of the Association Belge du Syndrome de Marfan and dedicated the meeting to her deceased son, Patrick. In his memory, Yvonne was thanked for her involvement in organizing this meeting.
C/O National Marfan Foundation
22 Manhassett Avenue
Port Washington, NY 11050
news from IFMSO members:
Yoko Shimozaki, IFMSO Vice President, has updated us on some recent activies of the Marfan Network Japan:
"Thank you for your showing interest in our activity in Japan. Let me tell you more detail .
The things started with our guidebook for Marfan syndrome we made last year. A young cardiologist named Shigekiyo Takahashi is a medical doctor of Kizawa Memorial Hospital in Gifu Prefecture where Masayo(the founder
of MNJ) was taken at her first aortic dissctiton ten years ago. There she was not diagnosed to have Marfan syndrome and they could not find her dissection either. Dr. Takahashi was not there of course ten years ago but he felt some kind of responsibility after reading the guide book which was sent by Masayo's parents to the hospital. So he decided
to have an occasion to let the emergency staff and staff of the hospital know about Marfan syndrome. There were three speakers on that day (28th of Nov.). The first one is of course Dr. Takahashi who talked about Marfan syndrome and its characteristics. Then Masayo's husband talked about the importance of emergency situation and lastly I talked about my own experience as the affected and our organizational activity. I showed them several photoes from Baltimore and Ghent too. The number in audience was about 80, though we did not expect so many in advance in such a local town. The event was successful and many said they had not known about Marfan syndrome before. Dr. Takahashi said "This is just a first step for us". We will continue to follow-up on this meeting.
Yours, Yoko Shimozaki."
Marfan Network Japan
We received this informative and interesting e-mail from Geraldine (Mexico) on December 13th, 2005:
Dear IFMSO members,
I hope this letter finds everyone well. It's been a letter long in the waiting but with the busy lives we all lead, it has become a luxury indeed. Life in this fast-paced city of ours is sometimes a little less than a nightmare. I still work full time as the Directory of language Studies at the Universidad of the Americas here in Mexico City and manage to preside over Marfan de Mexico, A.C. The association has grown and we are happy but we feel that the culture still has some way to go with the acceptance of being different. That attitude has changed considerably since we began but nonetheless still leaves room for improvement.
Going back to our beginnings, our story has been a process of patience, perseverance, and persistence as I'm certain many have experienced. We began as a contact - support group and were lucky to attend the Marfan Conference in San Francisco, in November, 1992. Now that was exciting if you recall. We represented seven countries and signed the first papers for the World Federation. In 1998, we were legally recognized by the Mexican government making us the only Spanish - speaking association in the world. As there was no material available in Spanish for the general public at the time, we had the enormous job just in translating medical information. Shortly after this, Cuba became the second Spanish-speaking association. They, also, began the tremendous job of spreading information about Marfan in Cuba.
Our web page currently under construction first appeared in 1998. We were so swamped with enquires from around the Spanish-speaking world that we consequently wrote to different countries encouraging them to begin their own associations in their respective countries. Fortunately, countries like Spain, Argentina, Chile and Peru started their own associations and have been growing.
During the years, we have published a number of brochures about the condition. With the permission of Dr. Reed Pyeritz and Cheryll Gasner, R.N., we were able translate their booklet The Marfan Syndrome making it the first edition in Spanish in October, 2003. Also, thanks to one of our TV stations, we were able to produce a video on the condition. In February, 2004, a wonderful book for youth was written and published. All of this material was shared and sent to our fellow Spanish -speaking Marfan groups.
In Mexico, medical investigation on Marfan especially in the National Institute of Cardiologia Ignacio Chavez had presented a number of important publications in those early years and continues to this day. In 1996, the multidisciplinary team of researchers under the lead of Dr. Carlos Pineda at this institute presented their work in Belgium:
The Musculoskeletal Manifestations of Marfan Syndrome (MFS). Its Frequency and Coexpression.
In 1998, they published their work:
Revised Diagnostic Criteria for the Marfan Syndrome - A Clinical Radiographic Essay.
This was only the beginning and this year alone 2005, they produced important findings for three papers. Those, we scanned and will send them to you under attachment in separate letters. Dr. Carlos Pineda was awarded Honorable Mention for his work in Marfan by the Mexican Rheumatology Association early this year.
Mexico and Canada will hold a first joint Rheumatology congress in Acapulco in February, 2006 in which Mexico will present their project:
The Relationship between Coxa Valga and the Major Diagnostic Criteria for the Marfan Syndrome
We have asked for permission to set up an information stand on Marfan at this Congress.
In addition, we have had a specialized clinic for Marfan patients under the care of a multidisciplinary medical team at the above mentioned institute since the mid nineties.
And that is our story. It's been a challenging undertaking. But, it is only with a united front that we can move toward finding a cure for this condition. Hopefully, another dream some day, we will be able to have a conference for all Spanish-speaking Marfan associations in the world.
had a nice "Best regards," e-mail from Nicolas Beltran Sogorb,
(Presidente de SIMA), who is doing a great job in the Marfan organization
in Spain. (SIMA Asociación de Afectados Síndrome de Marfan.)
You can contact him at his e-mail: email@example.com,
or SIMA web site: www.marfansima.org
Check out his web site when you have a chance. (You can use the IFMSO
links to the different IFMSO organizations, if you wish:
IFMSO membership information and forms are available on the IFMSO Official Website at MARFANWORLD.COM
Copyright © 2005 International Federation of Marfan Syndrome Organizations