馬凡氏綜合症(Marfan's Syndrome)資源中心

   
返回主頁
 麻煩病簡介

致病原因
典型病徵
診斷及治療
著名麻煩人

 麻煩病情報
麻煩病最新研究及有關消息
媒介報道 
香港傳媒
其他地區
活動推介

麻煩小組
關心您的心
其他機構

病友支援
麻煩小組簡介
麻煩一族聯誼會
聯絡方法
麻煩友心聲
病友分享經歷之園地,歡迎分享
常見問題
醫護人員提供有關麻煩病的專業意見
其他資源
醫療機構
支援組織
病人組織
網站鏈結
馬凡與網絡
聯絡網主
 
香港麻煩網--傳媒有關麻煩病之報道

其他地區傳媒報道

主題

出處

日期

罹患主動脈血管剝離 加護病房三度進出 撿回一命 病痛纏身 吳乃鈞處逆境不喪志
聯合報 2002-12-25
Marfan's Sndrome: spotting the sometimes fatal disease & successfully treating the disease Johns Hopkins Medicine 2002-6-17
TV Tragedy on 'ER' Too Often Imitates Reality 美國企業新聞社 2001-10-05
     

聯合報 2002-12-25

罹患主動脈血管剝離 加護病房三度進出 撿回一命 病痛纏身 吳乃鈞處逆境不喪志

外交部領事事務局花蓮辦事處職員吳乃鈞罹患主動脈血管剝離,三度進出加護病房才從死神手中逃了回來。歷劫歸來的他以自身遭遇,執筆寫下「無懼生命中的困阨」勵志書,希望勉勵同樣受病痛折磨或身處逆境的人,不要懷憂喪志。

剛滿三十歲的吳乃鈞,兩年前考進外交部領事事務局,正是人生最意氣風發的時候。今年七月間,他突感身體不適,被親友送入台大醫院加護病房,診治結果發現罹患了主動脈血管剝離的「馬凡式症候群」,大好前程就此蒙上陰影。

吳乃鈞在台大住了好幾個月,三進三出加護病房,強烈的痛楚讓他即使一天打上好幾支嗎啡,仍無法止痛。醫生告訴他如果開刀,有百分之五十的可能會成為植物人,甚至必須截肢,但吳乃鈞仍然憑著堅強的求生意志,逐漸恢復。然而即使暫時逃離病魔,主動脈血管剝離仍像不定期的炸彈,無時無刻不在威脅著他的生命。

在人生最輝煌的時刻染上惡疾,善良的吳乃鈞沒有浪費時間怨天尤人,反而在出院後埋首寫作,把自己多災多難的前半生寫成書,用平凡、細膩的文字,娓娓訴說著人生的酸甜苦辣,鼓勵他人珍惜生命,勇於面對生命中所有的不順遂。

昨天他發表新書,花蓮縣文化局長沈中元、外交部領事事務局花蓮辦事處主任黃長風、花蓮縣議員劉曉玫及瓊林書苑負責人鄭淑華都到場為他加油打氣。

沈中元率先認購三十本,要送給在瓊林書苑刷卡購物超過一千元的民眾。劉曉玫、鄭淑華和黃長風也跟著響應,分別認購十多本送給縣內的國中小學。

回頁首目錄

Johns Hopkins Medicine 2002-06-17

MARFAN'S SYNDROME

(原文:http://www.hopkinsmedicine.org/healthnewsfeed/hnf_1833.htm
http://www.hopkinsmedicine.org/healthnewsfeed/hnf_1834.htm)

PART 1: SPOTTING THE SOMETIMES FATAL DISEASE

40,000 Americans have Marfan Syndrome, an abnormal condition of bone, connective tissue, and blood vessels. Marfan is most visible among tall, athletic people, such as Flo Hyman, the 6 foot 5 star of the 1984 U.S. Volleyball Team. Hyman died of a ruptured aorta, a frequently fatal marker of Marfan. Diagnosing the disease can be difficult. Johns Hopkins researcher Hal Dietz says there's no biological marker for Marfan. And while height can be a tip-off, it's all relative: Someone who is 5'6" could be at risk if his or her parents are much shorter. Dietz says the syndrome has many possible indicators, including a leaky heart valve.


The combination, for example, of tall stature, loose joints, chest wall abnormalities, curvature of the spine, early near-sightedness...any of those in isolation can be common and innocent; when they're seen in combination, Marfan Syndrome should be considered: 17

Tomorrow, a look at how Marfan can be successfully treated.

At the Johns Hopkins Medical Institutions, I'm Mat Edelson reporting.

SUCCESSFULLY TREATING THE DISEASE

Thirty years ago, experts agreed that most people with Marfan Syndrome would have been lucky to reach age 50. The syndrome, which strikes 1 in 5000 people, is most prevalent in long, lanky individuals. Marfan indicates a weakening of connective tissues; most dangerously in the aorta, which over time can stretch and potentially burst. But now, Marfan can be successfully treated with a variety of medical and surgical approaches. Johns Hopkins Marfan researcher Hal Dietz:

The management principles include the use of medications to decrease the stress pushing out on the aorta, restriction of certain activities, and, most importantly, surgical repair of the aorta once it has reached a critical size of about five centimeters: 19

Though Marfan is mostly inherited, at least 25% of cases involve people with no prior family history. A
reliable genetic test for Marfan has not yet been developed.

At the Johns Hopkins Medical Institutions, I'm Mat Edelson reporting.

回頁首目錄

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
< 美國企業新聞社 > 2001-10-05
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
TV Tragedy on 'ER' Too Often Imitates Reality: National Marfan Foundation Working to Save Lives Otherwise Lost in Emergency Departments

PORT WASHINGTON, N.Y., Oct. 4 /PRNewswire/ -- According to the National Marfan Foundation (NMF), patients with an aortic dissection (a tear in the large artery carrying blood away from the heart), such as the character on tonight's episode of "ER" (NBC-TV) whose dissection is initially misdiagnosed and dies as a result, can be saved if the correct diagnosis is made immediately and appropriate treatment is instituted. For Lee Norton, the 21-year-old who portrays the dying patient on "ER," this message hits close to home because aortic dissection claimed the lives of his brother, his uncle and his aunt.

Both Lee and his mother -- like his other relatives -- are affected by the Marfan syndrome, a genetic disorder of connective tissue, which increases the risk of aortic dissection 100-fold. Other risk factors for aortic dissection are high blood pressure, bucuspid aortic valves and Turner syndrome (a chromosomal disorder that can affect women).

"In my family, it took the death of my 15-year-old brother for us to learn about the Marfan syndrome, but it's not too late for others," said Lee, currently a student at the University of Utah whose diagnosis led to his interest in becoming a cardiothoracic surgeon. "I hope viewers realize that someone with the Marfan syndrome can appear very 'normal' until disaster strikes. By recognizing the characteristics of the disorder, people can seek diagnosis and treatment, and doctors can recognize a potential crisis before it happens."

Limited Suspicion of Aortic Dissection Leads to Deaths
Due to limited awareness or lack of suspicion of an aortic dissection among medical professionals, tragic cases continue to be reported to the NMF in which relatively young individuals have chest pains that are misdiagnosed in a hospital by emergency physicians and subsequently die of an aortic dissection. The most high profile case was the death of Tony Award-winning Rent playwright, Jonathan Larson, who was sent home from two different New York City hospitals -- one diagnosed him with the flu, the other food poisoning -- only for him to die alone in his apartment of an aortic dissection before his hit play opened on Broadway.

Larson, like many people who have the Marfan syndrome, exhibited many outward signs of the disorder, which include tall stature (or taller than other members of their family); disproportionately long arms, legs, fingers and toes; protruding or sunken chestbone; armspan greater than height; scolosis; nearsightedness; and flat feet. Every year many people with the Marfan syndrome and previously unrecognized aortic aneurysms require emergency surgery for acute dissection or sustain fatal rupture before surgery can be performed. Not infrequently such patients had skeletal or ocular changes diagnostic of the Marfan syndrome that were not recognized by the patients' physicians(1).

"Ideally, people who are affected by the Marfan syndrome have their aorta monitored yearly to detect aortic enlargement, the precursor to aortic dissection, and take medications to slow the progression of enlargement. The problem is that tens of thousands of people in the U.S. who have the Marfan syndrome are not diagnosed. For them, an aortic dissection can happen at any time, without notice," said Richard Devereux, M.D., Professor of Medicine, Weill Cornell Medical College-New York Presbyterian Hospital. "It is incumbent upon the emergency physicians to consider aortic dissection in people who present in the emergency room with chest pain, especially if they exhibit the typical physical signs of the Marfan syndrome and other diagnostic possibilities cannot be confirmed."

The NMF's Emergency Medicine Campaign
Preventing these avoidable deaths is the objective of the NMF's Emergency Medicine Campaign, which was developed with the support of the family of Jonathan Larson. The goal is to educate emergency room personnel about the risk factors for aortic dissection and how to correctly recognize, diagnose and treat a dissection.

In conjunction with the "ER" episode, the Foundation is launching a new continuing medical education (CME) video program about the emergency diagnosis and treatment of aortic dissection, accredited by Washington University School of Medicine in St. Louis. Accompanying the video are materials developed by the NMF in cooperation with the New York State Department of Health as part of the medical education initiative instituted following the State's investigation into the death of Larson. These include a booklet for physicians, a four-color poster for non-patient areas in the hospital emergency department and an educational advisory for pre-hospital providers (i.e., emergency medical technicians), which was devised by New York's State Emergency Medical Advisory Committee (SEMAC).

Recognizing and Treating Aortic Dissection
Although aortic dissection is uncommon, it is not rare. Based on available medical information, there are approximately 5,000-10,000 dissections per year in the U.S., but experts believe that the number may be underreported because dissections that do not result in death or cardiovascular surgery may be recorded under a different diagnosis, such as chest or abdominal pain. In addition, because so few autopsies are conducted, many deaths are attributed to "heart attack" or "sudden death" when the cause is actually an aortic dissection.

An aortic dissection that doesn't stop tearing will ultimately become a fatal rupture. In fact, there is a fatality rate of more than 90 percent associated with acute aortic dissection originating near the heart without urgent surgical intervention by an experienced physician.

The primary symptom of an aortic dissection is severe pain, usually in the chest, but occasionally in the abdomen when the tear begins in the lower part of the aorta. Other signs are pallor, pulselessness, parathesiae and paralysis. An imaging study of the aorta -- a standard echocardiogram, magnetic resonance imaging (MRI), computed tomographic (CT) scan or transesophogeal echocardiogram -- can confirm or disprove the diagnosis. A standard chest x-ray cannot be considered conclusive in identifying an aortic dissection.

Upon diagnosis of a dissection, medications are prescribed to lower the blood pressure and slow the pulse. In a dissection that starts away from the heart, if the blood pressure stabilizes, the pain stops and there's no compromise of blood flow to the organs, then surgery can be avoided. However, symptomatic ascending aortic dissections or aneurysms do require emergency surgery.

According to a study published in the New England Journal of Medicine, while elective aortic surgery has an operative mortality rate of 1.5 percent, emergency aortic repair has an operative mortality rate of 12 percent(2). Despite the increased risk during emergency surgery, lead investigator Vincent Gott, M.D., Johns Hopkins Hospital, emphasized the need for emergency room physicians to consider Marfan syndrome when diagnosing very tall patients who come to the hospital complaining of chest pains.

The Marfan Syndrome
The Marfan syndrome and related connective tissue disorders affect approximately 200,000 people in the U.S. The Marfan syndrome -- which is named for the French pediatrician, Dr. Antoine Marfan, who first identified the disorder in 1896 -- is inherited from an affected parent in 75 percent of cases. However, one-quarter of cases result from a spontaneous mutation at conception. Although the gene for the disorder has been found, there is no simple genetic test to make the diagnosis. A complete examination, including an echocardiogram of the heart by a cardiologist, measurement of body proportions by a geneticist or orthopedist and a slit lamp eye exam by an ophthalmologist, remains the most effective and reliable method for diagnosis.

Once the Marfan syndrome is confirmed, medication can lessen the strain on the aorta and proper monitoring can ensure that surgery is done early to prevent a fatal aortic rupture. With an early diagnosis, proper treatment and a modified lifestyle, most people with the Marfan syndrome can hope to live a normal life span.

The National Marfan Foundation
The NMF was founded in 1981 to provide accurate and timely information about the disorder to patients, family members and physicians; to serve as a resource for medical information and patient support; and to support and foster research.

回頁首目錄

 

   
Site Map |  Home Page |  Introduction |  New Development  |  News Reports  |  Contact Us

聲明:本網站由馬凡氏綜合症病人建立,旨在分享有關資訊及建立聯繫,網主並非醫護專業人士,
所以難以保證內容無誤,如有問題請直接聯絡你的醫生。

1
1