马凡氏 并发症状
Overview
马凡氏 syndrome is a rare, inherited disorder of connective tissue and growth. 这种疾病会影响身体的几个部位.
这种疾病变化很大, which means that different people with the condition will have different parts of their body affected to a greater or lesser degree.
The features of 马凡氏 syndrome result from changes in the body's connective tissue and in the control of body growth. 结缔组织将我们的身体连接在一起. It is found throughout the body, which is why it can affect many different parts of the body.
马凡氏 syndrome most commonly affects the heart and blood vessels, the bones and joints and the eyes. 它还会影响肺部和皮肤. The number and type of features that are present can vary a lot between different people with 马凡氏 syndrome. Some will have only a few features, while others will have many.
我们治疗马凡氏综合征的方法
UCSF provides comprehensive, specialized care for patients with 马凡氏 syndrome. 这种遗传性疾病没有单一的检测方法, 症状因病人而异, 通常影响身体多个部位的. 这就是为什么我们的团队包括遗传学专家, 心脏病学, 整形外科, 眼科等专科. They work together to evaluate each patient and tailor the treatment plan to address individual needs.
The most serious feature of 马凡氏 syndrome is that the heart's aorta (main artery) may widen, 导致破裂的可能性. The medical team may manage this with medications, regular echocardiograms or preventive surgery.
病人 have access to world-class care at our cardiovascular genetics program – the first such program in Northern California and one of a select few across the country. Specialists in inherited heart conditions offer evaluations, 基因检测和咨询, customized treatment plans and help in addressing the complex psychological and familial issues that can accompany a genetic disorder.
奖 & 识别
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是全国顶尖的十大赌博平台排行榜之一
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全国最好的心脏病和心脏专家之一 & 血管手术
迹象 & 症状
The most common and serious feature of 马凡氏 syndrome is dilation or widening of the aorta, which is the main blood vessel that carries blood out of the heart to the rest of the body. The dilation can progress until the wall of the aorta tears, a condition called aortic dissection. This is the most serious or life-threatening feature of 马凡氏 syndrome. 然而, aortic dissection can be avoided by taking appropriate medicine and with preventive surgery to replace a dilated aorta, 在它流泪之前.
Since 马凡氏 syndrome is partly caused by changes in growth regulation, people with the disorder can often have some of the following traits:
- They are taller than people in their family who do not have 马凡氏 syndrome
- 他们可能有又长又细的手指和长长的胳膊和腿
- They may have a dislocation of the lens in the eye that also causes nearsightedness or myopia that can progress quickly
- They may have a detached retina, early glaucoma or early cataracts
诊断
There is not one simple test to make a diagnosis for 马凡氏 syndrome. 检查某人是否患有马凡氏综合症, the patient needs to be checked for features of the condition. This may mean seeing a number of doctors and undergoing various special tests. The 马凡氏 Clinic staff will determine which special evaluations or doctors a patient needs to see and will coordinate these evaluations. The genetics evaluation in the 马凡氏 Clinic brings together the information from all these different doctors and tests to determine if the person has 马凡氏 syndrome.
To be diagnosed with 马凡氏 syndrome a person must either have several of the features or have just a few of the features but also have a family member with documented 马凡氏 syndrome. 基因检测也可以帮助诊断. This is a blood test that looks for a mutation in the FBN1 gene, 马凡氏综合症的病因是什么.
If the FBN1 mutation causing 马凡氏 syndrome in a family is known, then other members of the family can be tested for that mutation. 这将决定他们是否遗传了马凡氏综合征.
治疗
Care of people with 马凡氏 syndrome has significantly improved over the years. Most people will live a normal life span and have a good quality of life, though they will need more medical attention and treatment than the average person. Because 马凡氏 syndrome affects several different parts of the body, people with 马凡氏 syndrome need to see doctors who specialize in genetics, 心脏病学, 整形外科, 眼科和其他专科视需要.
马凡氏综合征的大部分特征是可以治疗的. 如上所述, 主动脉扩张可以通过药物治疗来控制, 用超声心动图定期检查主动脉, 以及防止主动脉夹层的手术. The eye features can be treated with glasses or, if needed, with surgery.
加州大学旧金山分校健康 medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.
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