Introduction: Marfan syndrome is a lifelong problem that occurs in 1 in 3000 to 5000 births. 50% chance that this syndrome will be inherited from parents; However, 25% of patients show variants of the disease that do not receive this mutation. In consecutive years, due to early diagnosis and medical research, the quality of life of these patients has increased.
Methods: In this article, Google Scholar data and its advanced search were used to find new articles between 2019 and 2023, and what is Marfan syndrome, diagnosis of Marfan syndrome, treatment of Marfan syndrome, effect of Marfan syndrome were searched.
Results: Marfan syndrome is an autosomal disorder in the connective tissue that is caused by a mutation in the FBN1 gene of chromosome 15. The FBN1 gene encodes a large glycoprotein called fibrin 1. These microscopic fibers have the role of structural support for tissues and organs. As we know, connective tissue is present throughout the body. This syndrome has the same frequency in men and women.
signs
The most significant problem in patients with Marfan syndrome is the defect of the aorta and heart valves, which may be life-threatening. Cataract, glaucoma, reduced vision and even blindness are the effects of this syndrome, so many patients wear glasses. Obesity is observed in elderly patients.
This disease includes skeletal abnormalities such as lateral curvature of the spine, stretching of the face and upper body, thin and narrow body, deformity in the chest and arms and legs, hunchback and excessive bending of the joints.
Other symptoms of this disease are irregular teeth, skin and lung problems, and disorders in the central nervous system.
Also, psychologically, these patients have challenges in education, depression and anxiety, fatigue and sleep disorders. Part of this anxiety and depression is caused by dissatisfaction with the shape of the body, and this dissatisfaction is seen more in women than in men.
Diagnosis:
Despite the fatal problems caused by Marrfan syndrome, its timely diagnosis is very important. It is difficult to diagnose the disease due to the phenotypic diversity and the age-dependent nature of some of its symptoms, the high rate of spontaneous mutations, and the similarity of the symptoms of other connective tissue diseases.
First, we examine the patient in terms of personal symptoms and family history and complete physical examination and check them for the presence of symptoms.
We identify these patients by performing echocardiography and measuring the diameter of the aorta from the heart point of view; also, the first degree relatives of the patient must undergo a physical examination. If there is a gene mutation, they should undergo genetic counseling and genetic tests, and only those who have a gene mutation should have their aorta examined.
treatment:
Drug treatments, for example, the use of Beta_Blocker drugs, which reduce cardiac symptoms; also, anticoagulant drugs such as warfarin, intravenous antibiotic therapy are used during cardiac surgery.
Some patients with acute cardiac symptoms undergo emergency aortic surgery, which causes 20% death and 50-70% of them have a 10-year survival; if the non-emergency and elective surgery, the probability of death is 1-2%.
In some cases, severe nystagmus requires surgery, and laser therapy is useful for retinal detachment.
In general, this disease has no specific treatment; The prognosis of the disease, timely diagnosis and drug treatment should be increased to delay the progression of the disease.
Conclusion: Marfan syndrome is a disease that does not have specific symptoms, diagnosis and treatment, and the goal of treatment is to keep the disease process stable before it reaches acute stages and causes dangerous complications. It is better to increase the life expectancy of patients and to prevent abnormalities following the disease, to make a timely diagnosis based on clinical symptoms, to carry out specific genetic tests for patients and their first-degree dependents in order to prevent disability in the target society and mortality. caused by it to be prevented.