Introduction
Marfan syndrome is an inherited connective tissue disease characterized by pathological changes in the heart, blood vessels, musculoskeletal system, and eyes (von Kodolitsch et al., 2019). Often, the external symptoms of Marfan’s syndrome appear in the first days after the birth of a child and only intensify in the future (von Kodolitsch et al., 2019). Among the external signs by which pathology can be suspected, it should be noted, first of all: increased length of the limbs and fingers; underweight with the increased physical development of the child; an elongated skull and an elongated face; weak, poorly developed muscle tissue, lack of fatty tissue; abnormally high joint flexibility; awkwardness and clumsiness of movements (Pyeritz, 2019). Marfan syndrome is detected in 1 in 3000-5000 people; however, several other inherited connective tissue diseases have similar clinical manifestations and dangerous complications, making the problems associated with Marfan syndrome very relevant (Pyeritz, 2019).
Symptoms
Marfan syndrome in children older than four years leads to a change in the shape of the chest, the curvature of the spine, and the development of flat feet (Pyeritz, 2019). Among the ophthalmic symptoms, the most common are myopia, ectopia of the eye lens, changes in the shape of the cornea, strabismus, and hypoplasia of the iris and retina (von Kodolitsch et al., 2019). Changes often appear in the first years of life and are bilateral, steadily progressing over time (Zeigler et al., 2021). The most dangerous are pathological changes in the cardiovascular system, which, in the absence of medical care, lead the patient to death at an early age (Pyeritz, 2019). This includes changes in the vascular walls and various structural defects of the heart and coronary vessels (von Kodolitsch et al., 2019). With the most unfavorable form of the disease, a child develops progressive heart failure in the first year of life (Zeigler et al., 2021).
Inheritance and Principles
Marfan’s syndrome is a rare genetic pathology characterized by changes in connective tissues. The cause of the development of the syndrome is mutations of the fibrillin gene, one of the essential components of the connective tissue (Zeigler et al., 2021). As a result of such modifications, the amount of a particular protein significantly increases, leading to changes in the connective tissue characteristic of Marfan’s syndrome (von Kodolitsch et al., 2019). Marfan syndrome can be inherited from one of the parents or, in about a quarter of cases, result from a spontaneous mutation. Spontaneous mutations are said to be in patients whose family members have previously suffered from this disease. The probability of inheriting Marfan’s syndrome from an affected parent is 50:50 (Zeigler et al., 2021). The frequency of manifestation of the disease is not influenced by gender or racial characteristics.
Diagnosis of Marfan’s Syndrome
Diagnosis of a genetic anomaly includes a set of measures to determine all the symptoms of the disease, as well as to study the likelihood of developing a mutation: Collection of complaints – a detailed study of all pathological signs; Determination of the anamnesis – clarification of the state of health of the parents; Careful examination, measurement of height, arm span and other anthropometric indicators; Screening test for children aged 7-18 years – measurement of the length of the middle finger; In patients with Marfan syndrome, the hand exceeds 10 cm (von Kodolitsch et al., 2019). To diagnose Marfan syndrome, one should contact a pediatrician or general practitioner. The doctor will analyze the symptoms and, if necessary, refer the patient to a cardiologist, orthopedist, and ophthalmologist so that the patient undergoes a detailed examination.
Laboratory Examination and Diagnosis Establishment
The most accurate laboratory sign of SM is the genetic identification of mutations in the FBN1 gene. Of particular importance are the indicators of renal excretion of connective tissue metabolites: hydroxyproline, oxylysylglycosamines, glycosaminoglycans, and their fractional composition (Pyeritz, 2019). For the final diagnosis, the generally accepted Ghent criteria of 2010 are used, according to which the diagnosis is established in the following cases: confirmed FBN1 gene mutation and aortic root dilatation or lens ectopia; approved expansion of the aortic root in combination with ectopia of the lens; confirmed ectopia of the lens in combination with any signs of systemic damage to the connective tissue (von Kodolitsch et al., 2019).
Treatment of Marfan’s Syndrome
Early treatment of patients with Marfan’s syndrome can significantly increase the duration and improve their quality of life. Thus, without treatment, the average life expectancy is approximately 32 (Zeigler et al., 2021). With complete treatment, this figure increases to 60 years or more (Zeigler et al., 2021). Treatment depends on the clinical manifestations of the disease: for aortic aneurysm, drugs are prescribed that reduce the frequency and strength of heart contractions, removing excessive stress on the vessels; patients with Marfan syndrome are often prescribed antihypertensive drugs to lower blood pressure; chondroitin and glucosamine are natural components of connective tissue – their intake improves the structure of cartilage and prevents joint pathologies; drugs to stimulate the formation of collagen (Pyeritz, 2019). In particularly severe cases of aortic aneurysm, the patient needs to undergo aortic replacement surgery (Zeigler et al., 2021).
Application of Research
Summing up everything written above, I conclude that Marfan syndrome is a rare and severe disease. I learned a lot about this disease, although I was familiar with it in principle. One interesting finding is that the syndrome immediately manifests itself at an early age, although many other genetic mutations can manifest themselves much later (Zeigler et al., 2021). It is also amazing how many symptoms this disease can have and how varied they are. This fact complicates the diagnosis of this disease since its symptoms are very similar to other genetic disorders. Also, due to medical care, the life expectancy of people with Marfan syndrome has increased and has become almost the same as in healthy people.
Conclusion
Summing up the results of the whole study, this project can be used to familiarize people with this disease. In addition to using it for educational purposes, this project has practical applications. Because this work provides insight into the features and symptoms of Marfan’s syndrome, it could help identify the disease in an unsuspecting individual, thereby saving their life. In addition to describing the Marfan syndrome, this study also carries a simple truth – forewarned is forearmed. Being aware of something is always very helpful, especially regarding human health. The fact that many people on earth do not know about their diseases due to ignorance is frightening.
References
Pyeritz, R. E. (2019). Marfan syndrome: Improved clinical history results in expanded natural history. Genetics in Medicine, 21(8), 1683–1690. Web.
Zeigler, S. M., Sloan, B., & Jones, J. A. (2021). Pathophysiology and pathogenesis of Marfan syndrome. Advances in Experimental Medicine and Biology, 185–206. Web.
von Kodolitsch, Y., Demolder, A., Girdauskas, E., Kaemmerer, H., Kornhuber, K., Muino Mosquera, L., Morris, S., Neptune, E., Pyeritz, R., Rand-Hendriksen, S., Rahman, A., Riise, N., Robert, L., Staufenbiel, I., Szöcs, K., Vanem, T. T., Linke, S. J., Vogler, M., Yetman, A., & De Backer, J. (2019). Features of Marfan syndrome not listed in the ghent nosology – the dark side of the disease. Expert Review of Cardiovascular Therapy, 17(12), 883–915. Web.