What unites the people depicted on the mainphotos, except for their significant contribution to the history of mankind? Genetic anomaly - Marfan's disease, which still suffered from Julius Caesar, Niccolo Paganini and Sergei Rachmaninoff. This genetic error can be both rock and luck for its owner. What kind of disease this is - Marfan syndrome, what are the laws of its inheritance, the frequency of occurrence and the consequences for the individual - this is discussed in this material.
Some general knowledge
With the development of science, genetics was not for scientistsmore interesting object to study the laws of inheritance of characters than a person. The vast array of data accumulated in the entire history of medicine and the pathology of diseases has contributed to the development of knowledge about the inheritance of traits in humans. Descriptive and genealogical methods in genetics made it possible to establish in people depicted in the main photo, Marfan's disease is a genetic pathology that is associated with impaired formation and development of connective tissues. This is a pathology that is characterized by wide polymorphism in symptoms and clinical manifestation. For the first time the disease was described by a pediatrician from France, Bernard-Jean-Marfan (1858-1942). In 1896, he observed a 5-year-old girl with severe pathologies, but the gene responsible for the onset of symptoms of Marfan's disease was discovered by the American geneticist Francesco Ramirez in 1991.
Pathology genetics
The cause of Marfan syndrome disease isanomaly of the gene (FBN1) located on the fifteenth chromosome. This gene is normally responsible for the synthesis of fibrillin - a protein of connective tissue, it is in each of us. But due to the presence of two alleles of any gene in homologous (one pair) chromosomes, not all people suffer from this disease. It occurs in one person out of 5 thousand and the type of inheritance of Marfan's disease is autosomal dominant. This means that if one of the parents has the syndrome (two alleles of the gene are dominant), and the second is healthy, then with a probability of 50% the child inherits the disease. The genetic mechanism and type of inheritance of Marfan's disease is confirmed by clinical observations and laboratory diagnostics. This protein, besides supporting function in the human body, plays a role in the formation of growth factors. Abnormal fibrillin contributes to the formation of transformed growth factor TGF-β, which leads to a negative effect on the tone of smooth muscle. Elastin fibrillin fibers are in the whole human body, but they are most concentrated in the aorta, in the bundle, with which the lens joins the ciliary body and other bundles. The genetic mechanism of Marfan's disease leads to the accumulation of TGF-β in the connective tissue of the heart valves, lungs and blood vessels, which weakens them.
Clinic and syndromes
Marfan syndrome is a disease of the connective tissue, andall manifestations are associated with changes in bones, joints, skin. The disease has no unique and unambiguous symptoms. But in the presence of such signs as elongated limbs and fingers (spider hand), lens dislocation anomalies and aortic aneurysm, it is quite possible to assume that there is an abnormal Marfan disease gene in the patient's genotype. All disease syndromes are divided into:
- lesions of the skeletal system;
- damage to the circulatory system;
- eye damage;
- effects on the respiratory system;
- effect on the nervous system.
Болезнь Марфана может проявляться в умеренной или severe forms, it all depends on the degree of influence on the organ system. With a slight manifestation of the disease, everything can be limited to its carrier with long arms and legs with thin fingers. What is terrible disease Marfan? This is a complication - a violation of the structure of blood vessels and especially the aorta, damage to the valves of the heart, the hard shell of the spinal cord and many other symptoms.
Bone and vision damage
People with Marfan disease are more likely to differdisproportionality of appearance (ratio of arms to growth height - 1.05). They are tall, with disproportionately elongated limbs and a brush with long fingers (arachnodactyly). Patients develop spinal column pathologies - scoliosis, the thorax is deformed inward (funnel-shaped) or outward (keeled). Often found flatfoot, irregular bite. Characterized by excessive flexibility of the joints, which is often accompanied by pain.
Patients often have visual impairment(astigmatism, myopia, rarely hyperopia). Ectopia of the lens (location abnormalities) are recorded in 80% of patients. Often, pathologies of vision appear after the weakening of connective tissues in adults, but for patients with Marfan's disease, glaucoma is often recorded in children and adolescents.
The most serious consequences of the disease
Disorders in the circulatory system and activityhearts are the most serious complications. Violation of the rhythm of heart contractions, shortness of breath and fatigue, cold limbs - these are the external manifestations that should alert the patient. The presence of noise in the heart. Pathological manifestations in an electrocardiogram, angina pectoris are the grounds for further examination. Disorders in the connective tissues of the heart are manifested in valve prolapse (mitral and aortic), an enlarged aorta or its aneurysm in Marfan's disease (photo below).
Особую опасность представляет заболевание для women during pregnancy. Even in the absence of visible complications during pregnancy, patients with such a diagnosis increase the risk of aortic dissection, which can be fatal. Women with such a diagnosis are recommended when planning pregnancy to undergo a thorough examination of the cardiovascular system, and in the period of carrying a child every six weeks to undergo an echocardiographic study. Natural childbirth in such patients is quite possible.
Lungs and central nervous system
The consequence of the disease may be the developmentsudden pneumothorax. When, with the weakening of the connective tissue, air enters the cavity between the lungs and the chest. If you do not pay attention to such signs as cyanosis of the face, shallow breathing, shortness of breath and chest pain, the development of pneumothorax can lead to the death of the patient. Associated with Marfan syndrome sleep apnea and obstructive pulmonary disease with an unidentified cause (idiopathic).
On the quality of life of a patient with this diseasedural ectasia can affect - sagging of the dura mater of the spinal cord. And although it is not fatal, persistent pain in the lumbar region, lower extremity neuralgia and headaches make life very difficult for the patient. In addition, the development of degenerative damage to the intervertebral discs can provoke various dysfunctions of the nervous system.
Diagnosis of the disease
Leading diagnostic criteria are considereddisturbances in the work of the cardiovascular system, especially aneurysm and aortic expansion. But the final diagnosis is made by a comprehensive examination (there are more than 30 clinical signs of the disease) with the participation of geneticists, cardiologists, ophthalmologists, orthopedists. If, when studying family history, it is established that the disease is hereditary, then the diagnosis is confirmed in the presence of violations of at least two of the body systems. If the hereditary nature of the disease is not established, then the diagnosis is confirmed if there is a lesion in the three systems. A diagnosis can take several years, because in childhood, the symptoms may not appear or appear slightly.
Treatment of pathology
Today there are no drugs that would treat thisdisease. But the achievements of modern diagnostics and medicine can significantly improve the quality of life of patients and increase life expectancy. Early diagnosis allows for prophylactic therapy for minor injuries of organ systems, and the achievements of cardiac surgery can replace damaged heart and aortic valves.
Нарушения в скелетной системе и зрении хоть и не deadly, but pretty serious. They can be corrected in the usual way with the use of muscle relaxants and physiotherapy. To correct the chest, minimally invasive procedures developed by the American physician Donald Nus in 1987 are widely used. This technique provides for surgical intervention to correct the chest in children and leads to a significant improvement in the results of pulmonary functions.
How to warn
Preventive measures are mainlyto regular examinations by specialists. In case of detection of pathologies of the cardiovascular system, the progression of aneurysms is prevented, the use of drugs that eliminate arrhythmia, normalize blood pressure.
For people with this disease and their families around the world there are specialized medical centers where genetic counseling is provided.
Marfan's disease is not a sentence
This pathology does not have genital, ethnic orsocial preferences. Most patients have relatives with this disease, but up to 15% of all cases are associated with new gene mutations. Among those who have Marfan syndrome, there are quite a few successful people, both the present and the past. In addition to the features of the skeleton, this disease rewards its owners with a high level of adrenaline in the blood, increased working capacity and quick reactions, cool temper and love of life. This is a disease that is one of the five most common among celebrities. Here are just a few examples of successful people with this syndrome.
Expressive and famous
About long fingers and incredible expressivenessin the performance of musical works by Nicolo Paganini (1782-1840) legends went on until the beginning of the 20th century. The last years of his life, the violinist was in a very nervous state, all joints hurt, and the doctors did not help. He died at the age of 57, and his violin, the “widow of Paganini,” bequeathed to the city of Genoa so that no one else could play it.
Abraham Lincoln (1809-1865), except that he wasthe highest president of the United States (height 195 centimeters), became the country's national hero and the liberator of slaves. Marfan's syndrome hurt 11 generations of Lincoln and most of them lived safely to gray hair.
Hans Christian Andersen (1805-1875) was differentoriginal appearance and very explosive character. He was called a brilliant paranoid, he was afraid of dogs, thefts, to be buried alive, to treat teeth. He died at the age of 67, not recovering from injuries sustained when falling from bed.
Sergey Rachmaninov (1873-1943) was the lastrepresentative of romanticism in Russia. The great conductor, composer, pianist did not live three days before his 70th birthday. Own unique style in music brought him worldwide fame during his lifetime.
Athletes with pathology
Фло Хайман (1954-1984) очень стеснялась своего growth (196 centimeters) in his youth. But this did not stop her from becoming the silver medalist of the Olympic volleyball among women. Died during the game due to aortic dissection.
Isaiah Austin (1993) - basketball player from the USA,central NBA with an increase of 217 centimeters (pictured). With all the success of the athlete, he saw with only one eye. His career ended in 2014, when he was diagnosed with Marfan syndrome.
Michael Phelps (1985) introduced America toOlympic Games at 15 years old. This swimmer with Marfan syndrome is the only one in the history of all sports to become the Olympic champion 23 times, 26 times the world champion in a 50-meter pool. His height is 193 centimeters, he takes 14th place in the ranking of GQ magazine "50 people and phenomena that made the XXI century the way it is."
