Disease when a person ages quickly

The process of premature modification of cells due to exposure to pathological, genetic or external factors is called premature aging disease. The pathology is poorly understood, and the exact causes of the development of this condition have not been identified. There are a number of external and internal factors that provoke the disease. According to statistics, rapid aging syndrome is extremely rare (there is 1 sick person per 4 million people).

What Causes Early Aging

Premature aging syndrome is a condition when age-related physiological changes occur in a person much earlier than expected. Aging is a natural process, characterized by a gradual decrease in entropy (life processes) of all body systems. In addition, changes occur in various cell qualities: the protein synthesis mechanism is disrupted and errors gradually accumulate when copying DNA.

Among the first signs of premature aging are changes in the skin (deep wrinkles appear, the skin becomes thinner, and begins to sag) due to disruption of the synthesis of elastane and collagen. Changes in the functioning of the brain are noted: due to the fact that functional cells (neurons) are destroyed, a person’s cognitive abilities (for example, memory) significantly deteriorate. In addition, Werner syndrome is characterized by the following disorders of the body systems:

1. Cardiovascular: destruction of blood vessels occurs, the volume of cardiac output decreases, the heart muscle thickens, loses elasticity and ability to regenerate, and atherosclerosis develops.
2. Immune: antibody production decreases.
3. Musculoskeletal system: rapid muscle atrophy, development of osteoporosis, arthritis.
4. Sense organs: presbyopia develops (age-related decrease in visual acuity), hearing loss, cataracts, and complete hearing loss.
5. Reproductive system: women experience early menopause, men suffer from erectile dysfunction, and the likelihood of developing malignant tumors increases.

Causes

Many factors of a pathological or physiological nature can accelerate the aging process. Among the reasons not related to diseases are the following:

1. genetic predisposition;
2. environmental factors;
3. Lifestyle;
4. climate.

Premature aging can be triggered by the early manifestation of systemic diseases. In this case, the syndrome usually manifests itself in early childhood, adolescence or young adulthood. Among the pathological causes leading to early aging are:

1. Alzheimer's disease;
2. diabetes;
3. osteoporosis, osteoarthritis;
4. Parkinson's disease;
5. cardiovascular pathologies;
6. hypothyroidism;
7. Down syndrome;
8. trichothiodystrophy;
9. dermopathy.

What is premature aging disease

The pathological process, which is provoked by premature aging and is characterized by changes in the condition of the skin, disruption of the functioning of organs and systems, is called progeria. Mental development is assessed as satisfactory. There are two types of the disease: childhood (Hutchinson-Gilford syndrome) and adult (Werner syndrome). Presumably, the pathology in adults has an autosomal recessive type of inheritance, and in children it occurs spontaneously.

Causes

It is known that rapid aging disease is a pathology of genetic origin and occurs due to mutation of the LMNA gene, which encodes the synthesis of lamins - proteins that are part of the cell nucleus shell. Genetic disorders provoke instability of cellular structures, which leads to the rapid launch of aging mechanisms. A large number of proteins are deposited (accumulated) in cells, which lose the ability to divide, renew themselves and die prematurely.

In addition, the mutation provokes the production of a truncated, unstable progerin protein, which quickly degrades. It does not penetrate into the core shell plate located under the membrane, as a result of which it collapses. This process is key in the pathogenesis of progeria. The disease occurs in children of the same parents (siblings) or in the offspring of consanguineous marriages. When studying the cells of people suffering from this disease, gross violations of DNA repair in cells and the synthesis of fibroblasts were discovered. The childhood form of progeria is considered congenital.

Symptoms

The clinical picture of premature aging disease manifests itself over time. With Hutchinson-Gilford syndrome, the first symptoms of the pathology appear at 2-3 years of life, and with Werner syndrome, as a rule, within six months after puberty. The disease affects the entire body at once, disrupting the functioning of almost all vital organs.

In childhood

Progeria occurring in childhood is characterized by a sharp slowdown in the child’s growth, atrophy of the dermis, subcutaneous tissue, and loss of skin elasticity. The epidermis becomes thinner, becomes dry and wrinkled, scleroderma-like lesions and hyperpigmentation are noted on the body. Large and small veins are visible through the pale and thinned skin. In addition, the following signs of Hutchinson-Gilford syndrome are noted:

1. skeletal muscle atrophy;
2. fragility of teeth;
3. brittleness of hair and nails;
4. pathological changes in the musculoskeletal system, myocardium;
5. underdevelopment of the genital organs;
6. disorders of fat metabolism;
7. cataract;
8. atherosclerosis.

Due to the fact that the disease affects all cells of the body and changes their qualitative structure, all human tissues and organs change greatly. People who suffer from progeria have some specific appearance features:

1. a large head with prominent large frontal tubercles that protrude above the small “bird-like” face;
2. the lower jaw is greatly underdeveloped;
3. beak-shaped nose;
4. there are no secondary sexual characteristics;
5. height about 90-130 cm;
6. limbs thin, short.

In adults

The first clinical symptoms of the disease in adults appear by the age of 14-18 years. Before puberty, no signs of premature aging disease are observed. Patients begin to lag behind in physical development, turn gray and go bald. The skin quickly becomes thinner, becomes pale and has pigment spots. The limbs look very thin due to atrophic changes in the subcutaneous tissue and muscles. By the age of 30, patients develop the following signs of the disease:

1. cataract;
2. trophic ulcers;
3. dysfunction of the sweat and sebaceous glands;
4. arthritis;
5. exophthalmos;
6. moon-shaped face;
7. sexual dysfunction.

Treatment

There is no specific therapy for the syndrome and disease of premature aging. Treatment is aimed at maintaining the patient’s condition and maintaining metabolic processes. Complex therapy for progeria includes:

1. Constantly taking small doses of Aspirin, which prevent strokes and heart attacks.
2. Prescription of other groups of medications (statins, hormonal drugs, etc.) that regulate cholesterol levels, blood sugar and support metabolism, oxygen in tissues.
3. Physiotherapeutic procedures that maintain and restore physical activity.

Forecast

Both adult and childhood progeria are fatal in 100% of cases. As a rule, death occurs as a result of stroke, heart attack or multiple organ failure. The life expectancy of people with progeria is approximately 11-13 years (in children) and 35-40 years (in adults). Patients suffering from premature aging disease constantly need medical supervision.

Progeria is a premature aging syndrome manifested by characteristic changes in the skin and internal organs. This is a rare genetic abnormality detected 1 person in 4 million. There are no more than eighty observed cases of this disease in the world. The etiopathogenetic factors of progeria have not been fully studied.

There are two morphological forms of pathology:

1. Childhood progeria - Hutchinson-Gilford syndrome,
2. Adult progeria - Werner's syndrome.

The term “progeria” translated from ancient Greek means “early aging”. The unnatural depletion of all life support systems is due to a genetic failure. At the same time, the aging process accelerates tenfold.

For Hutchinson-Gilford syndrome Children with delayed physical development show signs of aging: baldness, wrinkles, a specific appearance. Their body changes greatly: the structure of the skin is disrupted, secondary sexual characteristics are absent, and internal organs lag behind in development. Then age-related ailments quickly develop: hearing loss, arthrosis-arthritis, atherosclerosis, stroke or heart attack, bone demineralization. An eight-year-old child with this disease looks and feels 80 years old. In mental development, sick children remain absolutely adequate. Their intellectual development does not suffer. They rarely live past 13 years of age. Boys suffer from progeria somewhat more often than girls.

example of the development of a child with childhood progeria (Hutchinson-Gilford syndrome) from 1 year to 12 years

Werner syndrome usually begins to manifest clinically in young people aged 16-20 years. Progeria in adults is accelerated aging with damage to all systems and a high risk of developing cancer of various localizations. The genomic instability that drives the normal aging process leads to a variety of pathological changes. Such patients die by the age of 30-40, having all the symptoms of extreme old age.

a patient with adult progeria (Werner syndrome) – before the onset of the disease at 15 years of age and with a developed form at 48 years of age

Progeria is an incurable disease that “takes away” childhood from sick children and “turns” them into real old people. Regular and adequate medical care can slow down the irreversible aging process and reduce the severity of clinical symptoms. For this purpose, medications, nutritional supplements, surgical and physiotherapeutic techniques are used.

Etiology

The main cause of progeria is a single genetic mutation, the mechanism of which is currently unknown. Some scientists believe that the true cause of the mutation lies in the heredity of the parents, others - in the impact of radiation on the embryo during X-rays of a pregnant woman.

In Werner syndrome, the process of reproduction of DNA molecules is disrupted, and in Hutchinson-Gilford syndrome, the biosynthesis of the protein that determines the shape of cell nuclei is disrupted. Genetic disorders make cells unstable, which leads to the launch of unexpected mechanisms of aging. A large amount of protein accumulates in cells that stop dividing. In this case, the shell of the nucleus becomes unstable, and the cells of the body become unusable and die prematurely. The mutation results in the production of a truncated progerin protein, which is unstable and rapidly degrades within the cell. Unlike the whole protein, it does not integrate into the nuclear lamina, which is located under the nuclear membrane and is involved in chromatin organization. The nuclear substrate is destroyed, resulting in serious problems. Progerin accumulates in the smooth muscle cells of the vascular wall. Degeneration of these cells is one of the leading manifestations of the disease.

Progeria in adults is inherited in an autosomal recessive manner. In children, the mutation is not inherited, but occurs directly in the patient’s body. This is not surprising, since carriers die before reproductive age.

Non-genetic factors influencing the development of the disease:

1. Lifestyle,
2. accompanying illnesses,
3. climate,
4. nutrition,
5. state of the environment,
6. excess sun exposure,
7. smoking,
8. hypovitaminosis,
9. psycho-emotional factors.

Symptoms

In children (Hutchinson-Gilford syndrome)

At birth, a sick child appears to be a normal baby. Clinical signs of progeria appear already in the first year of life. Some children develop correctly up to 2-3 years of age, and then begin to lag behind their peers in terms of height and weight. Children with progeria have a specific appearance, since the signs of the disease are characteristic and unique. All patients are strikingly similar to each other.

typical children with Hutchinson-Gilford syndrome from different families)

A 4-year-old boy with a less typical form of Hutchinson-Gilford syndrome

1. Sick children have a disproportionate skull with a large brain part and a small facial part. Their nose resembles the beak of a bird: it is thin and pointed. The lower jaw is poorly developed, the chin is small, the lips are thin, the ears are protruding, and the eyes are unnaturally large. The teeth grow in two rows, they are deflated and begin to fall out early. It is this set of specific features that makes sick children look like old people.
2. Skeletal abnormalities are the main symptom of the pathology. Sick children are characterized by short stature, underdeveloped collarbones and hips. The bones of patients are very fragile, they often break, and joint mobility is limited. Hip dislocations are common. The manifestation of the disease is dwarfism. Skeletal and nail defects are observed. The nails are yellow and convex, resembling “watch glasses.” Sick children begin to sit and walk late, their posture changes. Some are unable to walk without assistance.
3. The skin and subcutaneous fat become thin. Early aging in patients manifests itself in different ways: the skin becomes covered with wrinkles, its turgor decreases, the eyelids swell, and the corners of the mouth droop. Dry and wrinkled skin is especially noticeable on the face and limbs. The hair on the head falls out, becomes sparse and vellus, and there are no eyelashes or eyebrows. A venous network is visible through the thinned skin on the head. Due to the lack of subcutaneous fat, the child looks like a skeleton covered with skin. Dry and wrinkled skin atrophies in places, large areas of hyperpigmentation, thickening and keratinization appear on it.
4. Other symptoms: infantilism, shrill voice, muscle wasting, short arms, narrow and protruding chest.

In adults (Werner syndrome)

The first clinical signs of Werner syndrome appear by the age of 14-18 years. Until puberty, patients develop normally. Then they begin to lag behind their peers in physical development, go bald, and turn gray. Their skin becomes thinner, wrinkles and becomes unhealthy pale. The arms and legs look very thin due to atrophy of subcutaneous fat and muscles.

37-year-old man with Werner syndrome

After 30 years, the following pathological processes develop in the body of patients:

1. cataracts in both eyes,
2. hoarseness of voice,
3. calluses on the feet,
4. ulcerative-necrotic processes in the skin,
5. dysfunction of the sweat and sebaceous glands,
6. heart dysfunction,
7. osteoporosis, metastatic soft tissue calcification, osteomyelitis,
8. erosive osteoarthritis,
9. “scleroderma mask” on the face,
10. short stature, dense and short body, thin and dry limbs,
11. decreased intelligence,
12. nail deformation,
13. the appearance of large pigment spots on the skin,
14. hump on the back
15. exophthalmos due to thyroid dysfunction,
16. moon-shaped face due to pituitary dysfunction,
17. testicular atrophy in men, menstrual irregularities in women, early menopause.

The skin epidermis is flattened, connective tissue fibers are sclerosed, subcutaneous tissue atrophies and is partially replaced by connective tissue. Limitation of passive movements in the joints of the arms and legs is manifested by the inability to fully flex and extend the limb. This is due to cicatricial tightening of the tendons and pain.

By the age of 40, patients develop senile ailments: heart problems, diabetes mellitus, frequent fractures of arms and legs, joint pain, benign and malignant skin tumors, dysfunction of the parathyroid glands. Cancer, heart attack and stroke, internal hemorrhages are the main causes of death in progeria.

Symptoms of pathology only resemble the process of normal aging. Signs of aging in progeria vary in severity or appear in a different order. With natural aging, nail growth slows down, and with progeria, it stops completely. In older people, eyebrows become thinner after hair loss on the head, and in patients with progeria, the opposite is true.

Diagnostics

Hutchinson-Gilford syndrome

Diagnosis of progeria does not require specific techniques and studies. The external signs of the disease are so eloquent that the diagnosis is made based only on symptoms and visual examination data. Specialists study personal and family history.

Additional studies are indicated to identify concomitant diseases. Patients are prescribed a general blood test, biochemical examination, x-ray of the osteoarticular apparatus, histological examination of the skin, and medical genetic counseling.

Treatment

Currently, there is no panacea for progeria. All treatments that have ever been used have proven ineffective. Doctors are using modern methods to try to stop the disease and prevent it from getting worse. Patients are jointly treated by specialists in the field of endocrinology, therapy, and cardiology.

To alleviate the condition of patients, doctors prescribe:

1. "Aspirin" for the prevention of acute cardiac and vascular failure - heart attack and stroke.
2. Statins for lowering blood cholesterol levels and preventing atherosclerosis - “Lipostat”, “Choletar”, “Liptonorm”.
3. Anticoagulants to prevent or slow down the process of thrombosis - “Warfarex”, “Sincumarin”.
4. Preparations containing growth hormone - “Getropin”, “Neotropin”, “Dinatrope”. They allow you to correct delays in physical development.
5. Preparations that heal wounds and stimulate blood circulation during the formation of ulcers - “Mefanat”, “Bepanten”.
6. Hypoglycemic drugs for diabetes mellitus - “Diabeton”, “Maninil”, “Gliformin”.

Physiotherapeutic procedures are carried out to influence stiff and stiff joints. Patients are prescribed electrophoresis, reflexology, exercise therapy, infrared rays, water procedures, mud therapy, UHF therapy, and magnetic therapy. Patients with progeria are advised to eat proper nutrition, enriched with vitamins and microelements, moderate physical activity, long walks in the fresh air, and proper rest.

Infants are fed through a tube with special milk formulas containing additives for weight gain. Milk teeth are removed to make room for permanent teeth, which erupt quickly in sick children. Specialists monitor the state of the cardiovascular system, which allows early detection of emerging ailments. Surgical treatment is also indicated for patients with early aging syndrome. With the help of angioplasty or coronary artery bypass grafting, the patency of blood vessels is restored.

Progeria is an incurable pathology whose development cannot be stopped. Experimental treatment of adults using stem cells and farnesyltransferase inhibitors makes it possible to restore subcutaneous fat, overall weight, and reduce bone fragility. The prognosis of the disease is always unfavorable. Patients die from acute coronary insufficiency or cancer. Prevention of progeria is impossible due to the fact that the disease is genetic. Lifelong therapy can only make it easier and prolong the life of patients. Continuing care, cardiac care and physical therapy are the main directions in the treatment of the disease.

Video: examples of people with premature aging syndrome

Video: TV show about people with progeria

Premature aging is a condition of premature modification of cells due to genetic, behavioral or pathological reasons. This is manifested primarily by loss of skin elasticity and decreased cognitive function.

But what are the reasons that lead to premature aging?

What is premature aging

There is no exact definition of the age at which a person becomes elderly, but, as a rule, this milestone is located around 65 years, the period when most people complete their main work activity.

ABOUT Premature aging is said to occur when changes associated with age begin to appear before this time..

Aging is a natural process that begins at birth and continues throughout life, characterized by a gradual increase in entropy (a function that describes states of equilibrium and disorder in a system) of the complex systems of our body.

Aging is characterized by changes in the qualities of the biological cells that make up the body. More precisely, the number of cells decreases and, at the same time, their functionality decreases.

The biological reasons for this mechanism are related to:

1. Deterioration of the protein synthesis mechanism
2. Accumulation of errors during DNA copying

Premature aging is a problem that affects 20% of people. Despite the significant increase in average life expectancy, there are just as many factors that can accelerate the physiological aging process, ranging from environmental factors, lifestyle, to the presence of genetic pathology.

Symptoms of aging – manifestations on the skin and brain

The transformations that the human body undergoes with age affect all organs and tissues:

1. cardiovascular system: the range of blood flow decreases and the stiffness of the heart muscle increases;
2. respiratory system: less oxygen enters the blood;
3. immune system: antibody production decreases;
4. musculoskeletal system: calcium is washed out from bones, which become more fragile;
5. sense organs: presbyopia and hearing problems.

But, among first symptoms of premature aging there are changes in the brain and skin.

Leather becomes thinner, due to the gradual loss of elastin and collagen, muscles lose tone, deep wrinkles appear and the skin begins to sag.

Brain loses some neurons and neural connections with subsequent decreased cognitive function, such as memory and processing ability, changes in behavior.

Causes – genes, behavior and pathological conditions

Many factors can accelerate aging, some of them are associated with pathologies, others are non-pathological in nature.

Factors that do not depend on diseases are:

1. genetic factors: Each person's genes may be more or less predisposed to certain diseases;
2. environmental factors: some areas of residence carry a greater or lesser risk of disease;
3. life style: poor diet, sedentary lifestyle, smoking, alcohol and drugs can damage many organs, which accelerates physiological aging;
4. socio-cultural factors: Older people who maintain social contacts or interests keep their brains active, and are less prone to dementia and depression;
5. Sun: Responsible for many skin changes due to the negative effects of ultraviolet rays.

Premature aging may be associated with the early onset of diseases characteristic of older people:

1. Alzheimer's disease and other dementias: brain changes that cause memory loss and other cognitive dysfunction;
2. diabetes: increased glucose levels requiring treatment with insulin;
3. osteoporosis and osteoarthritiswhich are associated with the loss of calcium from bones and articular cartilage;
4. Parkinson's disease: a degenerative pathology of the brain that causes trembling and difficulty moving;
5. urinary incontinence: inability to control urination;
6. atherosclerosis and cardiovascular diseases: Hardening of the arteries due to atherosclerotic plaque increases the risk of heart attacks and strokes;
7. cataract and presbyopia: clouding of the lens and difficulty focusing on close objects;
8. hypothyroidism: Decreased production of thyroid hormones due to anemia, low body temperature and heart failure.

In addition, there is a group rare genetic diseases, which directly lead to unnatural and premature aging:

1. Werner's syndrome
2. progeria or Hutchinson-Gilford syndrome
3. Down syndrome
4. Bloom's syndrome
5. trichothiodystrophy
6. dermopathy

How to prevent premature aging

The way to combat premature aging, if it is not associated with specific diseases, begins with correct lifestyle.

Recent research has shown that proper nutrition, physical activity and reducing oxidative stress increase activity telomerase, an enzyme that lengthens telomeres (the final part of chromosomes), which have the task of preventing the loss of information when chromosomes are copied.

Diet rich in fruits, vegetables and whole grains, low in fat and refined carbohydrates, prevents the accumulation of excess body weight, which is the cause of diseases such as atherosclerosis, cardiovascular disease, diabetes and kidney disease.

Physical exercise not only has a preventive effect against cardiovascular diseases, but also stimulates the restoration of neurons, reducing the risks of neurodegenerative disorders and dementia.

Oxidative stresscaused by free radicals, not only causes many diseases, but also damages cell membranes. Therefore, it is necessary to introduce additional antioxidants through diet, such as polyphenols, as well as vitamins that reduce the effects of free radicals.

Stem cells

Future therapies are likely to be based on stem cells, which are undifferentiated cells and can become any type of specialized cell in the body.

In the future, they could be used to repair or replace damaged tissue.

Gene therapy

Research in gene therapy, that is, the order of transmission of genetic material, is associated mainly with the treatment of Parkinson's and Alzheimer's diseases.