Orphan disease and its treatment. List of Orphan Diseases

Hypertension, gastritis, diabetes mellitus are quite common diseases. They are from our friends, relatives, from us, in the end. But there are a number of very rare pathologies. New diseases that people have not encountered before are revealed every year. So, the orphan disease - what is it? How to deal with this?

Orphan disease: what is it?

Orphan diseases are very rare diseases. They are also called "orphans". Nevertheless, there are about seven thousand similar pathologies. Fortunately, the probability of finding one of them is very small. If we consider the entire population of the Earth, then rare orphan diseases occur in one person out of two thousand. In different countries, statistics on orphan pathologies differ depending on the standard of living of the population, its genetic characteristics, etc. For example, in Europe, leprosy epidemics have long since sunk, but in India the percentage of patients is much higher than in other countries.

Since it is not profitable for private individuals to invest in the search for vaccines and medicines for rare diseases, the government of the countries stimulates this process at the state level. In addition, people suffering from orphan pathologies need support and benefits. Decree on orphan diseases, adopted by the Government of the Russian Federation on April 26, 2012, is designed to regulate all issues related to the provision of medical and other assistance to such persons.

Origins of Orphan Diseases

Most often, orphan diseases are congenital and are caused by human genetics. They can be detected immediately after the birth of the child in the light or in childhood. But the vast majority of diseases become evident only with the time when a person grows up.

Among the rare diseases can be found pathologies, the emergence of which is due to infectious, autoimmune and toxic processes in the body. Good support for the development of orphan diseases - increased radiation and poor environmental conditions, as well as infections carried over in childhood, weakened immunity and heredity.

Orphan diseases are often difficult to cure, so they smoothly flow into the chronic stage. Since it is impossible to stop pathological processes in some cases, the quality of life of a sick person gradually deteriorates, and eventually death occurs. The main task of all medical procedures is to increase the life expectancy, reduce symptoms and increase the patient's ability to function.

Orphan diseases: the order of the Ministry of Health of the Russian Federation

In Russia, an orphan disease is one that occurs at a frequency of 10: 100,000. The order on orphan diseases, published by the government of the Russian Federation in 2012, clearly indicated the list of rare diseases. There are 230 names: nephrotic syndrome, X-chromosome breakage syndrome, Angelmann syndrome, cat-scream syndrome, Lejen's syndrome, Williams syndrome, etc.

Also, the government resolution contains rules for the registration of persons suffering from orphan diseases and the procedure for providing them with medical assistance.

If you believe the data of the Russian Academy of Medical Sciences (Russian Academy of Medical Sciences), in Russia about 300 000 people suffer from orphan pathologies. Regional authorities provide financing for orphan diseases and their treatment at the expense of the local budget.

An important procedure that allows one to discover one of the five rare hereditary diseases in time is carried out in all hospitals after the birth of the baby is completely free. It is called "neonatal screening".

24 Orphan diseases seriously threatening human life

Also, an official list of rare diseases, which most often lead to the imminent death or disability of patients in the territory of Russia.

The first line is occupied by such an orphan disease, as haemolytic-uremic syndrome. HUS has a toxicological nature, leads to kidney failure and dehydration of the body.

Also included in this list is the Marciafava-Mikeli disease associated with the destruction of red blood cells in the blood, aplastic anemia, unspecified, Stewart-Prower's disease and Evans syndrome. Evans syndrome is a compound of autoimmune hemolytic anemia and a phenomenon such as autoimmune thrombocytopenia.

Another item on the list is the disease of "maple syrup": a genetic disease that provokes the accumulation of certain substances in the urine, as a result of which it smells like a maple tree.

Disturbances in the metabolism of fatty acids, homocystinuria, glutariciduria, galactosemia - all these diseases are also included in the list and lead to serious consequences.

Hemolytic-uremic syndrome

This disease was first described in 1955. Soon, Gasser's disease was included in the world list of rare orphan diseases.

The syndrome is more common in children than in adults. It provokes hemolytic anemia and kidney failure. It appears against the background of diarrhea and infection of the upper respiratory tract.

The relationship between the development of the disease and the use of oral contraceptives, drugs, as well as the presence of AIDS or systemic lupus erythematosus has been observed.

The disease can be hereditary and transmitted from parents to children on a dominant or recessive basis.

Acquired hemolytic-uremic syndrome is provoked by toxins and bacteria that can damage endothelial cells. The overwhelming number of cases (about 70%) is provoked by E. coli O157: H7 infection. It can be infected from cats, as well as after consuming meat that has not undergone sufficient heat treatment, untreated water and unpasteurized milk.

Cystic fibrosis is the most common orthopedic disease in the Russian Federation

Of all the orphan diseases, cystic fibrosis in the Russian Federation is most common. This disease is considered hereditary and manifests itself in the child from the first days of life.

The cause of pathological changes in the body is the mutation of the gene, which leads to an increased accumulation of viscous mucus in certain organs. There are several forms of cystic fibrosis: pulmonary, broncho-pulmonary and intestinal.

With the defeat of the bronchi and lungs from about two years old the child begins to suffer cough accompanied by thick phlegm. In the event that a pathological process is associated with a bacterial infection, recurrent bronchitis or pneumonia develops.

Intestinal form is accompanied by a decreased enzymatic activity of the gastrointestinal tract, as a result of which undigested food begins to rot in the intestine. This leads to intoxication, disruption of stool, vomiting, etc.

Treatment of orphan diseases in acute form is carried out in a hospital. The main task of therapy in cystic fibrosis is the timely evacuation of mucus from the body ("N-acetylcysteine"), increasing the enzymatic activity of the stomach and pancreas ("Pancreatin", "Festal").

Chronic mucous candidiasis

Such an orphan disease, as chronic mucous candidiasis, is associated with impaired leukocyte function. This leads to the fact that the skin and mucous tissues of the body become an easy prey for the fungi of the genus Candida. This disease is due to human genetics and is inherited.

What are the symptoms of chronic mucocutaneous candidiasis?

1. First, the skin, nails and mucous tissues are affected by the fungus.
2. Secondly, a person constantly feels weakness and lethargy. Has low blood pressure.
3. Third, the disease lowers blood sugar and cramps occur.
4. Fourth, hair loss and the appearance of hyperpigmentation of the skin are possible.

Chronic mucous candidiasis provokes the development of chronic lung disease, as well as hepatitis. In children, the disease causes a slowdown in growth and development.

Diagnosis is by genetic research.

The main method of therapy is the administration of antifungal agents ("Nystatin", "Clotrimazole", etc.).

Zygomycosis

The list of rare orphan diseases also includes zygomycosis.

This disease begins to develop after infection with dimorphic fungi. They enter the body by inhalation or through damaged skin. Dimorphous fungi live in places with high humidity - in the soil, rotting plants. In some cases, they appear on moldy fruit, cheese and bread.

Zygomatosis with healthy immunity is almost impossible. There are only a few cases where a healthy person is infected with fungi after a penetrating injury, as well as an insect bite.

In general, zygomycosis affects people with very weak immunity:

• Patients with diabetes mellitus;
• Suffering from prolonged acidosis;
• After organ transplantation;
• Treated with glucocorticoids;
• Infected with AIDS.

Zygomycosis gradually leads to necrosis of tissues and vessels, which are affected by fungi. Therefore, the treatment is aggressive and the most effective methods of therapy today are tissue excision and the use of amphotericin in large doses.

Lynch syndrome

Orphan diseases, the list of which is supplemented each year with new names, include Lynch syndrome - colon cancer, which is inherited. In this case, the malignant tumor develops due to genetic pathology and mutation of several genes. That's why it does not belong to the category of conventional cancers.

This syndrome, unfortunately, is often found: on the territory of Europe it is found in one person of two thousand. Such a diagnosis is made when at least three of the patient's relatives (first order) had colon cancer before the age of 50 years.

Carriers of mutant genes are predisposed not only to malignant tumors of the intestine, but also to colorectal cancer, endometrial cancer , ovaries, stomach, brain, etc.

The syndrome is diagnosed according to Amsterdam criteria II.

Timo

The list of rare orphan diseases includes thymoma. Under this name all kinds of tumors of the thymus gland are hidden. As a rule, they are benign, but this definition is very arbitrary. Without proper treatment, these tumors are able to metastasize, and after removal - to recur.

During the growth period, thymoma practically does not make itself felt. When it reaches a certain size, there are symptoms of compression of nearby organs, there is swelling of the cervical veins, as well as shortness of breath and rapid heart beat. Children's thymoma can significantly deform the chest.

In addition to the above symptoms, there may be:

• Puffiness of face;
• Exacerbation of respiratory diseases;
• Pain, giving to the shoulder, neck and between the shoulder blades.

Diagnose thymoma by X-ray examination, computed tomography.

The main method of treatment is operative. Removal of a tumor is simply necessary, otherwise it will grow, and the patient's condition worsens.

Sarcoma of bones and articular cartilage of extremities

Sarcomas (or malignant tumors) of bones and articular cartilages are orphan diseases. The list of rare pathologies includes sarcoma, because it is not a typical cancer.

Classical cancer is formed due to epithelial cells, and the sarcoma is not limited in this respect - it can affect bone tissue (osteosarcoma), cartilage (chondrosarcoma), muscle (myosarcoma), fat (liposarcoma), walls of blood and lymphatic vessels. The rest of the sarcoma is similar to an ordinary malignant tumor, but it is growing at an accelerated rate.

The real causes of the development of this disease have not yet been established. To scientists provoking tumor factors, scientists include:

• Exposure to carcinogens;
• The effect of harmful chemicals;
• radiation;
• Infection with viruses;
• Injury.

Early diagnosis of the disease is almost impossible. Sarcoma does not show itself much, except for dull pain in the area of tumor localization. Chemotherapy, surgery, radiotherapy are the main methods of treating the disease.

Retinoblastoma

Orphan diseases, the list of which in the Russian Federation consists of 230 items, includes retinoblastoma. This disease is associated with the appearance of a malignant tumor on the retina of the eye. It is caused genetically: it is caused by a mutation of the Rb gene.

Retinoblastoma begins to develop in infancy and exacerbated by two years. The disease can be considered childish, since the vast majority of cases are diagnosed during the first five years of life.

The main symptoms of the disease include unnatural glow of the pupil, eye pain and sharp deterioration of vision. But in an infant it is almost impossible to identify these symptoms.

For diagnosis requires MRI, ultrasound, CT.

For treatment conservative methods are used, but they are costly: for a five-week course of radiotherapy, clinics take from 10 to 12 thousand euros (about 100 thousand rubles). Cryotherapy is widely used, as well as photocoagulation. The main advantage of these procedures is that they allow you to keep your eyesight to the patient.

Hodgkin's disease

Another common orphan disease is lymphogranulomatosis (Hodgkin's disease). The disease affects only the organs containing lymphoid tissue. Therefore, the most characteristic symptom for her is the enlargement of the lymph nodes. In the first place, pathological processes affect the abdominal and thoracic cavities. As a result, the patient feels chest pain, experiences shortness of breath, coughing and loss of appetite. In complicated cases, enlarged lymph nodes can exert pressure on the stomach and even move the kidneys.

Elevated temperature, sweating and a frequent feeling of chills are associated with the development of Hodgkin's disease.

The reasons that triggered pathological processes in lymphoid tissue, the scientists have not found. There are suggestions that the development of the disease triggers the Epstein-Barr virus or immunodeficiency states.

Treatment of lymphogranulomatosis is handled by an oncologist and hematologist. The patient undergoes ultrasound and biopsy, CT or MRI.

If you do not treat the disease, then within 10 years, death occurs. The main methods of therapy are the administration of antitumour agents and radiotherapy.

Thus, there are many rare diseases. Some of them are found in citizens of absolutely all countries, and some - only in specific regions of the planet. Medical and financial support for patients who suffer from rare diseases is included in the social programs of all developed countries.