Hypertension, gastritis, diabetes are fairly common diseases. Our friends, relatives, we, after all, have them. But there are a number of very rare pathologies. New diseases that people have not encountered before are identified every year. So, orphan disease - what is it? How to deal with it?
Orphan disease: what is it?
Orphan diseases are very rare diseases. They are also called "orphans". Nevertheless, there are already about seven thousand such rare 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 sunk into oblivion, but in India the percentage of patients is much higher than in otherscountries.
Since it is commercially unprofitable for individuals to invest in the search for vaccines and drugs for rare diseases, the government of countries stimulates this process at the state level. In addition, people suffering from orphan pathologies need support and benefits. The Decree on orphan diseases, adopted by the government of the Russian Federation on April 26, 2012, is intended to regulate all issues related to the provision of medical and other assistance to such persons.
The 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 a child or in childhood. But the vast majority of illnesses only become apparent over time as the person grows older.
Among the rare diseases one can find pathologies, the appearance of which is caused by infectious, autoimmune and toxic processes in the body. A good help for the development of orphan diseases is increased radiation and poor environmental conditions, as well as infections suffered 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 in some cases to stop pathological processes, the quality of life of a sick person gradually deteriorates, and eventually death occurs. The main objective of all medical procedures is to increase life expectancy, reduce symptoms and increase the patient's capacity.
Orphan diseases:order of the Ministry of He alth of the Russian Federation
In Russia, an orphan disease is one that occurs with a frequency of 10:100,000. The order on orphan diseases issued by the Russian government in 2012 clearly defined the list of rare diseases. There are 230 names of them: nephrotic syndrome, fragile X syndrome, Angelman syndrome, cat's cry syndrome, Lejeune's syndrome, Williams syndrome, etc.
The government decree also contains the rules for registering persons suffering from orphan diseases and the procedure for providing them with medical care.
According to the data of the Russian Academy of Medical Sciences (Russian Academy of Medical Sciences), about 300,000 people in the Russian Federation suffer from orphan pathologies. Regional authorities finance orphan diseases and their treatment at the expense of the local budget.
An important procedure that allows timely detection of one of the five rare hereditary diseases in a newborn is carried out in all hospitals after the birth of the baby for free. It's called "neonatal screening".
24 orphan diseases that seriously threaten human life
An official list of rare diseases has also been compiled, which most often lead to an early death or disability of patients in Russia.
The first line is occupied by such an orphan disease as hemolytic-uremic syndrome. HUS is toxicological in nature, leading to kidney failure and dehydration.
Also included in this listMarchiafava-Micheli disease associated with the destruction of erythrocytes in the blood, aplastic anemia, unspecified, Stuart-Prower disease and Evans syndrome. Evans syndrome is a combination of autoimmune hemolytic anemia and a phenomenon such as autoimmune thrombocytopenia.
Another item on the list is maple syrup disease: a genetic disorder that causes certain substances to accumulate in the urine, causing it to smell like maple.
Fatty acid metabolism disorders, homocystinuria, glutaric aciduria, galactosemia - all of 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 renal failure. Manifested against the background of diarrhea and infection of the upper respiratory tract.
There is a connection between the development of the disease and the use of oral contraceptives, drugs, as well as the presence of AIDS or systemic lupus erythematosus in a patient.
The disease can be hereditary and transmitted from parents to children in a dominant or recessive manner.
Acquired hemolytic uremic syndrome is caused by toxins and bacteria that can damage endothelial cells. The vast majority of cases (about 70%) are provoked by E. coli O157:H7 infection. You can get it from cats, as well as after eating meat that has not passedsufficient heat treatment, raw water and unpasteurized milk.
Cystic fibrosis is the most common orphan disease in Russia
Of all the orphan diseases, cystic fibrosis is the most common in the Russian Federation. This disease is considered hereditary and manifests itself in a child from the first days of life.
The cause of pathological changes in the body is a gene mutation, which leads to an increased accumulation of viscous mucus in various organs. There are several forms of cystic fibrosis: pulmonary-intestinal, broncho-pulmonary and intestinal.
When the bronchi and lungs are affected, from about two years old, the child begins to suffer from coughing, accompanied by thick sputum. In the event that a bacterial infection joins the pathological process, recurrent bronchitis or pneumonia develops.
The intestinal form is accompanied by a reduced enzymatic activity of the gastrointestinal tract, as a result of which undigested food begins to rot in the intestines. This leads to intoxication of the body, impaired stool, vomiting, etc.
Treatment of acute orphan diseases is carried out in a hospital. The main task of therapy for 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
An orphan disease such as chronic mucous candidiasis is associated with dysfunction of leukocytes. This results in the skinand the mucous tissues of the body become easy prey for fungi of the genus Candida. This disease is caused by human genetics and is inherited.
What are the symptoms of chronic mucosal candidiasis?
- Firstly, the skin, nails and mucous tissues are affected by the fungus.
- Secondly, a person constantly feels weak and lethargic. Suffering from low blood pressure.
- Third, when you are sick, your blood sugar level drops and seizures appear.
- Fourthly, hair loss and skin hyperpigmentation may occur.
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 occurs through genetic testing.
The main method of therapy is taking 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. Dimorphic fungi live in places with high humidity - in the soil, rotting plants. In some cases, they appear on moldy fruits, cheese and bread.
It is almost impossible to get sick with zygomycosis with he althy immunity. There are only a few cases where a he althy person became infected with fungi after a penetrating wound, as well as an insect bite.
Mainly zygomycosisaffects very immunocompromised people:
- diabetics;
- suffering from long-term acidosis;
- organ transplant recipients;
- treated with glucocorticoids;
- AIDS infected.
Zygomycosis gradually leads to necrosis of tissues and blood vessels, which get 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 updated annually with new names, include Lynch syndrome - colon cancer, which is inherited. In this case, a malignant tumor develops due to genetic pathology and mutation of several genes. That is why it is not classified as a common cancer.
This syndrome, unfortunately, is common: in Europe it is found in one person out of two thousand. A similar diagnosis is made in cases where at least three relatives of the patient (first order) were diagnosed with colon cancer before the age of 50.
Carriers of mutant genes are predisposed not only to malignant tumors of the intestine, but also to colorectal cancer, cancer of the endometrium, ovaries, stomach, brain, etc.
The syndrome is diagnosed according to the Amsterdam criteria II.
Thymoma
Listrare orphan diseases includes thymoma. Under this name, all types of tumors of the thymus gland are hidden. As a rule, they are benign, but such a definition is very conditional. Without proper treatment, these tumors are capable of metastasizing and recurring after removal.
During the period of growth, thymoma practically does not make itself felt. When it reaches a certain size, symptoms of compression of nearby organs appear, swelling of the jugular veins occurs, as well as shortness of breath and palpitations. Children's thymoma can significantly deform the chest.
In addition to the above symptoms, there may be:
- puffy face;
- exacerbation of respiratory diseases;
- pain radiating to the shoulder, neck and between the shoulder blades.
Thymoma is diagnosed using X-ray examination, computed tomography.
The main method of treatment is surgery. Removal of the tumor is simply necessary, otherwise it will grow, and the patient's he alth will deteriorate.
Sarcoma of bones and articular cartilage of limbs
Sarcomas (or malignant tumors) of bones and articular cartilage are orphan diseases. The list of rare pathologies includes sarcoma as it is not a typical cancer.
Classic cancer is formed due to epithelial cells, and sarcoma is not limited in this regard - it can affect bone tissue (osteosarcoma), cartilage (chondrosarcoma), muscle (myosarcoma), fat (liposarcoma),walls of blood and lymph vessels. The rest of the sarcoma is similar to a normal malignant tumor, only now it grows at an accelerated pace.
The real causes of this disease have not yet been established. To provoking tumor factors scientists include:
- exposure to carcinogens;
- impact of harmful chemicals;
- radiation;
- virus infection;
- injuries.
Early diagnosis of the disease is almost impossible. Sarcoma almost does not manifest itself, except perhaps with a 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, include retinoblastoma. This disease is associated with the appearance of a malignant tumor on the retina of the eye. It is genetically determined: caused by a mutation of the Rb gene.
Retinoblastoma begins in infancy and worsens by age two. The disease can be considered childhood, since the vast majority of cases are diagnosed during the first five years of life.
The main symptoms of the disease include an unnatural glow of the pupil, eye pain and a sharp deterioration in vision. But it is almost impossible to identify these symptoms in an infant.
Diagnosis requires MRI, ultrasound, CT.
Conservative methods are used for treatment, but they are expensive: clinics charge from 10 to 12 thousand euros (about 100 thousand rubles) for a five-week course of radiation therapy. Widecryotherapy and photocoagulation are used. The main advantage of these procedures is that they save the patient's vision.
Hodgkin's disease
Another common orphan disease is lymphogranulomatosis (Hodgkin's disease). The disease affects only organs containing lymphoid tissue. Therefore, the most characteristic symptom for her is an increase in lymph nodes. First of all, pathological processes affect the abdominal and chest cavities. As a result, the patient feels pain in the chest, experiences shortness of breath, coughs and loss of appetite. In severe cases, enlarged lymph nodes can put pressure on the stomach and even displace the kidneys.
Fever, sweating, and frequent chills are associated with Hodgkin's disease.
Causes triggering pathological processes in the lymphoid tissue, scientists have not found. There are suggestions that the development of the disease triggers the Epstein-Barr virus or immunodeficiency states.
An oncologist and a hematologist deal with Hodgkin's disease. Patient undergoing ultrasound and biopsy, CT or MRI.
If you do not treat the disease, then death occurs within 10 years. The main methods of therapy are anticancer drugs and radiation procedures.
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 includesin the social programs of all developed countries.
