Hypertension, gastritis, diabetes are quite common diseases. In the end, our friends and relatives 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 this?
Orphan disease: what is it?
Orphan diseases are very rare diseases. They are also called "orphan". Nevertheless, there are already about seven thousand of 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 differs depending on the living standards of the population, its genetic characteristics, etc. For example, in Europe, leprosy epidemics have long vanished, but in India the percentage of patients is much higher than in other countries.
Since it is commercially unprofitable for private individuals to invest in the search for vaccines and drugs for rare diseases, the government of the countries stimulates this process at the state level. In addition, people with orphan pathologies need support and benefits. The Orphan Disease Ordinance, 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 diseases become apparent only with time, when a person grows up.
Among rare diseases, pathologies can be found, the appearance of which is due to infectious, autoimmune and toxic processes in the body. Good help for the development of orphan diseases is increased radiation and poor environmental conditions, as well as infections from 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 is gradually deteriorating, and in the end death occurs. The main task of all treatment procedures is to increase life expectancy, reduce symptoms and increase the patient's legal capacity.
Orphan diseases: order of the Ministry of Health of the Russian Federation
In Russia, an orphan disease is considered to be one that occurs with a frequency of 10: 100,000. The Orphan disease order issued by the Russian government in 2012 clearly identified a list of rare diseases. There are 230 items:
nephrotic syndrome, fragile X-chromosome
syndrome, Angelman syndrome, cat scream syndrome, Lejeune syndrome, Williams syndrome, etc.
Also, the government decree contains the rules for the registration of persons suffering from orphan diseases, and the procedure for providing them with medical care.
If you believe the data of the RAMS (Russian Academy of Medical Sciences), then in the Russian Federation about 300,000 people suffer from orphan pathologies. Regional authorities, at the expense of the local budget, finance orphan diseases and their treatment.
An important procedure that allows one of the five rare hereditary diseases to be detected in a newborn on time is carried out in all hospitals after the baby is born, completely free of charge. It is called "neonatal screening."
24 orphan diseases that seriously threaten a person’s life
An official list of rare diseases that most often lead to imminent death or disability of patients in Russia has also been compiled.
The first line is occupied by such an orphan disease as hemolytic uremic syndrome. HUS has a toxicological nature, leading to renal failure and dehydration.
Also included in this list is Markiafava-Mikeli disease, associated with the destruction of red blood cells in the blood, unspecified aplastic anemia, Stuart-Prauer 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 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 of maple tree.
Disorders of fatty acid metabolism, homocystinuria, glutaricaciduria, 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 disease entered the world list of rare orphan diseases.
The syndrome is more common in children than in adults. It provokes hemolytic anemia and renal failure. It appears on the background of diarrhea and upper respiratory tract infection.
A connection was observed 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 the patient.
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 vast majority of cases (about 70%) are provoked by infection with E. coli O157: H7. You can get it from cats, as well as after eating meat that has not undergone sufficient heat treatment, uncleaned water and unpasteurized milk.
Cystic fibrosis - the most common orphan disease in the Russian Federation
Of all the orphan diseases, cystic fibrosis in the territory of 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 a gene mutation, which leads to an increased accumulation of viscous mucus in certain organs. There are several forms of cystic fibrosis: pulmonary, intestinal, bronchopulmonary and intestinal.
With damage to the bronchi and lungs, from about two years old, the child begins to suffer a cough, accompanied by thick sputum. In the case when a bacterial infection joins the pathological process,
recurrent bronchitis or pneumonia develops.
The intestinal form is accompanied by decreased enzymatic activity of the digestive tract, as a result of which undigested food begins to rot in the intestine. This leads to intoxication of the body, impaired stool, vomiting, etc.
Treatment of orphan diseases in an acute form is carried out in a hospital. The main goal of therapy for cystic fibrosis is 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 a dysfunction of white blood cells. This leads to the fact that the skin and 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 mucous candidiasis?
- Firstly, the skin, nails and mucous tissues are affected by the fungus.
- Secondly, a person constantly feels weakness and lethargy. Suffers from low blood pressure.
- Thirdly, the disease lowers blood sugar and cramps.
- 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 through genetic research.
The main method of therapy is the use 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. Dimorphic mushrooms 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 zygomycosis with a healthy immune system. There are only a few cases when a healthy person became infected with fungi after a penetrating wound, as well as an insect bite.
Zygomycosis mainly affects people with a very weakened immune system:
- patients with diabetes;
- suffering from prolonged acidosis;
- after organ transplantation;
- undergoing glucocorticoid treatment;
- infected with AIDS.
Zygomycosis gradually leads to necrosis of tissues and blood vessels to which fungi fall. 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 annually updated with new names, include Lynch syndrome - colon cancer, which is inherited. In this case, a malignant tumor develops due to genetic pathology and mutations of several genes. That is why it does not belong to the category of conventional cancers.
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 under the age of 50 years.
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 Amsterdam criteria II.
Timoma
The list of rare orphan diseases includes thymoma. Under this name, all types of thymus tumors 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, symptoms of compression of nearby organs appear, swelling of the cervical veins occurs, and shortness of breath and heart palpitations are observed. Pediatric thymoma is able to significantly deform the chest.
In addition to the above symptoms, the following may occur:
- puffiness of the face;
- exacerbation of respiratory diseases;
- pains extending to the shoulder, neck and between the shoulder blades.
Timoma is diagnosed using x-ray examination, computed tomography.
The main treatment method is surgical. Removal of the tumor is simply necessary, otherwise it will grow, and the patient will feel worse.
Sarcoma of bones and articular cartilage of the extremities
Sarcomas (or malignant tumors) of bones and articular cartilages are orphan diseases. The list of rare pathologies includes sarcoma, since it is not a typical cancer.
Classical 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), adipose (liposarcoma), walls of blood and lymph vessels. The rest of the sarcoma is similar to an ordinary malignant tumor, but it is growing at an accelerated pace.
The real reasons for the development of this disease have not yet been established. To the factors provoking the tumor, scientists include:
- exposure to carcinogens;
- the effects of harmful chemicals;
- radiation;
- virus infection;
- injuries.
Early diagnosis of the disease is almost impossible. The sarcoma almost does not manifest itself, except 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. It is genetically determined: caused by a mutation in the Rb gene.
Retinoblastoma begins to develop in infancy and is exacerbated by two years. 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 the unnatural glow of the pupil, eye pain and a sharp deterioration in vision. But in a baby, it is almost impossible to identify these symptoms.
Diagnosis requires MRI, ultrasound, CT.
Conservative methods are used for treatment, but they are expensive: for a five-week course of radiation therapy in clinics, they 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 the patient to maintain 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 chest pain, shortness of breath, coughing and loss of appetite. In complex cases, enlarged lymph nodes can exert pressure on the stomach and even displace the kidneys.
Fever, sweating, and a frequent sensation of chills accompany the development of Hodgkin's disease.
Scientists have not found the reasons that trigger pathological processes in lymphoid tissue. There are suggestions that the development of the disease triggers the Epstein-Barr virus or immunodeficiency states.
The oncologist and hematologist are involved in the treatment of lymphogranulomatosis. The patient undergoes an ultrasound and biopsy, CT scan or MRI.
If you do not treat the disease, then death occurs within 10 years. The main methods of therapy are the use of antitumor agents and radiation procedures.
Thus, there are many rare diseases. Some of them are found in citizens of absolutely all countries, and some are found 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.