3 Common But Not Known Rare Diseases

Diseases with a prevalence of less than 2.000 in 1 people in the community are called 'rare diseases'. However, although they are rare, the number of these diseases, which directly concern many branches of medicine, reaches approximately 8 thousand and affects 5-7 percent of the general population. Considering these rates; It is revealed that 300 million people in the world and 5-6 million people in our country are struggling with different rare diseases. Moreover, the number of rare diseases is increasing day by day and approximately 4-5 new rare diseases are defined every month. 80 percent of rare diseases are inherited and about 75 percent are seen in childhood. Symptoms of rare diseases, which are usually chronic and progressive diseases, often appear at birth or in childhood. However, due to their rarity, the diagnosis is usually made late, and as a result, children may lose the chance of treatment in diseases that can be treated. Considering that the rate of consanguineous marriages in our country is 20 percent and 57,8 percent of them are first-degree marriages, the importance of the problem is understood more clearly.

Acıbadem University Rare Diseases Center Director and Medical Faculty Medical Genetics Department Head Prof. Dr. Uğur Özbek pointed out that rare diseases are a serious public health problem not only in our country but also in all other countries at the global level, and said, “Rare diseases contain some more important problems than other diseases. The first of these is the difficulty of clinical diagnosis and the length of time until the diagnosis is made. However, the earlier the diagnosis is made, the better the disease can be treated and managed. In addition, the lack of laboratory tests for rare diseases or only a limited number of them, and the lack of up-to-date treatment protocols and facilities for many of them are also a serious problem. In addition to these, Medical Genetic Specialist Prof. Dr. Emphasizing that the difficulties in supplying the drugs used for treatment and the high cost of the drugs continue to be an important problem. Dr. Uğur Özbek says, “Since the lack of knowledge and experience caused by the rarity of the diseases, and the high number and variety of diseases, rare diseases should be handled in a separate category within the general health system.” Acıbadem University Faculty of Medicine Head of Medical Genetics Department Prof. Dr. Uğur Özbek talked about 28 rare diseases within the scope of 3 February World Rare Diseases Day; important warnings!

ALBINISM: WHITE SKIN AND HAIR

Albinism; It is an inherited disease caused by genetic mutations that partially or completely prevent the production of the melanin pigment that gives color to our eyes, skin and hair. Therefore, patients with albinism mostly draw attention with their white skin and hair. Because of the lack of melanin, the risk of developing skin cancer in patients with albinism increases, as their skin lacks protection against sunlight. In addition, it is thought that approximately 4 people in our country are affected by albinism, which is characterized by severe sensitivity to light and vision deficiency. Medical Geneticist Prof. Dr. Uğur Özbek stated that for the development of albinism, two genes, one from the mother and one from the father, must be mutated and said, “Both individuals become carriers of a mutation that causes the disease. In these couples, the probability of giving birth to a child with albinism is 25 percent.

What are the symptoms? Very thin white skin and hair are the most typical symptoms. The eyes are sensitive to light and can move involuntarily back and forth due to this sensitivity.

How is it treated? There is no specific treatment for albinism. Treatment is symptom-specific and includes regular ophthalmologic follow-up examination. To reduce sensitivity to light and increase contrast sensitivity, the use of filtering glasses or contact lenses (red or brown) and protective skin creams are recommended.

PHENYLKETONURIA: CAN CAUSE MENTAL DISABILITY

Phenylketonuria; A disease caused by a problem in amino acid metabolism that, if left untreated, can lead to mild or severe intellectual disability. In our country, one out of every 4 newborn babies opens their eyes to the world with phenylketonuria. In order for the amino acid called phenylalanine, which is taken with food and is necessary for our body, to perform its functions, it must be converted into enzymes called tyrosine and phenylalanine hedroxylase. If there is an error in this conversion, the increased phenylalanine in the blood and other body fluids can damage the brain and cause very serious problems such as mild or severe intellectual disability, as well as the inability to develop skills such as walking and sitting.

What are the symptoms? Phenylketonuria is a disease that can be detected and treated with newborn screening. However, if it is not diagnosed and treated, the symptoms begin as very mild or severe a few months after birth. Gradual developmental delay, vomiting, tremor, eczema, pale skin, stunted growth, neurological seizures, musty odor (on the skin, urine or breath), behavioral disorders (hyperactivity) are some of the symptoms of this disease.

How is it treated? With the early diagnosis of phenylketonuria, neurological and other problems can be prevented and patients can lead a healthy life by applying a diet treatment without phenyl-allenin. The mainstay of the treatment is a low phenylalanine diet and the use of a mixture of ammoniosit drugs.

HEMOPHILIA: CONTINUOUS BLEEDING

Hemophilia; It is an inherited disease that develops due to the deficiency of proteins called coagulation factors, characterized by delayed or non-stop bleeding due to the blood not clotting properly. Bleeding may occur externally due to impacts or traumas, or it may develop as internal bleeding. In our country, 10 out of every 1 thousand babies is diagnosed with hemophilia. Although hemophilia mostly affects men, milder forms of the disease can also be seen in female carriers.

What are the symptoms? Bleeding anomalies usually occur when babies begin to learn to walk. Its severity varies depending on the degree of coagulation factor deficiency. If the biological activity of the coagulation factor is low, hemophilia is severe and sudden and abnormal bleeding can occur after surgery, tooth extraction, injury, or even simple trauma. Although bleeding mostly develops around the joints and muscles, it can start in any area after trauma or injury.

How is it treated? Prenatal diagnosis is possible in hemophilia, and children can lead a healthy life thanks to effective treatment. The treatment of the disease is based on the principle of intravenous administration of the missing clotting factors to the body. Treatment can be applied after bleeding or to prevent bleeding. In some cases, surgical intervention may be needed.