Low prevalence
Rare Diseases are generally observed with low frequency in a specific population. In different countries, the definition of a Rare Disease may differ. For instance, in the USA, a disease is typically considered rare if it affects 200,000 or fewer people, whereas in the European Union and Turkey, rare diseases are defined as diseases that are observed 1 in 2000 people or less.
Genetic or Non-Genetic Origin
Approximately 80% of Rare Diseases are caused by genetic factors. The cause of 20% is either unknown or defined as environmental factors. Almost all genetic diseases are rare diseases; however, not all Rare Diseases are genetic diseases.
Challenges in Diagnosis and Treatment
Rare Diseases can often be challenging to diagnose because many healthcare professionals may not have encountered these diseases. This situation can complicate timely intervention for early diagnosis and effective treatment.
Chronic and Life-Threatening Nature
Many Rare Diseases can be chronic and life-threatening. The disease often significantly impacts a person’s quality of life and may lead to long-term health issues.
Wide range of signs and symptoms
Rare Diseases often exhibit a range of different symptoms and clinical signs. Even among individuals with the same disease, significant variations can occur.
Social and Psychological Effects
Rare Diseases can impact not only physical health but also social and psychological well-being. Individuals and their families living with these diseases often seek support and understanding.
Limited Treatment Options and Challenges in Drug Development
In addition to the limited number of treatment options for Rare Diseases, developing drugs for these diseases is often costly and challenging. Therefore, regulations and incentives that encourage research in this field are of great importance.