What Diseases are Considered Rare?
Rare diseases are defined as conditions that affect less than 1 in 2,000 people worldwide. According to the European Union’s definition, rare diseases are those that have a prevalence of less than 5 in 10,000 people. Rare diseases can be caused by genetic mutations, environmental factors, or a combination of both. In this article, we will explore some of the most rare and serious diseases that affect millions of people worldwide.
Most Rare Diseases
Here are some of the most rare diseases that are considered as the most serious and widespread:
- Achondrogenesis: a genetic disorder that affects bone development, resulting in severely deformed limbs and skeleton.
- Aicardi Syndrome: a rare genetic disorder that affects brain development, causing seizures, intellectual disability, and facial abnormalities.
- Asphyxiating Thoracic Dystrophy (Jeune Syndrome): a rare genetic disorder that causes lung and rib cage development problems, leading to shortness of breath and limited mobility.
- Bloom Syndrome: a rare genetic disorder that affects the body’s ability to repair damaged DNA, leading to weakened immune system and increased cancer risk.
- Chediak-Higashi Syndrome: a rare genetic disorder that affects the immune system, causing recurring infections, bruising, and organ failure.
- CHILD Syndrome: a rare genetic disorder that affects the development of skin, hair, and nails, causing congenital abnormalities and intellectual disability.
Top 5 Rarest Diseases
According to a report by the NIH, the top 5 rarest diseases are:
| Disease | Prevalence |
|---|---|
| RPI Deficiency | <1 in 1,000,000 |
| Fields Condition | <1 in 100,000 |
| Kuru | <1 in 50,000 |
| Methemoglobinemia | <1 in 20,000 |
| Hutchinson-Gilford Progeria | <1 in 10,000 |
Life Expectancy of Rare Diseases
A report from the 2005 European Conference on Rare Diseases analyzed the life expectancy of 323 rare diseases and found that:
- 25.7% of rare diseases are potentially lethal before 5 years of age
- 36.8% lead to a reduced life expectancy
- Only about a third (37.5%) are associated with a normal lifespan
Extremely Rare Causes of Infectious Disease
Prions are an extremely rare cause of infectious diseases, accounting for only about 1% of all infectious diseases.
Rare Inflammatory Diseases
- VEXAS: a rare and often-deadly inflammatory disorder that affects the immune system, causing anemia, recurrent fevers, painful rashes, blood clots, and shortness of breath.
Treatable Rare Diseases
Here are some rare diseases that have a cure or treatment:
- Tuberculosis: a bacterial infection that can be treated with antibiotics.
- HIV/AIDS: a viral infection that can be treated with antiretroviral therapy.
- Malaria: a parasitic infection that can be treated with antimalarial medication.
- COVID-19: a viral infection that can be treated with antiviral medication and supportive care.
- Cholera: a bacterial infection that can be treated with antibiotics.
Conclusion
Rare diseases are a significant public health concern, affecting millions of people worldwide. While there are many rare diseases, some are more serious than others, and some can be treated or cured with the right medical care. By understanding the causes, symptoms, and treatments of rare diseases, we can work towards improving the quality of life for those affected.