What is a rare disease?

By : dr. Cut Nurul Hafifah, SpA

Rare diseases are life threatening or chronically debilitating diseases with a low prevalence (less than 2000 people in a population) and a high level of complexity. Rare diseases are often seen as unimportant especially in developing countries due to small number of patients, but collectively these diseases are quite common. Over 7000 different rare diseases have been identified to date, affecting the lives of millions in Asia.

Majority (80%) of rare disease case are due to genetic abnormalities. The disease is chronic, progressive and often life-threatening. About 75% of the cases affect children and 30% are children under 5 years old. In general, there are approximately 6,000 – 8,000 types of rare disease worldwide. If all patients with genetic disease are combined, the number could reach up to 350 million people.

A few of the rare disease are also known as inborn error of metabolism. These diseases are often caused by an enzyme deficiency in a patient that cause an accumulation or a lack of a certain substance in the body. This accumulation or lack is the cause of the patient’s signs n symptoms. Examples of signs and symptoms that patients with rare diseases undergo are a regression in their developmental milestone, abdominal enlargement due to the accumulation of substrates in the liver and spleen, seizure, decrement of body weight, decrease consciousness, etc.

A number of examples of rare disease in Indonesia are Type 2 Mucopolycaccharidosis or Hunter Syndrome (incidence worldwide is 1:162,000), Maple Syrup Urine Disease (MSUD) (incidence worldwide is 1:180,000), glucose- galactose malbasorption syndrome (incidence is approximately 100 individuals worldwide) and many more.

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