February 28: Raising Awareness on Rare Diseases and the Importance of Early Diagnosis

Every February 28, the world commemorates Rare Disease Day to bring visibility to those living with these conditions and the challenges they face in obtaining timely diagnosis and treatment. Globally, more than 300 million people suffer from a rare disease, representing about 5% of the world’s population.

In Colombia, according to the National Institute of Health, as of April 2024, 84,175 people have been diagnosed with rare diseases—a number comparable to the total capacity of the Santiago Bernabéu Stadium. However, the real figure may be higher, as many people remain undiagnosed, reinforcing the urgent need for improved early detection and access to treatment.

To provide further insight, Dr. Ignacio Zarante, geneticist and president of the Colombian Association of Genetic Physicians (ACMGen), explains these diseases to Al Día News.

News: What Are Ultra-Rare Diseases?

Dr. Zarante:
Rare diseases affect fewer than five people per 10,000 inhabitants. Within this group, some are even rarer and can be potentially life-threatening if not diagnosed in time—these are known as ultra-rare diseases.

"Early diagnosis can completely change the life story of patients with ultra-rare diseases. However, lack of awareness remains a major barrier. It is essential to educate society and the medical community and facilitate access to diagnostic tests."

News: What Are Some Examples of Ultra-Rare Diseases?

Dr. Zarante:
Some of the most notable ultra-rare diseases include:

✔ Paroxysmal Nocturnal Hemoglobinuria (PNH):
A blood disorder that destroys red blood cells, potentially leading to severe anemia, thrombosis, and life-threatening complications. Due to its rarity, it is often misdiagnosed as other hematological disorders, delaying access to proper treatment. In Colombia, around 400 patients have been identified with this condition.

✔ Atypical Hemolytic Uremic Syndrome (aHUS):
A disease affecting small blood vessels, leading to organ damage such as kidney failure. Symptoms include extreme fatigue, swelling, vomiting, and difficulty breathing. In Colombia, 292 diagnosed cases have been reported across 27 departments.

✔ Hypophosphatasia (HPP):
A metabolic disorder that weakens bones and can manifest from childhood with bone deformities and respiratory problems. Due to its low prevalence, it is often misdiagnosed as osteoporosis, leading to inadequate treatments.

✔ Lysosomal Acid Lipase Deficiency (LAL-D):
A genetic disorder caused by a deficiency in the enzyme lysosomal acid lipase, which is needed to break down lipids in cells. This results in lipid buildup in organs like the liver and spleen, causing enlarged liver (hepatomegaly), fatty liver disease, and cholesterol imbalances. Without treatment, it can lead to severe complications and potentially fatal outcomes.

News: Why Is Early Diagnosis Important?

Dr. Zarante:

Early Diagnosis Is the Key to Changing Lives

The biggest challenge of these diseases is that their symptoms can be mistaken for more common conditions, leading to delayed diagnosis. Having advanced detection tools and greater medical knowledge is crucial to improving patient outcomes.

"It is essential to continue promoting research, early detection, and healthcare innovation so that patients receive the care they need. When these diseases are suspected, it is crucial to consult a specialist as soon as possible.Geneticists, hematologists, nephrologists, and internists are here to help," emphasizes Dr. Zarante.

"Let the 'rare' thing be not knowing about them"—an initiative launched by AstraZeneca's new Rare Disease Unit—aims to raise awareness about these conditions to facilitate earlier recognition. This campaign calls for increased awareness to promote timely diagnosis, ultimately improving patients' quality of life and giving them a new horizon of possibilities.