A new unit has opened at the Vall d’Hebron medical complex in Barcelona, becoming the first place in Spain where adults with unusual genetic disorders can now receive an accurate diagnosis and tailored treatment. The focus is on telomere disorders—tiny segments at the ends of chromosomes that protect genetic material from damage. Until recently, these problems were thought to affect only children, but doctors are now encountering them increasingly in adults.
As people age, telomeres naturally become shorter, which is associated with aging. However, for some, this process occurs too quickly, leading to malfunctions in the body. Such patients can develop severe diseases, from pulmonary fibrosis to bone marrow disorders and even cancer. Until recently, doctors couldn’t link these varied symptoms, but it is now understood that for some patients, the cause lies in genetics—in telomere defects.
Previously, adults with such disorders were referred to various specialists: hematologists, pulmonologists, general practitioners. Each addressed their own symptom, but no one saw the bigger picture. The new approach at Vall d’Hebron enables doctors to work together and manage patients comprehensively, taking into account all aspects of their condition. The team includes experts in hereditary blood diseases, molecular hematologists, and geneticists, who have long been dealing with rare forms of blood cancer.
By observing patients with hereditary oncological conditions, doctors noticed that many of them share similar genetic changes related to telomeres. This discovery led to the creation of a specialized service where not only patients are examined, but also their relatives—even if they have no symptoms yet, but may be at risk of inheriting the mutation.
Diagnosis often begins with a simple blood test, when anemia or other irregularities are unexpectedly detected in a person for no apparent reason. Doctors also pay attention to external signs: early graying and brittle nails, which usually do not raise concern, can turn out to be important clues. Next, specialists study the family history and look for recurring patterns.
For many, receiving a diagnosis is a real relief, since previously they spent years not knowing what was happening with their health. However, answers also bring new questions: can the disease be passed on to children, what are the risks for other family members. Doctors emphasize that having a genetic mutation is not a sentence, but rather an increased probability of developing certain diseases. The body is capable of compensating for many malfunctions, and not all carriers show symptoms.
The opening of the new service at Vall d’Hebron is transforming not only the approach to treatment but also public attitudes toward genetic knowledge. Patients note that they can now rely on personalized monitoring and prompt response to any changes in their condition. For many, this has been a real breakthrough: they now know where to turn and what steps to take if similar issues arise in their families.
