Barcelona’s Vall d’Hebron Hospital has opened Spain’s first dedicated unit for the diagnosis and treatment of telomeropathies, rare conditions linked to shortened telomeres that can trigger premature ageing and serious illnesses.
Since its launch, the unit has already identified around 30 patients, including symptomatic cases and family members at risk.
🔬 What are telomeropathies?
Telomeres are repetitive DNA regions that protect chromosome ends. When they are unusually short, patients may develop:
- Blood cancers and other haematological conditions.
- Pulmonary diseases such as fibrosis.
- Liver disorders.
- Gynaecological issues, including certain types of papilloma.
Dr Julia Montoro, head of the Haematology Genetic Diagnosis and Counselling Unit, explained that the hospital began searching in 2021 for carriers of mutations that predispose individuals to malignant blood and cardiovascular diseases. By December 2024, Vall d’Hebron had established the Adult Telomere Biology Alteration Unit, dedicated to monitoring affected adults and their families.
In children, the disease tends to progress more aggressively, while in adults symptoms usually appear around the age of 30. The new unit provides personalised monitoring to detect early signs of associated conditions, improving both survival rates and quality of life.
Genetic counsellor Sara Torres Esquius highlighted the importance of testing families, noting that carrying a mutation does not always mean the disease will develop, but early detection is crucial for prevention and reproductive genetic advice.
