Spain's endocrinologists want cascade screening for familial hypercholesterolaemia. Testing close relatives can uncover silent cases early and prevent years of exposure to dangerously high cholesterol.
When a child is diagnosed with familial hypercholesterolaemia, the finding can lead to checks across the family. The Spanish Society of Endocrinology and Nutrition (SEEN) is calling for cascade screening of first-degree relatives. The aim is to find undiagnosed cases before years of high cholesterol damage the arteries. Parents, siblings and children may need timely diagnosis and treatment.
The condition affects approximately one in 250 people. It is one of the most common genetic diseases. Its danger is easy to miss because high cholesterol causes no symptoms, even as cardiovascular disease can develop early.
Estimates cited by Spanish family-hypercholesterolaemia specialists suggest that the country may have around 200,000 people with the condition, including approximately 30,000 children.
That silence is why finding the condition in childhood matters.
SEEN says primary care must have a central role through both paediatric and adult services. Pedro Mata, president of the Fundación Hipercolesterolemia Familiar (FHF), says primary care also needs to work with a reference hospital unit. Specialists can then advise on cases and confirm diagnoses through genetic testing. The FHF has also said that earlier identification could help testing spread through the family.
The process is simple. Once one person receives an HF diagnosis, doctors can assess close relatives and find other carriers who might otherwise go untreated. Ana González, from SEEN's lipid and cardiovascular risk group, says the main challenge is making sure that no child with the condition goes unnoticed for years. Reports on the SEEN position describe cascade screening as a way to reach relatives before premature cardiovascular complications develop.
Spanish recommendations cited in reporting on childhood diagnosis consider measuring lipoprotein(a), or Lp(a), from around age five as an additional assessment in children suspected of having familial hypercholesterolaemia. This does not replace LDL cholesterol testing or clinical and family-history assessment.
High LDL cholesterol is often blamed on diet or lifestyle. With familial hypercholesterolaemia, the cause is genetic. LDL levels can be high from a very young age. That misunderstanding leads to missed diagnoses and can delay treatment until adulthood. By then, some patients have spent decades exposed to excess cholesterol. A related screening report also examined the possibility of identifying the condition at birth.
Doctors may suspect HF when LDL cholesterol is high and a family history includes hypercholesterolaemia or premature cardiovascular disease. Warning signs in relatives can include a heart attack or stroke before age 55 in a man or before age 60 in a woman. After very long exposure, physical signs such as xanthomas, cholesterol deposits in tendons and the corneal arc may appear.
These signs cannot replace regular screening. Many people are diagnosed only in adulthood, sometimes after a cardiovascular complication. SEEN therefore supports a universal, organised childhood programme. It could measure LDL cholesterol at selected stages of childhood or use neonatal screening tests. The FHF has separately called for familial hypercholesterolaemia to be considered for inclusion in newborn heel-prick screening. Positive findings could then provide a starting point for testing the wider family.
Once the condition is diagnosed, treatment can control high cholesterol and lower the risk of premature cardiovascular disease. The case for cascade screening is practical. One confirmed diagnosis can open a path to care for parents, siblings and children who may have no symptoms. SEEN's position rests on a clear problem: treatment exists, but families can lose years before they learn that they are at risk.
