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2 years ago

TM10-S2-2 Marianne Stef.pdf

TM10-S2-2 Marianne Stef.pdf

FAMILIAL

FAMILIAL HYPERCHOLESTEROLEMIASymptoms / Phenotype:- High level of circulating cholesterol- Xanthomas and cholesterol deposits- Most frequent genetic cause of premature cardiovascular diseaseAutosomal dominant diseaseFrequency of 1 in 500:- Estimated 10 million affected worldwide (WHO) and 120,000 in the UK- Under diagnosed and only 25% effectively treated (statins)Suitable Diagnosis?- Clinical diagnosis: Mild phenotypes at young age go unnoticed anddifferential diagnosis from other disorders is difficult- Genetic diagnosis: provides unequivocal diagnosis

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