The underlying molecular defect of FH consists of mutations in the gene coding for the LDL-receptor protein, detection of which provides the only unequivocal diagnosis. ~ Aalst-Cohen, et al.
The importance of establishing the identity of a causative mutation in an index case lies in the certainty that it provides an unequivocal diagnosis in that family, thereby permitting the identification of affected family members at a much younger age and optimizing the health benefit accruing from initiation of treatment as early as possible. ~ Liyanage, et al.
A molecular diagnosis, i.e. demonstration of a pathogenic mutation in the LDL receptor gene, therefore establishes an unequivocal diagnosis. ~ Fouchier, et al.
The gold standard of diagnosis is the identification of the underlying genetic defect, which is possible in 80% of cases and enables the identification of affected relatives of the index patient. ~ Klose, et al.
That was before. In the bottom right, we observe Jane Stock — a for-hire Medical Writing Consultant who worked on many EAS projects, including the 2013 and 2014 EAS reports. On linkedin.com her job description reads, “All aspects of writing; working with KOLs on peer-review manuscripts and advisory and boards, and strategic publication planning are specialties.” This advertisement is for services greater than just technical writing.
 Diagnosing familial hypercholesterolaemia: the relevance of genetic testing, Emily S. van Aalst-Cohen, et al.
 Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution, Khemanganee E. Liyanage, et al
 The molecular basis of familial hypercholesterolemia in The Netherlands, Sigrid W. Fouchier, et al.
 Familial Hypercholesterolemia: Developments in Diagnosis and Treatment, Gerald Klose, et al.