What follows are screenshots of the reports which used manipulated data and which are at the center of my analysis. The strategy is to motivate through a sense of urgency with a genetic-based claim of “Underdiagnosis” while continuing to promote clinical DLCN criteria as sufficient and standard practice.
Abul-Husn, et al. 2016
Benn, et al. 2016
Nordestgaard, et al. 2013
Benn, et al. 2012
Aegerion (Novelion) and Clinical Diagnosis(HoFH)
“There are no universally accepted criteria for the diagnosis of HoFH. Diagnosis is typically made clinically ….” ~ Novelion Therapeutics Inc., Dec. 2016 10-K
Translate this into: There is no universally accepted clinical criteria for the diagnosis of HoFH because the results of the disease are too varied. Failing to give genetic testing an adequate place in the debate, the logic ends up something like, “This supermarket scale doesn’t work so we’ll just have to use it.” FH is a genetically inherited disease. How it manifests itself outwardly very often does not look like clinically determined “FH.” Therefore, the definitive means of identifying FH exists. It is just that identification is through genetic identification:
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 LDLreceptor 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.
Genetic testing … “genotyping” is resisted because it is not profitable:
“… genotyping may be required in some countries, reducing the number of patients diagnosed with HoFH.” ~ Novelion Therapeutics Inc., Dec. 2016 10-K
With the preceding quotation, Novelion is clearly telling us that a clinical scoring system outsells a genetic identification procedure. There is no established criteria, and so why use criteria? Answer: Because the default to failed scoring systems is genetic testing, which is less profitable for Big Pharma.
 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.