Homozygous Familial Hypercholesterolemia in Canada

Figures

• 

  Figure 1. Search Strategy of the Canadian HoFH Registry The homozygous familial hypercholesterolemia registry used an observational study design and was conducted within the framework of the National FH Canada Registry.11,14 A total of 78 patients with homozygous familial hypercholesterolemia was expected. Patients were excluded based on preliminary assessments of their diagnosis. The inclusion of additional patients not captured in the original survey is also shown. Data were collected on 48 patients. HoFH = homozygous familial hypercholesterolemia.

• 

  Central Illustration. Main Findings From the Canadian HoFH Registry Summary of results from the Canadian registry on homozygous familial hypercholesterolemia patients, conducted within the framework of the National FH Canada Registry11,14(top). The histogram shows the age (median) at first occurrence of various adverse cardiovascular events. Data are presented as n (%) or median (IQR). AVR = aortic valve replacement; CABG = coronary artery bypass grafting; LDL = low-density lipoprotein; LDL-C = low-density lipoprotein cholesterol; MI = myocardial infarction; PAD = peripheral artery disease; PCI = percutaneous coronary intervention.

• 

  Figure 2. Histogram of Highest Observed LDL-C vs Lowest LDL-C Level Achieved for Individual Patients With Available Data The figure compares the highest low-density lipoprotein cholesterol level to the lowest low-density lipoprotein cholesterol lever ever achieved in each individual patient with available data, and shows that with aggressive multimodal treatment, patients with homozygous familial hypercholesterolemia can reach very low levels of low-density lipoprotein cholesterol. Levels of low-density lipoprotein cholesterol are in mmol/L; please multiply by 38.67 for mg/dL. ∗Patient 4 underwent a liver transplantation and the highest low-density lipoprotein cholesterol on record was 7.97 mmol/L at age 31 years. ∗∗The highest low-density lipoprotein cholesterol recorded for patient 42 was 8.40 mmol/L at 2 years and 8.67 mmol/L at 7 years. LDL-C = low-density lipoprotein cholesterol.

• 

  Figure 3. Survival Age of HoFH Registry Patients The figure illustrates the actual age of the individual patients (yellow arrow), including age of death (dark blue square) when appropriate. Individual patient genotype is shown on each line. APOB = apolipoprotein B; Comp = compound; def = defective; HeFH = heterozygous familial hypercholesterolemia; HoFH = homozygous familial hypercholesterolemia; Ukn = unknown.

• 

  Figure 4. Time to First and Subsequent MACE and MACE Plus Events A myocardial infarction event is indicated by a yellow triangle, a percutaneous coronary intervention or coronary artery bypass grafting event is indicated by a green circle, an aortic valve replacement is indicated as a blue diamond, present age of individual patients is indicated by a yellow arrow and death is shown as a black square. (A) Homozygous familial hypercholesterolemia mutation severity according to low-density lipoprotein cholesterol phenotype. Adapted from Santos et al 2016.31 Patients in the latter figures are separated according to the molecular basis of homozygous familial hypercholesterolemia, as described: (B) clinical course of patients homozygous for low-density lipoprotein receptor null mutations (Category 1, A); (C) clinical course of patients compound heterozygous for low-density lipoprotein receptor null mutations and low-density lipoprotein receptor defective mutations (Category 2, A); (D) clinical course of patients homozygous for low-density lipoprotein receptor defective mutations (Category 3, A); (E) clinical course of double heterozygous patients (Category 5, A); (F) clinical course of patients…