1 Key Insights

2 Familial Hypercholesterolemia Market Overview at a Glance

2.1 Market Share (%) Distribution of Familial Hypercholesterolemia in 2017
2.2 Market Share (%) Distribution of Familial Hypercholesterolemia in 2030

3 Disease Background and Overview: Familial Hypercholesterolemia (FH)

3.1 Introduction
3.2 Types of Familial Hypercholesterolemia
3.2.1 Homozygous Familial Hypercholesterolemia (HoFH)
3.2.2 Heterozygous FH Familial Hypercholesterolemia (HeFH)
3.3 FH Causative Genes
3.3.1 LDL Receptor
3.3.2 Apo B-100
3.3.3 PCSK9
3.3.4 LDL Receptor Adapter Protein 1 (LDLRAP1)
3.4 Symptoms
3.5 Clinical Features of FH
3.5.1 Hyper-LDL-Cholesterolemia
3.5.2 Premature Coronary Artery Disease
3.5.3 Tendon and Skin Xanthomas
3.5.4 Corneal Arcus
3.5.5 Other Risk Factors in FH
3.6 Diagnosis
3.6.1 Detection of FH through Genetic Screening
3.6.2 Detection of FH through Cascade Screening
3.6.3 Achilles tendon radiography
3.6.4 Diagnosis of Pediatric FH
3.6.5 Establishing the Diagnosis
3.7 Differential diagnosis

4 Diagnostic guidelines for Familial Hypercholesterolemia by the American Heart Association (AHA)

5 Diagnostic guidelines for Familial Hypercholesterolemia by the National Institute for Health and Care Excellence (NICE)

6 Recognized Establishments

6.1 United States
6.2 Europe
6.3 Japan

7 Epidemiology and Patient Population: Key Findings

7.1 7MM Total Prevalent Population of Familial Hypercholesterolemia
7.2 7MM Total Diagnosed Prevalent Population of Familial Hypercholesterolemia

8 Country Wise-Epidemiology of Familial Hypercholesterolemia (FH)

8.1 United States
8.1.1 Assumptions and Rationale
8.1.2 Prevalent Population of Familial Hypercholesterolemia in the United States
8.1.3 Diagnosed Prevalent Population of Familial Hypercholesterolemia in the United States
8.1.4 Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in the United States
8.1.5 Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in the United States
8.2 EU5 Countries
8.3 Germany
8.3.1 Assumptions and Rationale
8.3.2 Prevalent Population of Familial Hypercholesterolemia in Germany
8.3.3 Diagnosed Prevalent Population of Familial Hypercholesterolemia in Germany
8.3.4 Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Germany
8.3.5 Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Germany
8.4 France
8.4.1 Assumptions and Rationale
8.4.2 Prevalent Population of Familial Hypercholesterolemia in France
8.4.3 Diagnosed Prevalent Population of Familial Hypercholesterolemia in France
8.4.4 Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in France
8.4.5 Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in France
8.5 Italy
8.5.1 Assumptions and Rationale
8.5.2 Prevalent Population of Familial Hypercholesterolemia in Italy
8.5.3 Diagnosed Prevalent Population of Familial Hypercholesterolemia in Italy
8.5.4 Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Italy
8.5.5 Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Italy
8.6 Spain
8.6.1 Assumptions and Rationale
8.6.2 Prevalent Population of Familial Hypercholesterolemia in Spain
8.6.3 Diagnosed Prevalent Population of Familial Hypercholesterolemia in Spain
8.6.4 Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Spain
8.6.5 Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Spain
8.7 United Kingdom
8.7.1 Assumptions and Rationale
8.7.2 Prevalent Population of Familial Hypercholesterolemia in the United Kingdom
8.7.3 Diagnosed Prevalent Population of Familial Hypercholesterolemia in the United Kingdom
8.7.4 Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in the United Kingdom
8.7.5 Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in the United Kingdom
8.8 Japan
8.8.1 Assumptions and Rationale
8.8.2 Prevalent Population of Familial Hypercholesterolemia in Japan
8.8.3 Diagnosed Prevalent Population of Familial Hypercholesterolemia in Japan
8.8.4 Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Japan
8.8.5 Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Japan

9 Appendix

9.1 Bibliography
9.2 Report Methodology

10 DelveInsight Capabilities

11 Disclaimer

12 About DelveInsight

List of Tables
Table 1: Diagnostic criteria for FH in Adults (15 years of age or older)
Table 2: Molecular Genetic Testing Used in Familial Hypercholesterolemia (FH)
Table 3: Pediatric FH diagnostic criteria
Table 4: Simon Broome Diagnostic Criteria for FH
Table 5: Make Early Diagnosis to Prevent Early Deaths (MEDPED) diagnostic criteria for Heterozygous Familial Hypercholesterolemia (FH)
Table 6: The Dutch Lipid Clinics Network Criteria Score (DLCNS)
Table 7: Total Prevalent Population of Familial Hypercholesterolemia in the 7MM (2017–2030)
Table 8: Total Diagnosed Prevalent Population of Familial Hypercholesterolemia in the 7MM (2017–2030)
Table 9: Prevalent Population of Homozygous Familial Hypercholesterolemia in the United States (2017–2030)
Table 10: Prevalent Population of Heterozygous Familial Hypercholesterolemia in the United States (2017–2030)
Table 11: Diagnosed Prevalent Population of Familial Hypercholesterolemia in the United States (2017–2030)
Table 12: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in the United States (2017–2030)
Table 13: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in the United States (2017–2030)
Table 14: Prevalent Population of Homozygous Familial Hypercholesterolemia in Germany (2017–2030)
Table 15: Prevalent Population of Heterozygous Familial Hypercholesterolemia in Germany (2017–2030)
Table 16: Diagnosed Prevalent Population of Familial Hypercholesterolemia in Germany (2017–2030)
Table 17: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Germany (2017–2030)
Table 18: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Germany (2017–2030)
Table 19: Prevalent Population of Homozygous Familial Hypercholesterolemia in France (2017–2030)
Table 20: Prevalent Population of Heterozygous Familial Hypercholesterolemia in France (2017–2030)
Table 21: Diagnosed Prevalent Population of Familial Hypercholesterolemia in France (2017–2030)
Table 22: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in France (2017–2030)
Table 23: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in France (2017–2030)
Table 24: Prevalent Population of Homozygous Familial Hypercholesterolemia in Italy (2017–2030)
Table 25: Prevalent Population of Heterozygous Familial Hypercholesterolemia in Italy (2017–2030)
Table 26: Diagnosed Prevalent Population of Familial Hypercholesterolemia in Italy (2017–2030)
Table 27: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Italy (2017–2030)
Table 28: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Italy (2017–2030)
Table 29: Prevalent Population of Homozygous Familial Hypercholesterolemia in Spain (2017–2030)
Table 30: Prevalent Population of Heterozygous Familial Hypercholesterolemia in Spain (2017–2030)
Table 31: Diagnosed Prevalent Population of Familial Hypercholesterolemia in Spain (2017–2030)
Table 32: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Spain (2017–2030)
Table 33: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Spain (2017–2030)
Table 34: Prevalent Population of Homozygous Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Table 35: Prevalent Population of Heterozygous Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Table 36: Diagnosed Prevalent Population of Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Table 37: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Table 38: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Table 39: Prevalent Population of Homozygous Familial Hypercholesterolemia in Japan (2017–2030)
Table 40: Prevalent Population of Heterozygous Familial Hypercholesterolemia in Japan (2017–2030)
Table 41: Diagnosed Prevalent Population of Familial Hypercholesterolemia in Japan (2017–2030)
Table 42: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Japan (2017–2030)
Table 43: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Japan (2017–2030)

List of Figures
Figure 1: A typical diagram showing FH artery of FH patient
Figure 2: Combination of genetic mutation showing a clinical phenotype of FH homozygote.
Figure 3: Corneal arcus in FH patients
Figure 4: Diagnostic considerations by the American Heart Association
Figure 5: Total Prevalent Population of Familial Hypercholesterolemia in the 7MM (2017–2030)
Figure 6: Total Diagnosed Prevalent Population of Familial Hypercholesterolemia in the 7MM (2017–2030)
Figure 7: Prevalent Population of Homozygous Familial Hypercholesterolemia in the United States (2017–2030)
Figure 8: Prevalent Population of Heterozygous Familial Hypercholesterolemia in the United States (2017–2030)
Figure 9: Diagnosed Prevalent Population of Familial Hypercholesterolemia in the United States (2017–2030)
Figure 10: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in the United States (2017–2030)
Figure 11: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in the United States (2017–2030)
Figure 12: Prevalent Population of Homozygous Familial Hypercholesterolemia in Germany (2017–2030)
Figure 13: Prevalent Population of Heterozygous Familial Hypercholesterolemia in Germany (2017–2030)
Figure 14: Diagnosed Prevalent Population of Familial Hypercholesterolemia in Germany (2017–2030)
Figure 15: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Germany (2017–2030)
Figure 16: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Germany (2017–2030)
Figure 17: Prevalent Population of Homozygous Familial Hypercholesterolemia in France (2017–2030)
Figure 18: Prevalent Population of Heterozygous Familial Hypercholesterolemia in France (2017–2030)
Figure 19: Diagnosed Prevalent Population of Familial Hypercholesterolemia in France (2017–2030)
Figure 20: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in France (2017–2030)
Figure 21: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in France (2017–2030)
Figure 22: Prevalent Population of Homozygous Familial Hypercholesterolemia in Italy (2017–2030)
Figure 23: Prevalent Population of Heterozygous Familial Hypercholesterolemia in Italy (2017–2030)
Figure 24: Diagnosed Prevalent Population of Familial Hypercholesterolemia in Italy (2017–2030)
Figure 25: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Italy (2017–2030)
Figure 26: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Italy (2017–2030)
Figure 27: Prevalent Population of Homozygous Familial Hypercholesterolemia in Spain (2017–2030)
Figure 28: Prevalent Population of Heterozygous Familial Hypercholesterolemia in Spain (2017–2030)
Figure 29: Diagnosed Prevalent Population of Familial Hypercholesterolemia in Spain (2017–2030)
Figure 30: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Spain (2017–2030)
Figure 31: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Spain (2017–2030)
Figure 32: Prevalent Population of Homozygous Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Figure 33: Prevalent Population of Heterozygous Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Figure 34: Diagnosed Prevalent Population of Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Figure 35: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Figure 36: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in the United Kingdom (2017–2030)
Figure 37: Prevalent Population of Homozygous Familial Hypercholesterolemia in Japan (2017–2030)
Figure 38: Prevalent Population of Heterozygous Familial Hypercholesterolemia in Japan (2017–2030)
Figure 39: Diagnosed Prevalent Population of Familial Hypercholesterolemia in Japan (2017–2030)
Figure 40: Mutation-specific Diagnosed Prevalence of Familial Hypercholesterolemia in Japan (2017–2030)
Figure 41: Diagnosed Prevalence of Coronary Heart Disease due to Familial Hypercholesterolemia in Japan (2017–2030)