1 Key Insights

2 Familial Hypercholesterolemia Market Overview at a Glance

3 Executive Summary

4 Disease Background and Overview: Familial Hypercholesterolemia (FH)

4.1 Introduction
4.2 Types of Familial Hypercholesterolemia
4.2.1 Homozygous Familial Hypercholesterolemia (HoFH)
4.2.2 Heterozygous Familial Hypercholesterolemia (HeFH)
4.3 FH Causative Genes
4.3.1 LDL Receptor
4.3.2 Apo B-100
4.3.3 PCSK9
4.3.4 LDL Receptor Adapter Protein 1 (LDLRAP1)
4.4 Symptoms
4.5 Clinical Features of FH
4.5.1 Hyper-LDL-Cholesterolemia
4.5.2 Premature Coronary Artery Disease
4.5.3 Tendon and Skin Xanthomas
4.5.4 Corneal Arcus
4.5.5 Other Risk Factors in FH
4.6 Diagnosis
4.6.1 Detection of FH through Genetic Screening
4.6.2 Detection of FH through Cascade Screening
4.6.3 Achilles tendon radiography
4.6.4 Diagnosis of Pediatric FH
4.6.5 Establishing the Diagnosis
4.7 Differential diagnosis

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

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

7 Recognized Establishments

7.1 United States
7.2 Europe
7.3 Japan

8 Epidemiology and Patient Population

8.1 Key Findings
8.2 7MM Prevalent Population of Familial Hypercholesterolemia
8.3 7MM Diagnosed Prevalent Population of Familial Hypercholesterolemia

9 Country-wise Epidemiology of Familial Hypercholesterolemia (FH)

9.1 United States
9.1.1 Assumptions and Rationale
9.1.2 Prevalence of Familial Hypercholesterolemia in the United States
9.1.3 Diagnosed Prevalence of Familial Hypercholesterolemia in the United States
9.1.4 Age-specific Distribution of Familial Hypercholesterolemia in the United States
9.1.5 Mutation-specific Distribution of Familial Hypercholesterolemia in the United States
9.2 EU5 Countries
9.3 Germany
9.3.1 Assumptions and Rationale
9.3.2 Prevalence of Familial Hypercholesterolemia in Germany
9.3.3 Diagnosed Prevalence of Familial Hypercholesterolemia in Germany
9.3.4 Age-specific Distribution of Familial Hypercholesterolemia in Germany
9.3.5 Mutation-specific Distribution of Familial Hypercholesterolemia in Germany
9.4 France
9.4.1 Assumptions and Rationale
9.4.2 Prevalence of Familial Hypercholesterolemia in France
9.4.3 Diagnosed Prevalence of Familial Hypercholesterolemia in France
9.4.4 Age-specific Distribution of Familial Hypercholesterolemia in France
9.4.5 Mutation-specific Distribution of Familial Hypercholesterolemia in France
9.5 Italy
9.5.1 Assumptions and Rationale
9.5.2 Prevalence of Familial Hypercholesterolemia in Italy
9.5.3 Diagnosed Prevalence of Familial Hypercholesterolemia in Italy
9.5.4 Age-specific Distribution of Familial Hypercholesterolemia in Italy
9.5.5 Mutation-specific Distribution of Familial Hypercholesterolemia in Italy
9.6 Spain
9.6.1 Assumptions and Rationale
9.6.2 Prevalence of Familial Hypercholesterolemia in Spain
9.6.3 Diagnosed Prevalence of Familial Hypercholesterolemia in Spain
9.6.4 Age-specific Distribution of Familial Hypercholesterolemia in Spain
9.6.5 Mutation-specific Distribution of Familial Hypercholesterolemia in Spain
9.7 United Kingdom
9.7.1 Assumptions and Rationale
9.7.2 Prevalence of Familial Hypercholesterolemia in the United Kingdom
9.7.3 Diagnosed Prevalence of Familial Hypercholesterolemia in the United Kingdom
9.7.4 Age-specific Distribution of Familial Hypercholesterolemia in the United Kingdom
9.7.5 Mutation-specific Distribution of Familial Hypercholesterolemia in the United Kingdom
9.8 Japan
9.8.1 Assumptions and Rationale
9.8.2 Prevalence of Familial Hypercholesterolemia in Japan
9.8.3 Diagnosed Prevalence of Familial Hypercholesterolemia in Japan
9.8.4 Age-specific Distribution of Familial Hypercholesterolemia in Japan
9.8.5 Mutation-specific Distribution of Familial Hypercholesterolemia in Japan

10 Appendix

10.1 Bibliography

11 Report Methodology

12 DelveInsight Capabilities

13 Disclaimer

14 About DelveInsight

List of Tables
Table 1: Summary of FH, Market, Epidemiology and Key Events (2017-2030)
Table 2: Diagnostic criteria for FH in Adults (15 years of age or older)
Table 3: Molecular Genetic Testing Used in Familial Hypercholesterolemia (FH)
Table 4: Pediatric FH diagnostic criteria
Table 5: Simon Broome Diagnostic Criteria for FH
Table 6: Make Early Diagnosis to Prevent Early Deaths (MEDPED) diagnostic criteria for HeFH
Table 7: The Dutch Lipid Clinics Network Criteria Score (DLCNS)
Table 8: Prevalent Population of FH in the 7MM (2017-2030)
Table 9: Diagnosed Prevalent Population of FH in the 7MM (2017-2030)
Table 10: Prevalence of FH in the US (2017-2030)
Table 11: Diagnosed Prevalence of FH in the US (2017-2030)
Table 12: Age-specific Distribution of FH in the US (2017-2030)
Table 13: Mutation-specific Distribution of FH in the US (2017-2030)
Table 14: Prevalence of FH in Germany (2017-2030)
Table 15: Diagnosed Prevalence of FH in Germany (2017-2030)
Table 16: Age-specific Distribution of FH in Germany (2017-2030)
Table 17: Mutation-specific Distribution of FH in Germany (2017-2030)
Table 18: Prevalence of FH in France (2017-2030)
Table 19: Diagnosed Prevalence of FH in France (2017-2030)
Table 20: Age-specific Distribution of FH in France (2017-2030)
Table 21: Mutation-specific Distribution of FH in France (2017-2030)
Table 22: Prevalence of FH in Italy (2017-2030)
Table 23: Diagnosed Prevalence of FH in Italy (2017-2030)
Table 24: Age-specific Distribution of FH in Italy (2017-2030)
Table 25: Mutation-specific Distribution of FH in Italy (2017-2030)
Table 26: Prevalence of FH in Spain (2017-2030)
Table 27: Diagnosed Prevalence of FH in Spain (2017-2030)
Table 28: Age-specific Distribution of FH in Spain (2017-2030)
Table 29: Mutation-specific Distribution of FH in Spain (2017-2030)
Table 30: Prevalence of FH in the UK (2017-2030)
Table 31: Diagnosed Prevalence of FH in the UK (2017-2030)
Table 32: Age-specific Distribution of FH in the UK (2017-2030)
Table 33: Mutation-specific Distribution of FH in the UK (2017-2030)
Table 34: Prevalence of FH in Japan (2017-2030)
Table 35: Diagnosed Prevalence of FH in Japan (2017-2030)
Table 36: Age-specific Distribution of FH in Japan (2017-2030)
Table 37: Mutation-specific Distribution of FH 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: Prevalent Population of FH in the 7MM (2017-2030)
Figure 6: Diagnosed Prevalent Population of FH in the 7MM (2017-2030)
Figure 7: Prevalence of FH in the US (2017-2030)
Figure 8: Diagnosed Prevalence of FH in the US (2017-2030)
Figure 9: Age-specific Distribution of FH in the US (2017-2030)
Figure 10: Mutation-specific Distribution of FH in the US (2017-2030)
Figure 11: Prevalence of FH in Germany (2017-2030)
Figure 12: Diagnosed Prevalence of FH in Germany (2017-2030)
Figure 13: Age-specific Distribution of FH in Germany (2017-2030)
Figure 14: Mutation-specific Distribution of FH in Germany (2017-2030)
Figure 15: Prevalence of FH in France (2017-2030)
Figure 16: Diagnosed Prevalence of FH in France (2017-2030)
Figure 17: Age-specific Distribution of FH in France (2017-2030)
Figure 18: Mutation-specific Distribution of FH in France (2017-2030)
Figure 19: Prevalence of FH in Italy (2017-2030)
Figure 20: Diagnosed Prevalence of FH in Italy (2017-2030)
Figure 21: Age-specific Distribution of FH in Italy (2017-2030)
Figure 22: Mutation-specific Distribution of FH in Italy (2017-2030)
Figure 23: Prevalence of FH in Spain (2017-2030)
Figure 24: Diagnosed Prevalence of FH in Spain (2017-2030)
Figure 25: Age-specific Distribution of FH in Spain (2017-2030)
Figure 26: Mutation-specific Distribution of FH in Spain (2017-2030)
Figure 27: Prevalence of FH in the UK (2017-2030)
Figure 28: Diagnosed Prevalence of FH in the UK (2017-2030)
Figure 29: Age-specific Distribution of FH in the UK (2017-2030)
Figure 30: Mutation-specific Distribution of FH in the UK (2017-2030)
Figure 31: Prevalence of FH in Japan (2017-2030)
Figure 32: Diagnosed Prevalence of FH in Japan (2017-2030)
Figure 33: Age-specific Distribution of FH in Japan (2017-2030)
Figure 34: Mutation-specific Distribution of FH in Japan (2017-2030)