Table of Content

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 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 Treatment
10.1 Lifestyle Modifications
10.2 Pharmacologic Treatment
10.2.1 Statins
10.2.2 Cholesterol Absorption Inhibitors
10.2.3 Bile Acid Sequestrants
10.2.4 Juxtapid (Lomitapide)
10.2.5 PCSK9 Inhibitors
10.3 Lipoprotein Apheresis
10.4 Liver Transplantation

11 Treatment guidelines for Familial Hypercholesterolemia by the American Heart Association (AHA)

12 Treatment guidelines by the National Institute for Health and Care Excellence (NICE)
12.1 Management of FH

13 Treatment guidelines for Familial Hypercholestrolemia by the Japan Atherosclerosis Society and the Asian Pacific Society of Atherosclerosis and Vascular Diseases

14 Unmet Needs

15 Marketed Drugs
15.1 Key Competitiors
15.2 Praluent (alirocumab): Sanofi/ Regeneron Pharmaceuticals
15.2.1 Drug Description
15.2.2 Regulatory Milestones
15.2.3 Other Development Activities
15.2.4 Current Pipeline Activity
15.2.5 Safety and Efficacy
15.2.6 Product Profile
15.3 Repatha (evolocumab): Amgen
15.3.1 Drug Description
15.3.2 Regulatory Milestones
15.3.3 Other Development Activities
15.3.4 Current Pipeline Activity
15.3.5 Safety and Efficacy
15.3.6 Product Profile
15.4 Nustendi/ Nexlizet (bempedoic acid/ ezetimibe): Esperion Therapeutics
15.4.1 Drug Description
15.4.2 Regulatory Milestones
15.4.3 Other Development Activities
15.4.4 Safety and Efficacy
15.4.5 Product Profile
15.5 Juxtapid (Lomitapide): Aegerion Pharmaceutical
15.5.1 Drug Description
15.5.2 Regulatory Milestones
15.5.3 Other Development Activities
15.5.4 Current Pipeline Activity
15.5.5 Safety and Efficacy
15.5.6 Product Profile
15.6 Nexletol (bempedoic acid/ Nilemdo): Esperion Therapeutics
15.6.1 Drug Description
15.6.2 Regulatory Milestones
15.6.3 Other Developmental Activities
15.6.4 Safety and Efficacy
15.6.5 Product Profile

16 Emerging Drugs
16.1 Key Competitors
16.2 Evinacumab (REGN1500): Regeneron Pharmaceuticals
16.2.1 Drug Description
16.2.2 Other Development Activities
16.2.3 Clinical Development
16.2.4 Safety and Efficacy
16.2.5 Product Profile
16.3 Inclisiran (ALN-PCSSC): Novartis
16.3.1 Drug Description
16.3.2 Other Development Activities
16.3.3 Clinical Development
16.3.4 Clinical Trials Information
16.3.5 Safety and Efficacy
16.3.6 Product Profile
16.4 LIB003: LIB Therapeutics
16.4.1 Drug Description
16.4.2 Clinical Development
16.4.3 Safety and Efficacy
16.4.4 Product Profile
16.5 Gemcabene: NeuroBo Pharmaceuticals
16.5.1 Product Description
16.5.2 Other Developmental Activities
16.5.3 Clinical Development
16.5.4 Safety and Efficacy
16.5.5 Product Profile
16.6 ARO-ANG3: Arrowhead Pharmaceuticals
16.6.1 Product Description
16.6.2 Other Developmental Activities
16.6.3 Clinical Development
16.6.4 Safety and Efficacy
16.6.5 Product Profile
17 Familial Hypercholesterolemia (FH): Seven Major Market Analysis
17.1 Key Findings
17.2 Market Size of Familial Hypercholesterolemia (FH) in the 7MM
17.3 7MM Market Outlook
17.4 United States Market Size
17.4.1 Total Market size of Familial Hypercholesterolemia
17.4.2 Market Size by Current Therapies
17.4.3 Market Size by Emerging Therapies
17.5 Germany Market Size
17.5.1 Total Market size of Familial Hypercholesterolemia
17.5.2 Market Size by Current Therapies
17.5.3 Market Size by Emerging Therapies
17.6 France Market Size
17.6.1 Total Market size of Familial Hypercholesterolemia
17.6.2 Market Size by Current Therapies
17.6.3 Market Size by Emerging Therapies
17.7 Italy Market Size
17.7.1 Total Market size of Familial Hypercholesterolemia
17.7.2 Market Size by Current Therapies
17.7.3 Market Size by Emerging Therapies
17.8 Spain Market Size
17.8.1 Total Market size of Familial Hypercholesterolemia
17.8.2 Market Size by Current Therapies
17.8.3 Market Size by Emerging Therapies
17.9 United Kingdom Market Size
17.9.1 Total Market size of Familial Hypercholesterolemia
17.9.2 Market Size by Current Therapies
17.9.3 Market Size by Emerging Therapies
17.1 Japan market Size
17.10.1 Total Market size of Familial Hypercholesterolemia
17.10.2 Market Size by Current Therapies
17.10.3 Market Size by Emerging Therapies
18 Case Reports
19 Market Drivers
20 Market Barriers
21 Market Access and Reimbursement
22 SWOT Analysis
23 Appendix
23.1 Bibliography
24 Report Methodology

25 DelveInsight Capabilities

26 Disclaimer

27 About DelveInsight



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)
Figure 35: Treatment algorithm for FH patients
Figure 36: Treatment algorithm for adult (15 years or over) heterozygous FH patients
Figure 37: Treatment algorithm for adult (15 years or over) homozygous FH patients
Figure 38: Seven Major Market Size of FH, in USD Million (2017–2030)
Figure 39: Total Market Size of FH in the United States, in USD Millions (2017–2030)
Figure 40: Market size of FH by current therapies in the United States, in USD Million (2017–2030)
Figure 41: Market size of FH by emerging therapies in the United States, in USD Million (2017–2030)
Figure 42: Total Market Size of FH in Germany, in USD Millions (2017–2030)
Figure 43: Market size of FH by current therapies in Germany, in USD Million (2017–2030)
Figure 44: Market size of FH by emerging therapies in Germany, in USD Million (2017–2030)
Figure 45: Total Market Size of FH in France, in USD Millions (2017–2030)
Figure 46: Market size of FH by current therapies in France, in USD Million (2017–2030)
Figure 47: Market size of FH by emerging therapies in France, in USD Million (2017–2030)
Figure 48: Total Market Size of FH in Italy, in USD Millions (2017–2030)
Figure 49: Market size of FH by current therapies in Italy, in USD Million (2017–2030)
Figure 50: Market size of FH by emerging therapies in Italy, in USD Million (2017–2030)
Figure 51: Total Market Size of FH in Spain, in USD Millions (2017–2030)
Figure 52: Market size of FH by current therapies in Spain, in USD Million (2017–2030)
Figure 53: Market size of FH by emerging therapies in Spain, in USD Million (2017–2030)
Figure 54: Total Market Size of FH in the UK, in USD Millions (2017–2030)
Figure 55: Market size of FH by current therapies in the UK, in USD Million (2017–2030)
Figure 56: Market size of FH by emerging therapies in the UK, in USD Million (2017–2030)
Figure 57: Total Market Size of FH in Japan, in USD Million (2017–2030)
Figure 58: Market size of FH by current therapies in Japan, in USD Million (2017–2030)
Figure 59: Market size of FH by emerging therapies in Japan, in USD Million (2017–2030)
Figure 60: Market Drivers
Figure 61: Market Barriers
Figure 62: SWOT Analysis of Familial Hypercholesterolemia


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)
Table 38: Comparison of Marketed Drugs
Table 39: Praluent, Clinical Trial Description, 2020
Table 40: Repatha (Evolocumab/AMG 145), Clinical Trial Description, 2020
Table 41: Juxtapid (Lomitapide), Clinical Trial Description, 2020
Table 42: Comparison of emerging drugs under development
Table 43: Evinacumab (REGN1500), Clinical Trial Description;2020
Table 44: Inclisiran, Clinical Trial Description, 2020
Table 45: LIB003, Clinical Trial Description, 2020
Table 46: Gemcabene, Clinical Trial Description, 2020
Table 47: ARO-ANG3, Clinical Trial Description
Table 48: Seven Major Market Size of FH, in USD Million (2017–2030)
Table 49: Launch dates of potential emerging drugs
Table 50: Total Market Size of FH in the United States, in USD Million (2017–2030)
Table 51: Market size of FH by current therapies in the United States, in USD Million (2017–2030)
Table 52: Market size of FH by emerging therapies in the United States, in USD Million (2017–2030)
Table 53: Total Market Size of FH in Germany, in USD Million (2017–2030)
Table 54: Market size of FH by current therapies in Germany, in USD Million (2017–2030)
Table 55: Market size of FH by emerging therapies in Germany, in USD Million (2017–2030)
Table 56: Total Market Size of FH in France, in USD Million (2017–2030)
Table 57: Market size of FH by current therapies in France, in USD Million (2017–2030)
Table 58: Market size of FH by emerging therapies in France, in USD Million (2017–2030)
Table 59: Total Market Size of FH in Italy, in USD Million (2017–2030)
Table 60: Market size of FH by current therapies in Italy, in USD Million (2017–2030)
Table 61: Market size of FH by emerging therapies in Italy, in USD Million (2017–2030)
Table 62: Total Market Size of FH in Spain, in USD Million (2017–2030)
Table 63: Market size of FH by current therapies in Spain, in USD Million (2017–2030)
Table 64: Market size of FH by emerging therapies in Spain, in USD Million (2017–2030)
Table 65: Total Market Size of FH in the United Kingdom, in USD Million (2017–2030)
Table 66: Market size of FH by current therapies in the United Kingdom, in USD Million (2017–2030)
Table 67: Market size of FH by emerging therapies in the United Kingdom, in USD Million (2017–2030)
Table 68: Total Market Size of FH in Japan, in USD Million (2017–2030)
Table 69: Market size of FH by current therapies in Japan, in USD Million (2017–2030)
Table 70: Market size of FH by emerging therapies in Japan, in USD Million (2017–2030)
Table 71: Parameters for Government Funding for FH Care, Research, Regulation of Payer Structure, and Support for Education