1 Key Insights

2 EXECUTIVE SUMMARY

3 HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (HOFH) OVERVIEW AT A GLANCE

3.1 PATIENT SHARE (%) DISTRIBUTION IN 2017
3.2 PATIENT SHARE (%) DISTRIBUTION IN 2030

4 DISEASE BACKGROUND AND OVERVIEW

4.1 INTRODUCTION
4.1 SYMPTOMS OF HOFH
4.2 GENETICS OF HOFH
4.2.1 Genetic heterogeneity translates to phenotypic variability
4.2.2 Metabolic characteristics of HoFH
4.3 DIAGNOSIS OF HOFH

5 RECOGNIZED ESTABLISHMENTS

6 TREATMENT AND MANAGEMENT

6.1.1 Lifestyle Modifications
6.1.2 Medication
6.1.3 LDL Apheresis
6.1.4 Liver Transplantation
6.1.5 Possible future treatments for HoFH
6.1.6 Treatment for Pediatric HoFH

7 HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA: GUIDELINES BY EUROPEAN ATHEROSCLEROSIS SOCIETY (EAS) (2014)

7.1 DIAGNOSIS OF HOFH
7.1.1 Plasma low-density lipoprotein cholesterol levels
7.1.2 Xanthomas and arcus corneae
7.1.3 Family history
7.1.4 Differentiation from sitosterolaemia
7.1.5 Cardiovascular complications and natural history
7.1.6 Screening for subclinical atherosclerosis
7.2 CURRENT TREATMENT FOR HOFH
7.2.1 Pharmacotherapy
7.2.2 Lipoprotein apheresis
7.2.3 Liver transplantation and other surgical approaches
7.2.4 Other issues
7.2.5 Recommendations

8 JAPAN ATHEROSCLEROSIS SOCIETY (JAS) GUIDELINES FOR PREVENTION OF ATHEROSCLEROTIC CARDIOVASCULAR DISEASES 2017

8.1 DIAGNOSIS OF HOFH
8.1.1 Diagnostic Criteria
8.2 TREATMENT OF HOFH
8.2.1 Target Levels for Management
8.2.2 Lifestyle Modification
8.2.3 Drug Therapy
8.2.4 LDL Apheresis in HoFH
8.2.5 Pregnancy and Delivery of Patients with HoFH
8.2.6 HoFH Designated as an Intractable Disease

9 GUIDANCE FOR PEDIATRIC FAMILIAL HYPERCHOLESTEROLEMIA (2017)

9.1 DIAGNOSIS OF PEDIATRIC HOFH
9.1.1 Clinical Features of Pediatric HoFH
9.1.2 Genetic Diagnosis of HoFH
9.1.3 Important Notes for Diagnosis of HoFH
9.1.4 Differential Diagnosis
9.2 EVALUATION FOR ATHEROSCLEROTIC CARDIOVASCULAR DISEASES IN PEDIATRIC HOFH
9.2.1 Medical Questionnaire
9.2.2 Physical Findings
9.2.3 Biochemical Examination
9.2.4 Morphological Examinations
9.3 TREATMENT OF PEDIATRIC HOFH
9.3.1 Drug Therapy for Pediatric HoFH

10 TREATMENT ALGORITHM FOR HOFH

11 EPIDEMIOLOGY AND PATIENT POPULATION

11.1 KEY FINDINGS
11.2 7MM PREVALENT POPULATION OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
11.3 7MM DIAGNOSED PREVALENT POPULATION OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

12 7MM EPIDEMIOLOGY OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (HOFH)

12.1 ASSUMPTIONS AND RATIONALE
12.2 UNITED STATES
12.2.1 Prevalence of Homozygous Familial Hypercholesterolemia (HoFH) in the United States
12.2.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in the United States
12.2.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in the United States
12.3 EU5 COUNTRIES
12.4 GERMANY
12.4.1 Prevalence of Homozygous Familial Hypercholesterolemia in Germany
12.4.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in Germany
12.4.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in Germany
12.5 FRANCE
12.5.1 Prevalence of Homozygous Familial Hypercholesterolemia in France
12.5.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in France
12.5.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in France
12.6 ITALY
12.6.1 Prevalence of Homozygous Familial Hypercholesterolemia in Italy
12.6.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in Italy
12.6.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in Italy
12.7 SPAIN
12.7.1 Prevalence of Homozygous Familial Hypercholesterolemia in Spain
12.7.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in Spain
12.7.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in Spain
12.8 UNITED KINGDOM
12.8.1 Prevalence of Homozygous Familial Hypercholesterolemia in the United Kingdom
12.8.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in the United Kingdom
12.8.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in the United Kingdom
12.9 JAPAN
12.9.1 Prevalence of Homozygous Familial Hypercholesterolemia in Japan
12.9.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in Japan
12.9.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in Japan

13 Appendix

13.1 Bibliography
13.2 Report Methodology

14 DelveInsight Capabilities

15 Disclaimer

16 About DelveInsight

List of Tables
TABLE 1: SUMMARY OF HOFH, MARKET, EPIDEMIOLOGY AND KEY EVENTS (2017-2030)
TABLE 2: RECOGNIZED ESTABLISHMENTS
TABLE 3: CRITERIA FOR THE DIAGNOSIS OF HOFH
TABLE 4: CARDIOVASCULAR COMPLICATIONS OF HOFH
TABLE 5: SUMMARY OF EAS CONSENSUS PANEL RECOMMENDATIONS.
TABLE 6: DIAGNOSTIC CRITERIA FOR HOFH IN ADULTS (15 YEARS OF AGE OR OLDER)
TABLE 7: PREVALENT POPULATION OF HOFH IN THE 7MM (2017-2030)
TABLE 8: DIAGNOSED PREVALENT POPULATION OF HOFH IN THE 7MM (2017-2030)
TABLE 9: PREVALENCE OF HOFH IN THE US (2017-2030)
TABLE 10: DIAGNOSED PREVALENCE OF HOFH IN THE US (2017-2030)
TABLE 11: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN THE US (2017-2030)
TABLE 12: PREVALENCE OF HOFH IN GERMANY (2017-2030)
TABLE 13: DIAGNOSED PREVALENCE OF HOFH IN GERMANY (2017-2030)
TABLE 14: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN GERMANY (2017-2030)
TABLE 15: PREVALENCE OF HOFH IN FRANCE (2017-2030)
TABLE 16: DIAGNOSED PREVALENCE OF HOFH IN FRANCE (2017-2030)
TABLE 17: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN FRANCE (2017-2030)
TABLE 18: PREVALENCE OF HOFH IN ITALY (2017-2030)
TABLE 19: DIAGNOSED PREVALENCE OF HOFH IN ITALY (2017-2030)
TABLE 20: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN ITALY (2017-2030)
TABLE 21: PREVALENCE OF HOFH IN SPAIN (2017-2030)
TABLE 22: DIAGNOSED PREVALENCE OF HOFH IN SPAIN (2017-2030)
TABLE 23: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN SPAIN (2017-2030)
TABLE 24: PREVALENCE OF HOFH IN THE UK (2017-2030)
TABLE 25: DIAGNOSED PREVALENCE OF HOFH IN THE UK (2017-2030)
TABLE 26: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN THE UK (2017-2030)
TABLE 27: PREVALENCE OF HOFH IN JAPAN (2017-2030)
TABLE 28: DIAGNOSED PREVALENCE OF HOFH IN JAPAN (2017-2030)
TABLE 29: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN JAPAN (2017-2030)

List of Figures
FIGURE 1: PROTEINS AFFECTING LOW-DENSITY LIPOPROTEIN RECEPTOR FUNCTION.
FIGURE 2: GENETICS AND GENETIC HETEROGENEITY OF HOFH
FIGURE 3: MECHANISMS OF ACTIONS OF LIPID-LOWERING THERAPIES
FIGURE 4: CLINICAL GENETIC TESTING FOR FAMILIAL HYPERCHOLESTEROLEMIA
FIGURE 5: ALGORITHM OF TREATMENT OF PEDIATRIC HOFH
FIGURE 6: TREATMENT FLOW CHART FOR ADULT (15 YEARS OR OVER) HOFH
FIGURE 7: PREVALENT POPULATION OF HOFH IN THE 7MM (2017-2030)
FIGURE 8: DIAGNOSED PREVALENT POPULATION OF HOFH IN THE 7MM (2017-2030)
FIGURE 9: PREVALENCE OF HOFH IN THE US (2017-2030)
FIGURE 10: DIAGNOSED PREVALENCE OF HOFH IN THE US (2017-2030)
FIGURE 11: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN THE US (2017-2030)
FIGURE 12: PREVALENCE OF HOFH IN GERMANY (2017-2030)
FIGURE 13: DIAGNOSED PREVALENCE OF HOFH IN GERMANY (2017-2030)
FIGURE 14: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN GERMANY (2017-2030)
FIGURE 15: PREVALENCE OF HOFH IN FRANCE (2017-2030)
FIGURE 16: DIAGNOSED PREVALENCE OF HOFH IN FRANCE (2017-2030)
FIGURE 17: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN FRANCE (2017-2030)
FIGURE 18: PREVALENCE OF HOFH IN ITALY (2017-2030)
FIGURE 19: DIAGNOSED PREVALENCE OF HOFH IN ITALY (2017-2030)
FIGURE 20: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN ITALY (2017-2030)
FIGURE 21: PREVALENCE OF HOFH IN SPAIN (2017-2030)
FIGURE 22: DIAGNOSED PREVALENCE OF HOFH IN SPAIN (2017-2030)
FIGURE 23: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN SPAIN (2017-2030)
FIGURE 24: PREVALENCE OF HOFH IN THE UK (2017-2030)
FIGURE 25: DIAGNOSED PREVALENCE OF HOFH IN THE UK (2017-2030)
FIGURE 26: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN THE UK (2017-2030)
FIGURE 27: PREVALENCE OF HOFH IN JAPAN (2017-2030)
FIGURE 28: DIAGNOSED PREVALENCE OF HOFH IN JAPAN (2017-2030)
FIGURE 29: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN JAPAN (2017-2030)