Homozygous Familial Hypercholesterolemia - Epidemiology Forecast - 2032

DelveInsight's 'Homozygous Familial Hypercholesterolemia - Epidemiology Forecast - 2032' report delivers an in-depth understanding of the homozygous familial hypercholesterolemia, historical and forecasted epidemiology, and the homozygous familial hypercholesterolemia trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Homozygous Familial Hypercholesterolemia Disease Understanding

Homozygous familial hypercholesterolemia is a rare and severe genetic disorder that affects cholesterol metabolism. It is an inherited condition caused by mutations in both copies of the LDLR (low-density lipoprotein receptor) gene or other genes related to cholesterol metabolism, such as the APOB or PCSK9 genes. The LDLR gene encodes a receptor responsible for removing low-density lipoprotein (LDL) cholesterol from the bloodstream.

In homozygous familial hypercholesterolemia, the mutations in both copies of LDLR gene severely impairs the function of these receptors, resulting in extremely high levels of LDL cholesterol in the blood. Individuals have high cholesterol levels despite following a low-cholesterol diet and other lifestyle modifications.

The disease is characterized by plasma cholesterol levels higher than 13 mmol/L (>500 mg/dL), corneal arcus, xanthomas, xanthelasmas, and marked premature and progressive atherosclerotic cardiovascular disease. It is typically diagnosed early in life, and high LDL cholesterol levels increase the risk of cardiovascular complications such as heart attacks and strokes at a young age.

Homozygous Familial Hypercholesterolemia Diagnosis

Diagnosing homozygous familial hypercholesterolemia involves a combination of clinical evaluation, family history assessment, physical examination, lipid profile testing, and genetic testing. Genetic testing ensures confirmation of two mutant alleles at the LDLR, APOB, PCSK9, or LDLRAP1 gene locus. The plasma LDL-C level is the critical discriminator, being about four times and about two times higher in family members with homozygous familial hypercholesterolemia, compared with unaffected members. Historically, homozygous familial hypercholesterolemia has been diagnosed on the basis of an untreated LDL-C plasma concentration of >13 mmol/L (>500 mg/dL), or a treated LDL-C concentration of =8 mmol/L (=300 mg/dL), and the presence of cutaneous or tendon xanthomas before the age of 10 years, or the presence of untreated elevated LDL-C levels consistent with HeFH in both parents. Evidence of arcus corneae reinforces the clinical diagnosis.

A careful family history is essential for comprehensive assessment of possible FH in general, and homozygous familial hypercholesterolemia in particular. Systematic cascade or opportunistic screening offers prospective parents the possibility of making informed decisions prenatally, and identifying homozygous familial hypercholesterolemia patients at birth.

Continued in the report…..

Homozygous Familial Hypercholesterolemia Epidemiology Perspective by DelveInsight

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by the total diagnosed prevalent cases of homozygous familial hypercholesterolemia and mutation-specific cases of homozygous familial hypercholesterolemia in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2019 to 2032.

Homozygous Familial Hypercholesterolemia Detailed Epidemiology Segmentation

• In 2022, there were about 2,845 total diagnosed prevalent cases of homozygous familial hypercholesterolemia in the 7MM. These cases are expected to increase by 2032 at a CAGR of 0.3% during the study period (2019-2032).
• As per the estimates by DelveInsight, the total diagnosed prevalent cases of homozygous familial hypercholesterolemia in the US were estimated to be approximately 1,349. These cases are expected to increase by 2032.
• Among the 7MM, the EU4 and the UK accounted for approximately 38% of the total diagnosed prevalent cases of homozygous familial hypercholesterolemia, which is expected to increase further during the study period (2019-2032).
• Among the 7MM, Japan accounted for the second-highest total diagnosed prevalent cases of homozygous familial hypercholesterolemia in 2022, with approximately 414 cases. These cases are anticipated to decrease by 2032.
• In 2022 approximately 1,214 cases of homozygous familial hypercholesterolemia were reported due to mutation in LDLR gene, followed by 67 cases of APOB, 54 cases of others (LDLRAP1, APOE, SREBP2, STAP1), and 13 cases of PCSK9 gene mutation in the US. DelveInsight estimates these are expected to increase during the forecast period (2023-2032).
• In Japan, there were around 289 cases of homozygous familial hypercholesterolemia due to mutation in LDLR gene, followed by 89 cases of others (LDLRAP1, APOE, SREBP2, STAP1), 24 cases of PCSK9, and 12 cases of APOB in 2022. The cases are anticipated to decrease by 2032.

Scope of the Report:

• The report covers a descriptive overview of homozygous familial hypercholesterolemia, explaining its symptoms, grading, pathophysiology, and various diagnostic approaches.
• The report provides insight into the 7MM historical and forecasted patient pool covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
• The report assesses the disease risk and burden of homozygous familial hypercholesterolemia.
• The report recognizes the growth opportunities in the 7MM concerning the patient population.
• The report provides the segmentation of the disease epidemiology for the 7MM, total diagnosed prevalent cases of homozygous familial hypercholesterolemia, and mutation-specific cases of homozygous familial hypercholesterolemia.

Report Highlights:

• Ten years forecast of homozygous familial hypercholesterolemia
• The 7MM coverage
• Total diagnosed prevalent cases of homozygous familial hypercholesterolemia
• Mutation-specific cases of homozygous familial hypercholesterolemia

Key Questions Answered

• What is the disease risk associated with homozygous familial hypercholesterolemia?
• What is the historical homozygous familial hypercholesterolemia patient pool in the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan?
• What would be the forecasted patient pool of homozygous familial hypercholesterolemia at the 7MM level?
• What will be the growth opportunities across the 7MM concerning the patient population with homozygous familial hypercholesterolemia?
• Which country would have the highest prevalent population of homozygous familial hypercholesterolemia among the countries mentioned above during the forecast period (2023-2032)?
• At what CAGR is the population expected to grow across the 7MM during the forecast period (2023-2032)?

Reasons to Buy:

The homozygous familial hypercholesterolemia report will allow the user to:

• Develop business strategies by understanding the trends shaping and driving the 7MM homozygous familial hypercholesterolemia epidemiology forecast.
• The homozygous familial hypercholesterolemia epidemiology report and model were written and developed by Masters and Ph.D. level epidemiologists.
• The homozygous familial hypercholesterolemia epidemiology model developed by DelveInsight is easy to navigate, interactive with a dashboard, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports the data presented in the report and showcases disease trends over the 10-year forecast period using reputable sources.

Key Assessments

• Patient segmentation
• Disease risk and burden
• Risk of disease by the segmentation
• Factors driving growth in a specific patient population

Geographies Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2019-2032