Von Hippel Lindau Disease Epidemiology Forecast

DelveInsight’s ‘Von Hippel-Lindau (VHL) disease - Epidemiology Forecast to 2030’ report delivers an in-depth understanding of the disease, historical and forecasted Von Hippel-Lindau (VHL) Disease epidemiology in the 7MM, i.e., the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

Geography Covered

  • The United States
  • EU5 (Germany, France, Italy, Spain, and the United Kingdom)
  • Japan

Study Period: 2018–2030

Von Hippel-Lindau (VHL) Disease Understanding

Von Hippel–Lindau (VHL) disease is an autosomal dominantly inherited neoplastic disorder that demonstrates marked phenotypic variability and age-dependent penetrance. A germline mutation in the VHL gene predisposes carriers to the development of abundantly vascularized tumors in multiple organs. There is a familial occurrence in 80% of cases, and the remaining cases (20%) are de novo mutations. Tumors usually first appear in young adulthood. The types of tumors associated with VHL disease include hemangioblastomas (slow-growing tumors of the central nervous system); kidney cysts and clear cell renal cell carcinoma; pancreatic neuroendocrine tumors; pheochromocytomas (noncancerous tumors of the adrenal glands); and endolymphatic sac tumors.


VHL disease does not have a single primary symptom; this is in part because it does not occur exclusively in one organ of the body. It also does not always occur in a particular age group. Specific genotype–phenotype correlations in affected families led to the classification of VHL subtypes into types 1 and 2, primarily based on the presence of a pheochromocytoma (PCC). VHL is classified on the basis of absence or presence of pheochromocytoma. Those without PCC were categorized as VHL type 1 disease. Those with PCC were categorized as VHL type 2 disease. VHL type 2 disease is further classified into three categories: type 2A, type 2B, and type 2C. Type 2A VHL has PCC with other HB in the CNS but not with RCC. Type 2B exhibits PCC, RCC, and other CNS tumors. A recent notion is that type 2C disease has only PCC, with no other disease.


Without treatment, VHL patients may have blindness and/or permanent brain damage. Death usually results from the complications of brain tumors or kidney cancer. Most VHL lesions are much easier to treat when they are small. Several possible complications of VHL do not present with symptoms until the problem has developed to a critical level. Treatment may only be able to stop symptoms that have occurred; it is not always possible to reverse the changes and go back to normal.


Von Hippel-Lindau (VHL) Disease Diagnosis

In the presence of positive family history, VHL disease can be diagnosed clinically in a patient with at least one typical VHL tumor. Typical VHL tumors are retinal, spinal, and cerebellar hemangioblastoma, renal cell carcinoma, and pheochromocytoma. Endolymphatic sac tumors and multiple pancreatic cysts suggest a positive carriership (in the presence of a positive VHL family history) since they are uncommon in the general population. In contrast, renal and epididymal cysts frequently occur in the general population and are, as sole manifestation, not reliable indicators for VHL disease. In patients with a negative family history of VHL-associated tumors, a diagnosis of VHL disease can also be made when they exhibit two or more hemangioblastomas or a single hemangioblastoma in association with another typical manifestation.


The only way to determine for sure that someone does not have an altered VHL gene is through DNA testing. A clinical diagnosis can also be made when a person exhibits a tumor-specific VHL. Once a VHL diagnosis has been made, it is important to begin surveillance testing early before any symptoms occur. Initial screening workup includes a thorough history and clinical examination, an ophthalmologic examination including fundoscopy, MR imaging of the craniospinal axis, kidneys, pancreas, and liver, an audiological examination, and laboratory tests (to detect pheochromocytomas). Genetic testing of the peripheral leukocytes and/or other body tissues is performed to confirm the presence of a VHL gene mutation. Other than this, tumors at various sites are demonstrable by using different imaging modalities, including ultrasonography, CT, MRI, radionuclide studies, and angiography. Also, establishing the diagnosis of pheochromocytoma is dependent on the demonstration of significant catecholamine excess. Levels of epinephrine (adrenaline), norepinephrine (noradrenaline), and their metabolites (breakdown products of epinephrine and norepinephrine) can be measured in either urine or blood.

Epidemiology Perspective by DelveInsight

The Von Hippel-Lindau (VHL) disease epidemiology division provides insights about historical and current VHL disease patient pool and forecasted trends for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken.


Key Findings

In the year 2020, the total prevalent cases of Von Hippel-Lindau (VHL) Disease was 21.6 thousand cases in the 7MM which are expected to grow during the study period, i.e., 2018–2030.


The disease epidemiology covered in the report provides historical as well as forecasted Von Hippel-Lindau (VHL) Disease epidemiology [segmented as Total Prevalent Cases of Von Hippel-Lindau (VHL) Disease, Total Symptomatic/Diagnosed Cases of Von Hippel-Lindau (VHL) Disease, Total Clinical Manifestation-specific Cases of Von Hippel-Lindau (VHL) Disease, and Total Treated Cases of Von Hippel-Lindau (VHL) Disease] in the 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom), and Japan from 2018 to 2030.

Country Wise- Von Hippel-Lindau (VHL) Disease Epidemiology

Estimates show that the highest cases of Von Hippel-Lindau (VHL) Disease in the 7MM were in the United States, followed by Japan, Germany, the United Kingdom, France, Italy, and Spain in 2020.

  • In the United States, the total number of prevalent cases of Von Hippel-Lindau (VHL) Disease was 9.2 thousand cases in the year 2020 which are expected to grow during the study period, i.e., 2018–2030.
  • In the year 2020, the total prevalent cases of Von Hippel-Lindau (VHL) Disease were 9.3 thousand cases in EU-5 which are expected to grow during the study period, i.e., 2018–2030.
  • In Japan, the total number of prevalent cases of Von Hippel-Lindau (VHL) Disease was 3.0 thousand cases in the year 2020 which are expected to grow during the study period, i.e., 2018–2030.

Scope of the Report

  • The Von Hippel-Lindau (VHL) Disease report covers a detailed overview explaining its causes, symptoms, classification, pathophysiology, diagnosis, and treatment patterns.
  • The Von Hippel-Lindau (VHL) Disease Report and Model provide an overview of the risk factors and global trends of Von Hippel-Lindau (VHL) Disease in the seven major markets (7MM: The United States, Germany, France, Italy, Spain, the United Kingdom, and Japan)
  • The report provides insight about the historical and forecasted patient pool of Von Hippel-Lindau (VHL) Disease in seven major markets covering the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.
  • The report helps to recognize the growth opportunities in the 7MM concerning the patient population.
  • The report assesses the disease risk and burden and highlights the unmet needs of Von Hippel-Lindau (VHL) Disease.
  • The report provides the segmentation of the Von Hippel-Lindau (VHL) Disease epidemiology by total prevalent cases in the 7MM.
  • The report provides the segmentation of the Von Hippel-Lindau (VHL) Disease epidemiology by total diagnosed cases in the 7MM.
  • The report provides the segmentation of the Von Hippel-Lindau (VHL) Disease epidemiology by total clinical manifestation-specific cases in the 7MM.
  • The report provides the segmentation of the Von Hippel-Lindau (VHL) Disease epidemiology by total treated cases in the 7MM.

Report Highlights

  • 10-Year Forecast of Von Hippel-Lindau (VHL) Disease epidemiology
  • 7MM Coverage
  • Total Prevalent Cases of Von Hippel-Lindau (VHL) Disease
  • Total Diagnosed Cases of Von Hippel-Lindau (VHL) Disease
  • Total Clinical Manifestation-Specific Cases of Von Hippel-Lindau (VHL) Disease
  • Total Treated Cases (across lines) of Von Hippel-Lindau (VHL) Disease

KOL-Views

We interview KOL’s and SME's opinion through primary research to fill the data gaps and validate our secondary research. The opinion helps to understand the total patient population and current treatment pattern. This will support the clients in potential upcoming novel treatment by identifying the overall scenario of the indications.

Key Questions Answered

  • What will be the growth opportunities in the 7MM concerning the patient population of Von Hippel-Lindau (VHL) Disease?
  • What are the key findings of the Von Hippel-Lindau (VHL) Disease epidemiology across the 7MM and which country will have the highest number of patients during the study period (2018–2030)?
  • What would be the total number of patients of Von Hippel-Lindau (VHL) Disease across the 7MM during the study period (2018–2030)?
  • Among the EU5 countries, which country will have the highest number of patients during the study period (2018–2030)?
  • At what CAGR the patient population is expected to grow in the 7MM during the study period (2018–2030)?
  • What are the various recent and upcoming events which are expected to improve the diagnosis of Von Hippel-Lindau (VHL) Disease?

Reasons to buy

The Von Hippel-Lindau (VHL) Disease Epidemiology report will allow the user to -

  • Develop business strategies by understanding the trends shaping and driving the global Von Hippel-Lindau (VHL) Disease market
  • Quantify patient populations in the global Von Hippel-Lindau (VHL) Disease market to improve product design, pricing, and launch plans
  • Organize sales and marketing efforts by identifying the gender that presents the best opportunities for Von Hippel-Lindau (VHL) Disease therapeutics in each of the markets covered
  • Understand the magnitude of Von Hippel-Lindau (VHL) Disease population by its clinical manifestation-specificity
  • The Von Hippel-Lindau (VHL) Disease epidemiology report and model were written and developed by Masters and Ph.D. level epidemiologists
  • The Von Hippel-Lindau (VHL) Disease Epidemiology Model developed by DelveInsight is easy to navigate, interactive with dashboards, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports data presented in the report and showcases disease trends over an 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

1. Key Insights

2. Report Introduction

3. Executive Summary of Von Hippel-Lindau (VHL) Disease

3.1. Key Events

4. Epidemiology Methodology

5. Disease Background and Overview

5.1. Introduction

5.2. Clinical Manifestations of VHL

5.2.1. Central Nervous System Hemangioblastomas

5.2.2. Renal Cell Carcinomas and Renal Cysts

5.2.3. Pheochromocytoma

5.2.4. Retinal Hemangioblastomas

5.2.5. Papillary Cystadenomas

5.2.6. Epididymal Cystadenomas

5.2.7. Pancreatic Neuroendocrine Tumors and Cysts

5.2.8. Endolymphatic Sac Tumors

5.3. Signs and Symptoms of VHL

5.4. Risk Factors and Causes of VHL

5.4.1. Genetics of VHL

5.5. Classification of VHL

5.6. Pathophysiology of VHL

5.7. Complications of VHL

6. Diagnosis of VHL

6.1. Screening of VHL

6.2. Genetic Testing

6.3. Imaging Tests

6.4. Laboratory Tests

6.5. Differential diagnosis

7. Diagnostic Guidelines

7.1. VHL Alliance Active Surveillance Guidelines

7.2. VHL disease Clinical practice guidelines 2017 edition

8. Epidemiology and Patient Population

8.1. Key Findings

8.2. Epidemiology of Von Hippel-Lindau (VHL) Disease

8.3. Epidemiology Scenario

8.3.1. Total Prevalent Cases of VHL disease

8.3.2. Total Symptomatic/ Diagnosed Cases of VHL disease

8.3.3. Total Clinical Manifestation-specific Cases of VHL disease

8.3.4. Total Treated Cases of VHL disease

9. Appendix

9.1. Bibliography

9.2. Report Methodology

10. DelveInsight Capabilities

11. Disclaimer

12. About DelveInsight

List of Table

Table 1: Summary of Von Hippel-Lindau (VHL) Disease, Market, Epidemiology, and Key Events (2018–2030)

Table 2: Key Classifications of VHL

Table 3: Cambridge Protocol for Screening Patients With VHL Disease

Table 4: Imaging Features of VHL-related Benign and Malignant Tumors

Table 5: VHL Alliance Active Surveillance Guidelines

Table 6: Total Prevalent Cases of VHL disease in 7MM (2018–2030)

Table 7: Total Symptomatic/ Diagnosed Cases of VHL Disease in 7MM (2018–2030)

Table 8: Total Clinical manifestation-specific Cases of VHL Disease in 7MM (2018–2030)

Table 9: Total Treated Cases of VHL Disease in 7MM (2018–2030)

List of Figures

Figure 1: Epidemiology and Market Methodology

Figure 2: Tumors in VHL Disease

Figure 3: Inheritance Pattern of VHL

Figure 4: Mechanism of Action of VHL Protein

Figure 5: Total Prevalent Cases of VHL disease in the 7MM (2018–2030)

Figure 6: Total Symptomatic/ Diagnosed Cases of VHL disease in the 7MM (2018–2030)

Figure 7: Total Clinical Manifestation-specific Cases of VHL disease by country (2018)

Figure 8: Total Treated Cases of VHL disease in the 7MM (2018–2030)

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