Knowledge

What is Von Hippel-Lindau disease?

Von Hippel-Lindau disease (VHL disease) is a rare genetic disorder in which multiple tumors and cysts can grow in various parts of the body.

11.04.2024

Picture: the human body and the places where VHL can cause tumors and cysts

Von Hippel-Lindau disease (VHL) is caused by a genetic defect that leads to the development of various, mostly benign tumors (accumulations of tissue) and cysts (fluid-filled cavities in tissue). They can often occur in the brain and spinal cord, in the retina, in the kidneys, in the pancreas, in the inner ear, but also in other parts of the body.

If left untreated, the disease can be life-threatening.

VHL disease is rare

VHL disease occurs in about one out of 36,000 people. Around 200,000 cases are known worldwide. The precise time at which the first signs of the disease appear and how severe the course of the disease is can vary greatly.

At the time of diagnosis, those affected are on average 26 years old. In around 97% of people with a VHL gene mutation, symptoms appear by the age of 65. Men and women are equally affected.

Cause of the disease

The cause of Von Hippel-Lindau disease is a defect in the so-called VHL gene.

In healthy people, the VHL gene produces a protein that prevents the development of tumors. In people with Von Hippel-Lindau disease, this gene does not function as it should. It cannot produce enough protein to prevent tumor formation.

In most cases, VHL disease is inherited

Von Hippel-Lindau disease is inherited in a manner known as “autosomal dominant”.

This means that if one parent has a defect in the VHL gene, each of his/her children has a 50% chance of inheriting this gene and developing the disease.
Approximately 80% of affected people have a parent with VHL disease.
In around 20% of those affected, VHL disease occurs without either parent being affected.

Clinical presentation

VHL disease is also known as “multisystem disease”. This is because several tumors and cysts typically grow in various organs.

Most VHL tumors are benign. However, as they grow larger, they can cause discomfort and pain and, if left untreated, they can significantly impair quality of life.

Possible medical findings in VHL disease:

Tumors in the brain and spinal cord
They can cause headaches, dizziness, and neurological symptoms.
Tumors in the retina
They can lead to visual impairment.
Kidney diseases
These include kidney cysts and renal cell carcinomas (kidney cancers).
Pancreatic diseases
They include cysts and tumors in the pancreas.
Tumors and cysts in other organs, such as the liver, lungs, or reproductive organs.

Important: the clinical presentation varies from person to person. The age of onset and the course of the disease also vary from person to person.

Diagnosis

There are indications and criteria that may indicate VHL.

These include:

Family history
There are cases of VHL or other genetic tumor diseases in the family.

Ongoing tumor diseases
Presence of cysts and tumors in various organs in the body..

Since the disease is caused by a genetic defect, genetic testing is crucial to confirm the diagnosis. Individuals with a genetic predisposition to VHL should be closely and regularly monitored by a team of specialists from various disciplines.

Therapy

Thanks to intensive research in recent years, medical knowledge and therapy options for treating VHL disease have significantly improved. Nevertheless, the treatment remains complex. The main aim is to remove tumors and cysts, if possible, to reduce their size or stop their growth before they become so large that they cause permanent discomfort.

Treatment options include:

Surgery to surgically remove tumors or cysts.
Laser therapy for certain tumors, for example of the eye.
Radiotherapy to reduce the size of the tumor.
Radiofrequency ablation (RFA), a procedure in which cancer cells are killed by heat.
Medication therapies to contain tumor growth.

The suitability and timing of these treatment options vary from person to person and depend on the specific tumors, symptoms, and overall health condition.

Picture: Doctor in conversation with patient

Information for medical professionals

For further information on MSD medicines and vaccines, please visit mymsd.ch, the web portal exclusively for medical professionals.

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Information for patients

Are you looking for information about specific diseases, their causes, symptoms, prevention or treatment? Discover msd-gesundheit.ch, the information platform exclusively for patients.

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Infectious Diseases

MSD’s Commitment to Combating Antimicrobial Resistance: A Call for Global Action

Alarming levels of drug-resistant infections have been reported in humans and animals in countries of all income brackets.

16 November 2023

AMR is a problem for all of us and it will take all of us working together to address it. In the spirit of this year’s WAAW theme, “Preventing Antimicrobial Resistance Together,” MSD reiterates the commitment to addressing AMR globally via a “One Health” approach, but also calls on the need for collective action from industry, governments, multilateral organizations, and civil society to work together to fully address the rising threat of AMR.

World Antimicrobial Awareness Week (WAAW) provides an important opportunity to raise public awareness that AMR represents one of the greatest threats the world faces

AMR is sometimes called the “silent tsunami”, as it has not yet received the attention it deserves but continues to inexorably rise.

The facts:

In 2019, almost 5 million deaths were associated with AMR, more than all other causes of death other than heart disease and stroke.
Alarming levels of drug-resistant infections have been reported in humans and animals in countries of all income brackets.
AMR poses a formidable challenge to the global economy, with significant risks for sustainable food production and global trade.

Mitigating AMR: Strategies and Imperative Actions

AMR can’t be fully stopped, but there is knowledge on how to slow down AMR and help public health systems get ahead of it. This can be done by implementing evidence-based policies such as antimicrobial stewardship programs, which help ensure antimicrobials are only used when they are truly needed, as well as preventative vaccination that can help limit the need to prescribe antimicrobial medicines.

However, completely overcoming AMR solely through stewardship is not feasible. It is necessary to complement these efforts with a robust and diverse pipeline of new antimicrobials under development to ensure effective treatments against the increasing rates of resistance to existing medicines.

Shortage of New Antimicrobials: Commercial Challenges and Declining Investment

Unfortunately, the general pipeline of new antimicrobials is woefully inadequate to address both current and future AMR threats. Relatively few are in development today due to a confluence of unique challenges that make antibiotics commercially unsustainable. As a result, investment into new antimicrobials has declined significantly, with many companies exiting this space. Those that remain struggle to remain commercially sustainable, and several biotech’s with approved antibiotics meeting unmet AMR needs have filed for bankruptcy.

MSD’s pioneering role and the AMR Action Fund

For over a century, MSD has played a leading role in combating AMR, not only discovering and developing a range of medicines and vaccines that treat and prevent infectious diseases in humans and animals. As one of the last large pharmaceutical companies committed to addressing AMR, MSD sees the urgency to find solutions to the market failures for novel antimicrobial medicines to drive antimicrobial innovation.

Recognizing the need to buy time for governments around the world to advance policy solutions to these market failures, in 2020 MSD joined a group of 20 leading biopharmaceutical companies to launch the $1B AMR Action Fund. This groundbreaking partnership aims to bring two to four new antimicrobials to patients by 2030.

As a lead investor, MSD has committed $100 million over 10 years to help bridge the gap between the antimicrobial pipeline and patients. But the Fund is a temporary and time-limited bridge that will only work if governments make the necessary reforms to create a sustainable market.

MSD is also working with industry partners, governments, health care providers, and others to support AMR surveillance, promote appropriate use, and prevent infections through vaccination through a One Health approach.

MSD maintains one of the world’s largest and longest running AMR surveillance study, the Study for Monitoring Antimicrobial Resistance Trends (SMART). Launched in 2002, SMART enables researchers to monitor the susceptibility of bacteria to antimicrobials and identify trends in the development of resistance.
Dedicated to preserving and improving the health and wellbeing of animals, MSD is one of the world’s largest manufacturers of animal vaccines, producing over 102 billion doses per year to help prevent infections that may require the use of antimicrobials.
Recognizing the critical role for antimicrobial stewardship to slow the development of resistance, MSD has collaborated with over 1,100 hospitals in 28 countries as an antimicrobial stewardship resource and partner to create patient-centric, product-agnostic stewardship programs around the world.

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Our team

Volunteering? A point of honor for us at MSD

Did you know that MSD employees can use 40 hours of paid working time each year to volunteer in various projects? Here you can find out how this can look like.

13 October 2025

Clean-Up-Days in Lucerne und Zurich

Every year, our employees support voluntary activities for their communities. The Clean-Up-Days in Lucerne and Zurich, organized together with the IG Sauber Umwelt (IGSU), are an example of such a volunteering opportunity.

Employees from all five MSD Switzerland locations were invited to roll up their sleeves on two days and help to rid the cities of Lucerne and Zurich of waste. A team of over 50 employees gathered to work together for this good cause.

«We have collected over 68 kg of waste and disposed of it correctly!»

Anabel D., MSD employee at the Citybay location, Lucerne

Picture: MSD employees in action — MSD employees in action

Picture: 2.5 kg of cigarette butts collected — 2.5 kg of cigarette butts collected

Picture: Clean-Up-Days in Lucerne and Zurich — Clean-Up-Days in Lucerne and Zurich

Why volunteering is important to us at MSD

Volunteering at MSD means get involved for worthy charitable organizations on a voluntary basis during paid working hours. Another possibility is to contribute your professional skills to international projects within the MSD Fellowship for Global Health Programs.

Our volunteer commitment is a sign of solidarity. It aims to promote a culture of social interaction, improve the living conditions of disadvantaged people and benefit the community. Simply put, with our commitment we want to help and give something back to society and our environment. Those who volunteer also take advantage of the opportunity to network with other MSD colleagues and learn or improve skills that are not part of their everyday work routine.

«The Clean-Up-Days were a great experience and an excellent opportunity to exchange ideas with colleagues from other locations.»

Rafael F., MSD employee at The Circle location, Zurich

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Knowledge

What is pulmonary hypertension?

Shortness of breath, tiring more quickly and reduced capacity are amongst the early signs of pulmonary hypertension. Learn more about this chronic disease.

26.09.2023

Pulmonary hypertension (PH) is a chronic pathological increase in blood pressure in the pulmonary vessels that can result in a significant impairment of physical capacity. Due to its unspecific symptoms, it is often difficult to detect pulmonary hypertension. If it is not treated, it can be life-threatening.

Diagnosing pulmonary hypertension is not easy

The complaints are at first often mild and may also indicate other diseases such as asthma, bronchitis or chronic fatigue syndrome. That is why it can take on average up to 2.5 years to make a diagnosis. This is valuable time in which the patient is not receiving any effective therapy.

The initial symptoms of pulmonary hypertension may include:

Shortness of breath during physical exertion such as when climbing or going up stairs
Increased fatiguability
Feeling of tightness in chest
Heart palpitations, faster heartbeat
Dizziness during intense physical exertion
Reduced capacity

In an advanced stage, these complaints may occur:

Signs of a decreasing pumping power of the right heart, such as water accumulations in the legs (oedema) and distended jugular veins
Intense chest pain, as in a heart attack
Blue lips as a sign of reduced oxygen supply to the body, low or falling blood pressure readings in the systemic circulation

Treatment of pulmonary hypertension is done by a team of specialists

Only specialists with extensive experience can treat pulmonary hypertension because the therapy is complex and must be individually adapted to each patient based on the causes and symptoms. Therefore, it is important that those affected be treated in a specialised centre for pulmonary hypertension.

In Switzerland there are several specialised centres for pulmonary hypertension, so-called PH centres

In a PH centre, experts from different medical specialties collaborate in an interdisciplinary manner to enable patients with pulmonary hypertension to receive the therapy that gives them the greatest possible quality of life. The specialists are able to detect, diagnose and treat pulmonary hypertension. Moreover, PH centres are established for emergencies and offer those affected round the clock support.

Overview of PH centres in Switzerland

Our commitment

The sooner pulmonary hypertension is diagnosed and treated, the sooner a patient can benefit from an improvement in the quality of his or her life. With our commitment, we wish to contribute to the clarification and early detection of the disease.

Find out more

members of the SGPH standing on the maedow

Support for patients

The Schweizerische Gesellschaft für Pulmonale Hypertonie SGPH [Swiss Society for Pulmonary Hypertension, SGPH] is a panel of experts and is available as a reference centre on the subject of pulmonary hypertension for physicians and patients.

Find out more

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Company

Inside Schachen: a glance at our high-tech development center

Our MSD site in Schachen in the Canton of Lucerne is no ordinary site. It is a fusion of the most modern technology, innovative research and development, and an inspiring work environment.

13.07.2023

Picture: drone shooting of MSD Schachen location

Our site in Schachen plays a key role in the development of new, innovative medicines. Since its establishment in 1976, the site has continually grown. Today, about 490 employees from 30 countries work in Schachen.

Here is what we do in Schachen:

01.

We manufacture biotechnological active substances.

In Schachen, we have at our disposal biotechnical production on a clinical scale for producing new active substances, as well as capacities for sterile filling of new medicines.

02.

We supply medicines for global clinical studies.

Schachen is one of only two sites in MSD’s global network that provides new medicines for clinical studies worldwide. Here, the clinical test samples are packed, labeled and then shipped to clinical sites all over the world. The strictly monitored studies show whether the new medicines are effective and safe.

03.

We develop analytical methods for new active substances and medicines.

Analytical development is one of our main areas. In various specialized laboratories, we examine cell cultures, conduct tests with bioassays and offer everything needed to develop analysis methods for new active substances and medicines, from PCR analytics and mass spectroscopy to biochemical analyzes.

04.

We work on analysis methods that allow a continuous production process to be seamlessly monitored and controlled.

Continuous production processes in the pharmaceutical industry are still the exception because the technical and regulatory requirements are very high.

05.

We operate a forensic laboratory in which suspected cases of counterfeit medicines are investigated.

In Schachen, we operate one of three forensic laboratories worldwide with the goal of quickly detecting manipulations and counterfeits of MSD products. Our scientists work with the aid of analytical methods and highly specialized instruments to differentiate counterfeits from original products and, if necessary, to present the results in court as experts to support corresponding criminal prosecutions. They also work on further optimizing the counterfeit protection of MSD products worldwide.

«At the Schachen site, it’s not just a matter of the most modern technology and innovative research, but primarily about people. I am incredibly proud of our team, which works passionately and is committed to improve the lives of patients with ground-breaking discoveries and the development of new medicines. Their untiring commitment makes Schachen a place where we achieve greatness together.»
DR. CORINNA LENZ, DIRECTOR, MSD SCHACHEN SITE

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Infectious Diseases

Our commitment to the fight against COVID-19

As a company with a long legacy of research in vaccines and infectious diseases, we’ve been committed to advancing an effective response to COVID-19 since it was first discovered.

11.07.2023

«We’ve been focused on contributing our scientific expertise and experience to help address COVID-19.»

01.

Our oral antiviral COVID-19 medicine

In collaboration with Ridgeback Biotherapeutics, we have advanced our research and development efforts for our COVID-19 medicine, making an important contribution to the care of COVID-19 patients.

We are working with health authorities to make our therapeutic option available worldwide.

02.

Access to health care

We have a long track record of making our medicines and vaccines accessible and affordable. Our comprehensive supply and access strategy has enabled timely and broad access to our COVID-19 medicine for patients around the world, including in low- and middle-income countries.

We have also provided UNICEF with up to 3 million treatment units for low- and middle-income countries.

Through our licensing agreements with generics manufacturers and the Medicines Patent Pool, more than 5 million courses of generic therapy have been delivered to 22 low- and middle-income countries through December 2022.

03.

Our commitment as an employer

Throughout the COVID-19 pandemic, we’ve prioritized the health, safety and well-being of our employees and their families and supported our health care providers and our communities, including through volunteer work and donation efforts.

We continue to research

We are proud to turn breakthrough science into medicines and vaccines that save and improve lives around the world. We focus on finding new solutions for today and the future.

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Infectious Diseases

Addressing antibiotic resistance is more critical than ever. Here’s why.

Since their development, antibiotics have transformed health care and saved countless lives globally. But rising levels of antimicrobial resistance (AMR) make current antibiotics less effective.

18.05.2023

Doctor talking to patient lying in a hospital bed

There’s no single or simple solution to the complex problem of AMR, but we’re committed to investing our expertise and resources alongside our partners to get much-needed antibiotics to those who need them most. Lives are at risk, and the time to act is now.

True to our company’s longstanding tradition of preventing and treating infectious diseases, we’re proud to commit to invest $100 million over 10 years in the new AMR Action Fund. Through this groundbreaking partnership of leading pharmaceutical companies, philanthropies, development banks and multilateral organizations, we aim to bridge the gap between the innovative early antibiotic pipeline and patients. New antibiotics are urgently needed. With this new fund for antibiotic research and development, our collective aim is to bring two to four new antibiotics to patients and physicians by the end of the decade.

Here are five key reasons to build on these collaborative efforts to address AMR:

01.

New antibiotics are urgently needed; however, there are relatively few in development.

AMR is a naturally occurring phenomenon through which bacteria build up defenses against antibiotics. The nature of resistance means that there is a continual need to develop new antibiotics so we can stay a step ahead of resistant pathogens.

MSD has remained committed to antibiotic R&D for over 80 years and brought forward new treatments each decade. However, major scientific, regulatory and economic challenges discourage innovation in antibiotics, resulting in a significant decline in the number of companies conducting antibiotic and antifungal R&D over the last two decades. Recognizing there is unlikely to be a one-size-fits-all solution to the problem, MSD and others have suggested a series of policy reforms across several regions of the world. However, time is running out. We need collaboration from policymakers across the globe to help antibiotic innovation flourish for decades to come.

02.

Once new antibiotics are approved, they need to be used appropriately.

While developing new antimicrobials is important, slowing resistance to current medicines is equally crucial. Appropriate antibiotic therapy can play an important role in treating patients with resistant infections and preserving the effectiveness of antibiotics.

We must work together to implement evidence-based policies and programs that support the appropriate prescribing and use of antimicrobials. At MSD, we are making significant investments to support antimicrobial stewardship (AMS), helping hospitals around the world to develop and implement patient-centered AMS programs that are customized at the local level based on factors like epidemiology, clinical setting and resource availability. We also provide significant grant funding to support a wide range of AMS initiatives and collaborations.

Some of our global contributions to AMS:

Supported the development of several AMS Centers of Excellence throughout the world

Helped public health leaders effectively monitor and address emerging AMR infections, promote AMS and customize accepted AMS strategies to meet local needs

Contributed toward meaningful standardized patient safety outcome measures for US hospital AMS programs

Funded a round of Discovery Awards (small seed grants to help diagnostic innovators get their ideas off the ground and improve their chances of winning the UK-based Longitude Prize)

03.

We must track resistance trends and use the data to inform on prescribing.

To ensure that antibiotics are being prescribed appropriately, clinical treatment guidelines must remain up-to-date and based on resistance trends. Surveillance studies can assist in identifying these trends in pathogen incidence and AMR, and can also identify emergent resistant strains.

At MSD, we work with public health bodies, health care professionals and diagnostics companies to inform appropriate antibiotic use by sharing surveillance data. One of the largest AMR surveillance programs, our Study for Monitoring Antimicrobial Resistance Trends (SMART) program has collected approximately 500,000 bacterial isolates from 217 sites in 63 countries since 2002. This data can help to curb the development of AMR by informing adequate treatment plans and prescribing guidelines that ensure antibiotics are used appropriately.

04.

We need to think beyond human health.

The challenge of AMR is multifaceted, and we believe a One Health approach to creating policies is critical to attain optimal health for people, animals and our environment.

When it comes to animal health, vaccines should be considered a first line of defense against bacterial and viral diseases. By preventing diseases, vaccines can help minimize the need for antibiotics. MSD Animal Health is one of the largest manufacturers of animal health vaccines, supplying over 100B doses each year. We are also engaged in collaborative efforts to ensure new and existing antibiotics are effective now and in the future for all species.

Protecting the environment through responsible manufacturing is another key component of the One Health approach. To combat rising levels of antibiotics in the environment, we have committed over $100 million to ensure factory discharges do not present a risk to human health or the environment. We also worked with our partners in the AMR Industry Alliance to inform science‐based manufacturing targets to help ensure robust scrutiny of industry manufacturing supply chains.

05.

The time to act against AMR is now.

We have received ample warning signs of the dangers of AMR. With collaboration across the scientific community and policymakers, it is preventable.

We all have a role to play as we look ahead to prepare for the next health crisis. We know that without action, AMR will have significant global consequences. We must act now to put measures in place to ensure we have the antibiotics we need for our generation and those to come.

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Our team

Walking the Talk: Lunch & Learn about HPV

Prevention starts with us! To mark International HPV Awareness Day, we met with gynecologist Dr. Alina Staikov for a Lunch & Learn. During the meeting, we had the opportunity to learn about the impact human papillomavirus (HPV) can have on our health and how we can protect ourselves and our loved ones from the viruses and certain cancers it causes.

31 March 2023

MSD employees at the Lunch & Learn about HPV with Dr. Alina Staikov

In celebration of International HPV Awareness Day on March 4, our Leadership Team invited all MSD employees to a Lunch & Learn with Dr. Alina Staikov. She is a gynecologist committed to the fight against cancer and is dedicated to education, treatment, prevention and early detection of the disease.

What does cancer have to do with HPV? Human papillomaviruses can cause cancer in some cases. The good thing is, if you are informed, you can protect yourself from HPV, prevent HPV-related cancers or get early treatment for them!

At MSD, we are committed to the prevention and early detection of cancer

As one of the leading pharmaceutical companies in oncology, we don’t just focus on educating the public – we live by what we say. This is why we regularly organize internal events to educate ourselves further on pertinent subjects – in this case about HPV and how it impacts health. More than 50 colleagues from all Swiss subsidiaries took the opportunity to learn from Dr. Staikov and ask their questions.

HPV can cause certain cancers

Dr. Staikov presented key facts about HPV. Among the other information she provided, she explained that these viruses are common and even teenagers should know about them, because even they can become infected. She explained that almost everyone will come into contact with HPV during their lifetime and what can happen if the virus does not go away on its own. This is the specific reason why Dr. Staikov focused on the options of early prevention and detection. After her lecture, we were afforded the opportunity to ask questions, making the event interactive and vibrant. What is the message we took away? Read the next section!

Five facts about HPV that everyone should know

Human papillomavirus (HPV) is common and can occur in teenagers and adults.
People are infected with HP viruses through person-to-person contact involving the skin and mucous membranes.
HP viruses can cause certain cancers and precancerous tissue abnormalities.
The most common HPV-related cancers include cervical cancer, anal cancer, and oral and pharyngeal cancers.
Safer sex and vaccination can help prevent certain HPV-related diseases.

“Getting the information to the people is the most important thing. If they are not informed, they can’t make decisions and they don’t have choices.“

The stage at the Lunch & Learn about HPV — At the event

MSD employees — Applause for Dr. Staikov

The event was a great opportunity for us to learn as a team and live by MSD culture.

Would you like to know more about HPV?

More information for parents, women, and men

Discover more

Want to know more about cervical cancer?

More information about the disease and treatment options

Information for women
Information for healthcare professionals

Mutter und Tochter laufen nebeneinander Arm in Arm

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Our commitment

Pulmonary hypertension

Every single life motivates us, day after day, to give our best.

Pulmonary hypertension is a chronic disease that can be life-threatening if left untreated. At MSD, we are committed to people who are affected by this disease.

Pulmonary hypertension (PH) is a chronic disease characterised by increased blood pressure in the pulmonary circulation. It may lead to a significant impairment of physical capacity and can be life-threatening if left untreated. There are various treatment options that aim to alleviate symptoms, stop progression of the disease and maintain the highest possible quality of life.

Find out more

Our commitment in the area of pulmonary hypertension

For over

years committed to improving the lives of patients in Switzerland

In the year

2013

introduction of the first soluble guanylate cyclase (sGC) stimulator for PH in Switzerland

Active since

2016

in longstanding partnerships and projects

Our partnerships and projects

Collaboration with the Schweizerische Gesellschaft für Pulmonale Hypertonie [Swiss Society for Pulmonary Hypertension] (SGPH)

The SGPH is panel of experts that for more than 20 years has bundled all findings about pulmonary hypertension into one efficient network. We have supported the SGPH for years in different projects and initiatives.

Cooperation with patient organisations

We have been involved for years in collaborative partnerships with patient organisations and the Swiss PH Society for people with pulmonary hypertension.

Continuing education events and conferences

MSD regularly takes part in the conference of the Schweizerische Gesellschaft für Pneumologie [Swiss Society for Pulmonology] (SGP) and supports continuing education events for physicians in order to help clarify pulmonary hypertension and its treatment.

Clinical Research

For almost 130 years, we have conducted research worldwide to contribute to better health for our society with our medications and vaccines, for today and future generations. In Switzerland, MSD is currently conducting 42 clinical studies in different areas of therapy (as of 10/2023).

Find out more

Information and education

Especially in November, during Pulmonary Hypertension Awareness Month, and on 5 May, World Pulmonary Hypertension Day, we raise awareness of the disease and the importance of early detection among the general public.

"The sooner pulmonary hypertension is diagnosed and treated, the sooner a patient can benefit from an improvement in the quality of his or her life. With our commitment, we wish to contribute to the clarification and early detection of the disease".

Claudia Kimmich

Senior Customer Engagement Specialist Pulmonary Hypertension, MSD Schweiz

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