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

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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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Knowledge

Health protection through vaccination

Do you know diseases that vaccination can help to prevent? Here you can find out more.

12.07.2023

Vaccines help protect against diseases by very cleverly inducing immunity in our bodies. They present our bodies with a substance recognizable as the infection – for example a virus or bacterium constituent. This tricks the body’s immune system into producing antibodies and an immune memory, which then provide protection if exposure to the actual infection occurs. This immunity may be retained for years, decades, or even a lifetime following vaccination.

The following overview shows some diseases and infections that vaccination can help to prevent (as of June 2023):

01.

Human papillomaviruses

Human papillomaviruses (HPV) are widespread. To date, more than 200 types of the virus are known. A distinction is made between high-risk and low-risk HPV types. The latter can cause genital warts in women and men. These are harmless but rather unsightly and annoying skin changes (nodules) in the genital area. The high-risk types can trigger forms of cancer in women and men, such as cervical cancer or vaginal, penile, anal, and throat cancers.

02.

Hepatitis B

Hepatitis B is an inflammation of the liver (jaundice), which is caused by the hepatitis B virus (HBV). The virus is transmitted via the blood or body fluids of an infected person (e.g. sexual intercourse). Hepatitis B is highly contagious. The infection is considered to be chronic if the virus is in the blood for longer than six months. WHO estimates that two billion people are infected by the hepatitis B (HBV) virus worldwide. 257 million of these are already chronically ill; over 880,000 people die every year as a result. In Switzerland, about 44,000 people live with hepatitis B.

03.

Pneumococcal Disease (PD)

PD is caused by a bacterium called Streptococcus pneumoniae, also known as pneumococcus. Pneumococcal diseases occur sporadically worldwide – outbreaks are rare. Several million people are affected each year and over one million of them die, many despite timely antibiotic treatment. The burden of disease is particularly high for infants under 2 years of age,among those aged 65 years and older and people of all ages with chronic conditions such as chronic heart disease or chronic respiratory disease. In Switzerland, there are about 1000 severe pneumococcal infections per year, mostly pneumonia, less frequently blood poisoning or meningitis. Children under two years of age and persons over 65 years of age are mainly affected. A total of around 100 people die each year, of whom around 80% are over 65 years of age.

04.

Chickenpox

Chickenpox is an infectious disease caused by the highly contagious varicella zoster virus (VZV). The virus causes a blister-like rash, itching, tiredness and fever. Chickenpox is most common in children but anyone who has not had chickenpox can get the disease.

05.

Measles

Measles is a highly contagious viral infection that can occur at any age. It begins with fever, fatigue, abdominal pain, photophobia, inflammation of the oral mucosa and is often accompanied by cough, colds and sore throat. Uncomplicated cases heal quite quickly and without permanent consequences. However, there is a risk of complications such as brain inflammation (encephalitis; 1 per 1000 cases), pneumonia (measles pneumonia; 10 to 60 per 1000 cases) or middle ear inflammation (otitis media). Sometimes measles complications lead to death.

06.

Mumps

Mumps is a contagious disease caused by a virus. It typically starts with headache, discomfort and fever, followed by the characteristic swelling of the parotid glands. Mumps is generally a mild children’s disease that mainly affects children between the ages of five and nine. However, adults can also become infected with mumps, which can be associated with serious complications.

07.

Rubella

Rubella is a contagious, generally mild viral infection that occurs most often in children and young adults. While the illness is generally mild in children, it has serious consequences in pregnant women causing fetal death or congenital defects known as congenital rubella syndrome (CRS). The rubella virus is transmitted by airborne droplets when infected people sneeze or cough. Humans are the only known host.

More information on protecting health through vaccinations: BAG Vaccinations & Prophylaxis

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Knowledge

Dr. Maurice Hilleman: “The father of modern vaccines”

25.05.2023

Vaccines are part of MSD’s history and are closely associated with Dr. Maurice Hilleman (1919-2005), the father of modern vaccine science. During his nearly 30-year career at MSD, he developed more than 40 vaccines for humans and animals. This legacy continues today thanks to our dedicated researchers.

The story of modern day vaccines began in 1796 when Dr. Edward Jenner inoculated 8-year-old James Phipps with cowpox as a way to protect him from smallpox. Jenner used the term “vaccination,” “vacca” being Latin for “cow.” In fact, it has been recognized for centuries that some diseases never reinfect a person after recovery. Smallpox was the first disease people tried to prevent by intentionally inoculating themselves with infected matter.

Dr. Edward Jenner inoculating 8-year-old James Phipps with cowpox.

Eight decades after Jenner published his findings, Louis Pasteur developed the first live attenuated bacterial vaccine. Attenuation is a process that weakens the bacteria or virus in a vaccine so it is less likely to cause disease, while still triggering an immune response similar to the natural infection. It would take many more decades for advances in basic and clinical research to make it possible for scientists to understand viruses well enough to begin developing vaccines that help protect against viral diseases.

DR. MAURICE HILLEMAN

The scientists who made giant strides in the fight against viral diseases included Jonas Salk and Albert Sabin. Dr. Maurice Hilleman, who led MSD’s Department of Virus and Cell Biology from 1956 to 1984, also belonged to that distinguished group of vaccine pioneers. Credited with helping to develop more than forty vaccines, Dr. Hilleman’s passionate commitment continues to inspire scientists in medical research laboratories to this day.

Dr. Hilleman was born and raised on a farm in Montana. It was a hard life, but a farm background was a great foundation for his later work. “When you are brought up on a farm, you have a lot of general knowledge,” he said. After graduating from the University of Chicago with a doctorate in microbiology and chemistry, Hilleman chose to work at a pharmaceutical company instead of academia.

Despite his many accomplishments, including helping to develop more than 40 human and animal vaccines, Dr. Maurice Hilleman’s name is virtually unknown by the general public and press. Yet his impact on public health is undeniable.

"Since Pasteur, he's done more for preventive medicine than anyone else."

Dale C. Smith

Chief historian at the Uniformed Services University of the Health Sciences in Bethesda, MD

"His commitment was to make something useful and convert it to clinical use. Maurice's genius was in developing vaccines, reliably reproducing them, and he was in charge of all pharmaceutical facets from research to the marketplace."

Paul Offit

Chief of infectious diseases, Children's Hospital of Philadelphia and Hilleman's biographer

In 1988, President Ronald Reagan awarded the National Medal of Science to Dr. Hilleman, and in 1997, he was honored with The Albert B. Sabin Gold Medal Award. Dr. Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases has called Dr. Hilleman one of the true giants of science, medicine and public health in the 20th century.

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EN

Content Topic: Knowledge

What is Von Hippel-Lindau disease?

VHL disease is rare

Cause of the disease

In most cases, VHL disease is inherited

Clinical presentation

Possible medical findings in VHL disease:

Diagnosis

Therapy

Information for medical professionals

Information for patients

What is pulmonary hypertension?

Diagnosing pulmonary hypertension is not easy

The initial symptoms of pulmonary hypertension may include:

In an advanced stage, these complaints may occur:

Treatment of pulmonary hypertension is done by a team of specialists

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

Our commitment

Support for patients

Health protection through vaccination

The following overview shows some diseases and infections that vaccination can help to prevent (as of June 2023):

Dr. Maurice Hilleman: “The father of modern vaccines”

"Since Pasteur, he's done more for preventive medicine than anyone else."

"His commitment was to make something useful and convert it to clinical use. Maurice's genius was in developing vaccines, reliably reproducing them, and he was in charge of all pharmaceutical facets from research to the marketplace."