NEWLY DIAGNOSED? Follow this link to help you and your medical team understand Proteus syndrome.
Update on COVID-19 Vaccine and Proteus syndrome
Update: The PSF recommends following your doctor and the CDC's recommendations on the Covid 19 Vaccine.
The COVID-19 pandemic has changed much of our lives over the past many months. Since the earliest reports of the infection we have learned a lot about the disease and the virus that causes it, SARS coronavirus 2 (SARS-CoV-2). However, it is also important to recognize that much about the illness remains unknown and researchers continue their efforts to better understand, treat, and prevent the infection. We would like to provide you with a few updates about COVID-19 and Proteus syndrome.
In March, we recommended that those with lung disease of Proteus syndrome are at high risk of severe infection and should take precautions as recommended by the Centers for Disease Control and Prevention (CDC). At that time, the masks for people without symptoms was not a recommendation, but this has changed. Masks are now recommended for anyone in a public setting and when around people who don’t live in your household. The CDC maintains a frequently updated website we encourage you to follow and stay informed. https://www.cdc.gov/coronavirus/2019-ncov/index.html
Over the past many months, we have learned that COVID-19 is a complex disease affecting many parts of the body beyond the lungs. One of these is an increased risk of blood clots in adults admitted to the hospital for COVID-19. Doctors have reported as many as one third to one half of people with COVID-19 who required intensive care or ventilators developed blood clots. Because of this risk of clotting, many in the medical and research community are considering the use of blood thinners as an way to prevent these serious complications. There are ongoing clinical trials to help us learn more about using blood thinners to prevent blood clots caused by COVID-19 in people who don’t have Proteus syndrome.
As you all well know, individuals with Proteus syndrome are at an increased risk of blood clots, especially after surgery or when immobile for long periods of time. When multiple risk factors are present, such as when someone with Proteus syndrome has surgery, we recommend blood thinners to prevent blood clots. It is our opinion that if someone with Proteus syndrome is admitted to the hospital for COVID-19, they are at high risk of blood clot and a blood thinning medication should be used to prevent blood clots. This medication is called enoxaparin and is given as an injection under the skin twice a day. If these medications are not safe for any medical reasons then we recommend intermittent pneumatic compression devices (inflatable boot-like devices that compress and relax on one’s calves), and other appropriate measures.
We have written in more detail about this recommendation in the American Journal of Medical Genetics. The NIH team is available to physicians treating patients with Proteus syndrome who may encounter these issues. We are on call and available through the NIH page operator at 301-496-1211 and have the operator ask for Dr. Biesecker or Dr. Ours.
We will work with Kim Green to provide updates if information significantly changes, but again, your most reliable source of up to the minute information on COVID-19 is the CDC.
Wash your hands, wear your mask, and stay safe,
Dr. Christopher Ours, MD
Dr. Leslie Biesecker, MD
The COVID-19 pandemic has changed much of our lives over the past many months. Since the earliest reports of the infection we have learned a lot about the disease and the virus that causes it, SARS coronavirus 2 (SARS-CoV-2). However, it is also important to recognize that much about the illness remains unknown and researchers continue their efforts to better understand, treat, and prevent the infection. We would like to provide you with a few updates about COVID-19 and Proteus syndrome.
In March, we recommended that those with lung disease of Proteus syndrome are at high risk of severe infection and should take precautions as recommended by the Centers for Disease Control and Prevention (CDC). At that time, the masks for people without symptoms was not a recommendation, but this has changed. Masks are now recommended for anyone in a public setting and when around people who don’t live in your household. The CDC maintains a frequently updated website we encourage you to follow and stay informed. https://www.cdc.gov/coronavirus/2019-ncov/index.html
Over the past many months, we have learned that COVID-19 is a complex disease affecting many parts of the body beyond the lungs. One of these is an increased risk of blood clots in adults admitted to the hospital for COVID-19. Doctors have reported as many as one third to one half of people with COVID-19 who required intensive care or ventilators developed blood clots. Because of this risk of clotting, many in the medical and research community are considering the use of blood thinners as an way to prevent these serious complications. There are ongoing clinical trials to help us learn more about using blood thinners to prevent blood clots caused by COVID-19 in people who don’t have Proteus syndrome.
As you all well know, individuals with Proteus syndrome are at an increased risk of blood clots, especially after surgery or when immobile for long periods of time. When multiple risk factors are present, such as when someone with Proteus syndrome has surgery, we recommend blood thinners to prevent blood clots. It is our opinion that if someone with Proteus syndrome is admitted to the hospital for COVID-19, they are at high risk of blood clot and a blood thinning medication should be used to prevent blood clots. This medication is called enoxaparin and is given as an injection under the skin twice a day. If these medications are not safe for any medical reasons then we recommend intermittent pneumatic compression devices (inflatable boot-like devices that compress and relax on one’s calves), and other appropriate measures.
We have written in more detail about this recommendation in the American Journal of Medical Genetics. The NIH team is available to physicians treating patients with Proteus syndrome who may encounter these issues. We are on call and available through the NIH page operator at 301-496-1211 and have the operator ask for Dr. Biesecker or Dr. Ours.
We will work with Kim Green to provide updates if information significantly changes, but again, your most reliable source of up to the minute information on COVID-19 is the CDC.
Wash your hands, wear your mask, and stay safe,
Dr. Christopher Ours, MD
Dr. Leslie Biesecker, MD
Proteus Syndrome Foundation
Welcome to the Proteus Syndrome Foundation (PSF). We are composed of families who connect with each other through the foundation and professionals who work tirelessly to help find effective treatments for Proteus. The PSF provides support through family conferences, family sharing through our (new) PSF Forum on our web page, and grants for families in need of assistance. Proteus syndrome can be an isolating and scary syndrome but as we come together under the PSF umbrella, we will never stand alone.
What is Proteus Syndrome?
Proteus Syndrome is a condition which involves atypical growth of the bones, skin and head, and can lead to a variety of other symptoms. The condition is caused by a genetic mutation in AKT1, an important gene that helps to regulate the growth of cells. Now that genetic testing for the AKT1 mutation is available, it is important to get tested. In the spring of 2019 the PSF will be able to offer this confidential testing to families.
Please contact the Proteus Syndrome Foundation to learn more.
Please contact the Proteus Syndrome Foundation to learn more.
PSF Family ConferenceThe next PSF Family Conference will be held on TBD, 2022. More information coming soon.
Watch the video of Dr. Leslie Biesecker’s 2017 Proteus Syndrome Family Conference presentation on ARQ092:
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Patient Number FivePatient Number Five is a documentary that follows people diagnosed with Proteus Syndrome as they enter clinical trials for a new drug miransertib (formerly called ARQ092). This new drug could be the first approved treatment that patients in critical condition desperately need.
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Contact RegistryThe Proteus Syndrome Foundation Contact Registry will be used to inform individuals with Proteus syndrome and their guardians about:
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Get Involved
Parents |
Clinical Trials |
Donate |
