Von Hippel-Lindau community

Here's a selection of information from patients & professionals to better understand Von Hippel-Lindau.

Von Hippel-Lindau resources

Von Hippel-Lindau Frequently Asked Questions

Here are some of the most frequently asked questions and their answers:

If you are a patient or carer with a question about living with VHL, about treatments, or other relevant information please email your question to [email protected] and we will put it to the specialists who have agreed to answer your questions from time to time.

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When should one consider genetic counseling?

If VHL disease is suspected, genetic counseling followed by genetic testing could provide clarity.
Comprehensive genetic counseling is needed to inform the person looking for advice in such a way,...

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When should symptoms be considered for VHL disease?

The presence of a tumor does not immediately indicate the presence of VHL. It is also possible that this is a sporadic tumor, ie a tumor that arose independently of any inheritance.

In these cas...

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What are the consequences of genetic testing?

If test results show that there has not been any VHL disease in the family, there does not need to be any further testing in this manner. Also, no additional action is needed for the other members ...

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What is genetic testing?

Following genetic counseling, genetic testing can be performed. At the same time an alteration of the VHL gene is searched for in the blood. It is very important to hire an experienced laboratory, ...

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Von Hippel-Lindau Patient Groups

These are patient organisations that have experience and expertise in Von Hippel-Lindau. They are supporters of this website. Contact them for more information on their activities.

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  • VHL Family Alliance International

    The VHL Family Alliance is a 501(c)3 non-profit public charity dedicated to improving diagnosis, treatment, and quality of life for individuals and families affected by von Hippel-Lindau disease and related tumor conditions. In addition to our work in the United States we cooperate with affiliate groups throughout the world to expand our knowledge about VHL, learn how VHL may be different in different environments, and work together to find a cure.

    Contact VHL Family Alliance International

  • German Assoc. for VHL Families

    The objective of the Hippel-Lindau(VHL) betroffene Familien e.V. association is to improve the living circumstances of people affected by VHL and their families.

    Contact German Assoc. for VHL Families

  • Danish Assoc. for VHL

    Foreningen for von Hippel-Lindau Patienter og deres pårørende Von Hippel Lindaus sygdom en genetisk betinget tumor sygdom, en ændring i VHL tumor-supressor genet, hvilket gør at patienten har en forøget risiko for at udvikle tumorer i forskellige organer livet igennem. Foreningen for von Hippel-Lindau patienter og deres pårørende har til formål at støtte VHL patienter og deres familier. Foreningen deltager i både nationalt og internationalt arbejde og samarbejder med læger og videnskabsmænd. Foreningens formål: 1)At yde støtte til personer med von Hippel-Lindau’s sygdom og til deres pårørende i form af information om sygdommen samt information om psykologisk, medicinsk og genetisk rådgivning. 2)At udbrede kendskabet til von Hippel-Lindau’s sygdom til gavn for Von Hippel-Lindau’s sygdoms patienter. 3)At udbrede kendskabet til von Hippel-Lindau’s sygdom overfor myndighederne og sundhedsvæsenet. 4)At fremme interessen for forskningen i relation til von Hippel-Lindau’s sygdom 5)At opbygge, knytte og vedligeholde et lægefagligt råd som kan virke som rådgiver for foreningen. 6)At udvikle og vedligeholde nationale og internationale netværk med søsterorganisationer, paraplyorganisationer, sundhedsvæsener og lignende. 7)At sikre at Foreningen er uafhængig af kommercielle og politiske interesser.

    Contact Danish Assoc. for VHL

  • Alianza española de familias de VHL

    Nuestros principales objetivos como asociación son: •Conseguir que se realice el protocolo de seguimiento recomendado a nivel internacional - y que viene recogido en el Manual VHL - a todo afectado por la enfermedad de von Hippel-Lindau, independientemente de su edad. •Que las Administraciones públicas reconozcan y acrediten oficialmente a los médicos que conocen la enfermedad y que llevan años tratándonos, para que cualquier afectado de cualquier punto de España pueda acudir a ellos sin los problemas que actualmente tenemos. Dirección física de la sede: Alianza Española de Familias de Von Hippel-Lindau Centro Civico Rogelio Soto (Apartado número 5) - C/ Campoamor 93/95 Código Postal: 08204 - Sabadell (Barcelona) - Teléfono: 93 712 39 89 e-mails: [email protected] Presidenta Susi Martínez Gómez Teléfono: : 616 050 514 / e-mail: [email protected] Vicepresidenta Dra. Karina Villar Gómez de las Heras Teléfono: 607 680 759 / e-mail: [email protected] Coordinadora de la Alianza en Madrid: Sherezade Gonzalez Hernandez e-mail: [email protected]

    Contact Alianza española de familias de VHL

  • VHL France

    Le siège social est situé à l'adresse suivante : Les ANCOLIES ANGON 74290 TALLOIRES Téléphone/fax : 04 50 64 15 65 Nous écrire : [email protected] VHL France est une association à but non lucratif. L’Association a pour but -de regrouper les personnes atteintes de la maladie de von Hippel-Lindau (VHL), leurs familles, et tous ceux qui le souhaitent, afin de rompre leur isolement, les informer de l’évolution du ou des traitements actuels, partager les informations concernant la maladie et de leur apporter un soutien moral, administratif et de tout autre nature. -soutenir la recherche médicale VHL -la tenue d’assemblées de travail, pouvant aider à la réalisation de l’objet, incluant l’usage de l’internet. -d’établir des relations avec les autres associations ayant un rapport avec le VHL. VHL France est adhérente de l'AMR et en relation étroite avec VHL Family Alliance International

    Contact VHL France

  • A Magyar VHL Társaság

    A Magyar VHL Társaság (Hungarian VHL Society) A Magyar VHL (von Hippel-Lindau) Társaság 1999.-ben mint közhasznú társadalmi szervezet került bejegyzésre. Tagjai érintettek és orvosok. A Társaság feladata a VHL szindrómával élo emberek felkutatása, felvilágosítása és rendszeres kontroll vizsgálatainak, újabban genetikai tesztelésének megszervezése. Tájékoztató füzetet jelentettünk meg az örökletes betegségekrol. A VHL szindróma egy nagyon ritka (1/100 000) genetikai rendellenesség meglétét jelenti, aminek a betegségként történo megjelenése (manifesztálódása) bármelyik életkorban (5 és 65 év között) bekövetkezhet. A betegség jellemzoje a véredények abnormális burjánzása különbözo szervekben, pl. szem, kisagy, gerinc, mellékvese (pheochromocytoma), vese. Általában sebészi beavatkozást igényel, ami, ha megfelelo idoben és kello szaktudással történik, akkor azt követoen az érintett tünetmentes normális életet folytathat. A VHL szindróma örökletes, ezért célszeru a beteg hozzátartozóit is megvizsgálni. Genetikai vizsgálat a SE 2. sz. Belklinikáján és a Debreceni Egyetem Ritka Betegségek Tanszékén kezdeményezheto. A genetikai vizsgálatnak két szempontból van jelentosége. Az egyik az, hogy - mivel a betegség autoszomális domináns módon öröklodik - ha az egyén nem örökölte a hibás gént, akkor az már az o utódaiban sem fog újra elofordulni, tehát a család "mintegy" megszabadul ennek a megbetegedésnek a lehetoségétol. A másik szempont viszont az, hogy ha a hozzátartozó génhordozó, akkor célszeru rendszeres orvosi ellenorzo vizsgálatokon részt vennie. A fenti okok miatt rendkívül fontos lenne egy nemzeti adattár létrehozása a VHL szindrómával élo emberekrol. Az adattárral, ill. az adattár létrehozására tervezett kérdoívre vonatkozóan birtokunkban van az adatvédelmi biztos pozitív állásfoglalása. Amennyiben az érintett személy hajlandó kitölteni a kérdoívet, forduljon a Társaságunkhoz. A Magyar VHL Társaság alapító tagja a RIROSZ-nak (Ritka és Veleszületett Rendellenességgel élok Országos Szövetsége; RIROSZ, www.rirosz.hu) és tagja az USA-ban muködo VHL Family Alliance-nak (http://www.vhl.org). A Magyar VHL Társaság (http://www.vhl.hu) postai címe: Képviselo: Süliné Dr. Vargha Helga Cím: 1118 Budapest Szittya u. 8 Telefon: 06-1-365-0110 Fax: +36-1-365-0110 E-mail: [email protected]

    Contact A Magyar VHL Társaság

  • Dutch VHL Organization

    The Dutch VHL Family Alliance is a non profit organization for all Dutch people who is involved in any way involved with the VHL syndrome. This can be a partner, parent, family member or sympathizer. VHL is a hereditary disease in various part of the body, sometimes simultaneously tumors may develop. This concerns the small brains, spinal cord, eyes, kidneys and adrenal glands. The association hopes to make a contribution to the knowledge about and control of the VHL syndrome and the effects of the syndrome.

    Contact Dutch VHL Organization

  • VHL Contact Group U.K.

    Contact Mary Weetman. Phone 01204 886112 or e-mail: [email protected] The objectives of our group are: 1) To give relief to patients and their families suffering from V.H.L. 2) To give relief in times of financial distress to members and their dependants. 3) To encourage, promote and assist research into V.H.L and other related conditions.

    Contact VHL Contact Group U.K.

  • Argenina VHL Assoc.

    ASOC. ARGENTINA DE FLIA. DE VON HIPPEL-LINDAU (AAF-VHL) La Asociación Argentina de Von Hippel-Lindau, fue creada el 2 de Enero del 2008 por un grupo de Familiares y Amigos que no dudaron en sumarse a mi problemática, nuestra misión es trabajar por la Contención, lograr atención adecuada, mejorar la calidad de vida de las familias Afectadas y como ocurre en todo el mundo mucho trabajo en la Difusión de Síndrome VHL. En esta parte del Mundo no se cuenta con apoyo del Estado, Nacional, Provincial y Municipal, todos los gastos salen de nuestro propios recursos, pero contamos con el apoyo de un Grupo de políticos que nos han ayudado a avanzar en la concreción de solicitudes presentadas al Congreso de la Nación y al Cámara de Diputados de la Provincia de Buenos Aires. La Impresión de los 1.000 Manuales VHL-Adultos, la 1° Jornada de Difusión VHL de la República Argentina , fuimos invitados a Participar en los Congresos de Nación y Provincia de Buenos Aires, a participar en la discusión de leyes de Discapacidad como Ley Accesibilidad, del Proyecto: Defensor de las Personas con Discapacidad y La Discapacidad una Cuestión de Derechos. También VHLFA, por una cuestión idiomática nos deriva las personas de Latinoamérica y el Caribe que se conectan en su web, para realizar la orientación y contención, a las posibles Familias Afectadas VHL, trabajo que realizamos con mucho gusto y solidaridad. Trabajamos apuntando a lo Social y lograr tener 1 Hospital de Referencia u Hospitales de Referencia Publicos, Nacionales y Gratuitos, para cubrir las necesidades de las Familias Afectadas VHL, ya que Nuestro País, cuenta con un alto índice de pobreza y de clase media trabajadora, es a esos sectores a los que apuntamos a protegemos en nuestro trabajo. El miércoles 16-02 se Realizara la reunión tan esperada en la Ciudad de Buenos Aires, donde se determinara si el Hospital Publico “Juan A. Fernández”, que cuenta con el equipo de Neurocirujanos Especialistas VHL, la Tecnología y las Instalaciones adecuadas para ser nuestro Hospital de Referencia Nacional, será solo de Neurocirugía o Cubrirá otras especialidades, esto también es con la ayuda de nuestros especialistas, el Dr. Javier Gardella Jefe de Neurocirugía y el Dr. Francisco A. Mannara. Presidente: Carlos Alberto Fredes. Domicilio: 70 N° 3566 Necochea (7630)- Provincia: Buenos Aires-Argentina. TE: 54-2262-15647129 / 54-2262-528735; [email protected] [email protected]

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Von Hippel-Lindau Documents

Resources, documents and detailed informations on Von Hippel-Lindau. In this section you can download brochures, ask for printed documents or find useful links.

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Von Hippel-Lindau Articles

Most recent articles:

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Orphanet article on Von Hippel Lindau (2009)

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangiobla...

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Von Hippel-Lindau Events

Most recent events:

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  • January 2011

  • Dutch VHL Organization

    From 1 January to 31 December 2011

    A current listing of meetings national and worldwide is maintained at http://www.vhl.nfk.nl/activiteiten

    More info

  • VHL Family Alliance International

    From 1 January 2011 to 1 January 2012

    A current listing of meetings worldwide is maintained at: http://vhl.org/meetings

    More info

  • 2011 Events in Germany and Switzerland

    From 1 January 2011 to 31 December 2012

    Upcoming events from German Association for VHL Families Termine 2011: 05. März: regionales Treffen in Essen 09. April: Mitgliederversammlung und Informationsveranstaltung VHL-Schweiz 21. Mai: regionales Treffen in Berlin 21. Mai: regionales Treffen in Neufahrn bei München 21. Mai: regionales Treffen in Waldkirch bei Freiburg 14. bis 16. Okt.: Mitgliederversammlung und Informationsveranstaltung in Stuttgart

    More info

  • December 2011

  • International Day of Persons with Disabilities

    On 3 December 2011

    The annual observance of the International Day of Persons with Disabilities on 3 December was established by the International Year for Disabled Persons (1981). The Day aims to promote a better understanding of disability issues with a focus on the rights of persons with disabilities and gains to be derived from the integration of persons with disabilities in every aspect of the political, social, economic and cultural life of their communities. The goal of full and effective participation of persons with disabilities in society and development was established by the World Programme of Action concerning Disabled Persons, adopted by the United Nations General Assembly in 1982.

    More info

  • February 2012

  • RE (ACT) Congress

    From 28 February to 2 March 2012

    International Congress on Research of Rare and Orphan Diseases Basel, Switzerland

    More info

Von Hippel-Lindau community news

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    Probe ablation as salvage therapy for renal tumors in von Hippel-Lindau patients: The Cleveland Clinic experience with 3 years follow-up.
    News, published 3 months ago

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    BACKGROUND: To evaluate the efficacy and safety of probe ablative therapy as salvage treatment for renal tumor in von Hippel-Lindau (VHL) patients after previous partial nephrectomy (PN).

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    Ana quiere seguir trabajando, pero llegar hasta su puesto es imposible
    News, published 5 months ago

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    Mi hermana tiene una enfermedad rara, oncológica, progresiva, altamente incapacitante e invalidante, llamada VHL (von Hippel-Lindau). Tiene 37 años, y desde que fue diagnosticada en 1995 (con 21) ha sufrido 4 neurocirugías, una cirugía por cáncer renal, ha perdido la visión de un ojo y la audición de un oído. La última neurocirugía

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    Percutaneous radiofrequency ablation of renal cell carcinomas in patients with von Hippel Lindau disease previously undergoing a radical nephrectomy or repeated nephron-sparing surgery.
    News, published 6 months ago

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    Abstract

    Background Radiofrequency ablation (RFA) is accepted as a minimally invasive treatment of renal cell carcinoma (RCC). However, RFA is not fully evaluated for treating RCC in patients with von Hippel Lindau (VHL) disease who cannot undergo surgery due to serious postoperative morbidity or mortality. Purpose To evaluate the role of RFA of RCC in patients with VHL disease previously undergoing renal surgery. Material and Methods Percutaneous RFA...

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    Accrington woman tells of battle with rare disease
    News, published 6 months ago

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    Sandra Kenworthy, 41, only discovered she had Von Hippel–Lindau (VHL) disease in 1996, while seven months pregnant with her third daughter...

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    Soignée pour une maladie rare, elle se bat contre la douleur et la Sécu - Le Progrès
    News, published 6 months ago

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    Von Hippel Lindau disease: A clinical and scientific review
    News, published 7 months ago

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    European Journal of Human Genetics advance online publication, March 9, 2011. doi:10.1038/ejhg.2010.175

    Authors: Eamonn R Maher, Hartmut PH Neumann and Stephane Richard (Source: European Journal of Human Genetics)

    Abstract

    The autosomal dominantly inherited disorder von Hippel–Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.

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    VHL-Rundbrief Februar 2011/VHL Germany Feb. Newsletter
    News, published 9 months ago

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    Direct link to VHL Germany's Feb. Newsletter, use Google Translate to see what's happening in Germany in your language!

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    New England Family Fights Rare Diagnosis - WCVB-TV
    News, published 9 months ago

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    BOSTON -- Andrew Cayer, 25, was born with Von Hippel-Lindau, or VHL, a rare genetic disease where the body grows life-threatening tumors.One in 32,000 people worldwide has it, but according to experts, most don't even know it. Cayer didn't know he had the disease until his symptoms started at age 18.....

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    Phase II Study of Vandetanib in Individuals With Kidney Cancer
    News, published 9 months ago

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    Status: Recruiting, Condition Summary: Renal Cancer; Von Hippel Lindau


    This study will examine the effectiveness of an investigational drug called ZD6474 (also known as vandetanib or ZACTIMA). Vandetanib is an experimental drug that is designed to prevent the growth and development of new blood vessels on tumors and to prevent the direct growth of cancer cells. It has been tested in a number of clinical trials on adults with cancer, but the U.S. Food and Drug Administration has not specifically approved it as a cancer treatment. The purpose of this investigational study is to better understand how vandetanib affects humans who have kidney cancer related to von Hippel-Lindau (VHL) disease, and to develop tests that may improve researchers' understanding of kidney cancer and its effects.

    Volunteers must be at least 18 years old and must have been diagnosed with kidney cancer related to VHL. Candidates must have a life expectancy greater than three months and must have at least one measurable renal tumor for study purposes. Candidates may not be receiving any other investigational agents or have been treated with an investigational drug within the past four weeks. Candidates who have had surgery, chemotherapy, or radiotherapy within the past four weeks will be excluded from the study. Candidates will be screened with a physical examination and medical history.

    During the study, participants will receive an oral dose of vandetanib once a day for 28 days (a treatment period known as a cycle). Participants will need to return to the National Institutes of Health every two weeks on the same day of the week as the first dose of vandetanib for a series of tests and procedures, including blood and urine tests and an electrocardiogram. Every 12 weeks, computerized tomography (CT) or magnetic resonance imaging (MRI) scans will be done to assess the size of participants' tumors. Participants whose tumors do not grow and who do not have unacceptable side effects may continue to receive vandetanib to maintain the current condition, until researchers conclude the study....

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    Wisconsin woman battles, raises awareness for VHL disease - WXOW.com
    News, published 9 months ago

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    Eau Claire (WQOW)- As a television show sheds light on a rare disease, a local woman opens up about her battle with it. In recent episodes of Grey's Anatomy a patient is fighting Von Hippel Lindau.  The disease has power to cause tumors in almost any part of your body. If undetected, those tumors could lead to vision loss, or heart attack and stroke.......

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