Scribd Logo
Upload

Welcome to Scribd!

  • Biomedfinal

    Uploaded by

    api-285161115
    33 views3 pages
    Von Hippel-Lindau syndrome is a genetic disorder characterized by the formation of tumors and cysts in many parts of the body. It is caused by a mutation in the VHL gene which normally suppresses tumor growth. Symptoms vary depending on the location of growths but can include headaches, sweating, vision problems, and difficulty with coordination or bodily functions. Screenings like eye exams and MRIs are recommended. Treatment involves surgically removing tumors or cysts when they are large, growing quickly, or causing symptoms.

    Original Description:

    Original Title

    biomedfinal (1)

    Copyright

    © © All Rights Reserved

    Available Formats

    PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    Report this Document
    Von Hippel-Lindau syndrome is a genetic disorder characterized by the formation of tumors and cysts in many parts of the body. It is caused by a mutation in the VHL gene which normally suppresses tumor growth. Symptoms vary depending on the location of growths but can include headaches, sweating, vision problems, and difficulty with coordination or bodily functions. Screenings like eye exams and MRIs are recommended. Treatment involves surgically removing tumors or cysts when they are large, growing quickly, or causing symptoms.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    33 views3 pages

    Biomedfinal

    Uploaded by

    api-285161115
    Von Hippel-Lindau syndrome is a genetic disorder characterized by the formation of tumors and cysts in many parts of the body. It is caused by a mutation in the VHL gene which normally suppresses tumor growth. Symptoms vary depending on the location of growths but can include headaches, sweating, vision problems, and difficulty with coordination or bodily functions. Screenings like eye exams and MRIs are recommended. Treatment involves surgically removing tumors or cysts when they are large, growing quickly, or causing symptoms.

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 3

    Symptoms:

    SymptomsofVonHippelLindau Hemangioblastoma:
    syndromecanvarydependingonthelocation
    ofthegrowths.

    PheochromocytomaSymptoms:

    VonHippelLindau
    Syndrome

    (Ararenoncanceroustumorontheadrenalgland)
    Highbloodpressure
    Sweating
    Headache
    Rapid/irregularheartbeat
    Anxiety
    Paleskin
    Dizziness
    Tremors
    Weightloss

    OtherNames:
    AngiomatosisRetinae
    CerebroretinalAngiomatosis
    HippelLindauDisease
    VHLSyndrome

    HemangioblastomaSymptoms:
    (Abloodvesseltumorofthecentralnervoussystem)
    Difficultywithmusclecoordination
    Decreasedfeelinginarms
    Difficultywithbladder/bowelfunction
    Difficultyswallowing
    Difficultywalking
    Doublevision
    Vomiting
    Decreasedfeelinginarms

    Causes:
    ThecauseofVonHippelLindau
    SyndromeisamutationoftheVHLgene.
    VHLisatumorsuppressinggene,meaning
    thatitkeepscellsfromgrowinganddividing
    rapidly.Theresultofthismutationisthe
    formationoftumorsandcyststhatare
    characteristicofVonHippelLindau
    Syndrome.

    Pheochromocytoma:

    VonHippelLindauSyndromeisagenetic
    disordercharacterizedbytheformationof
    tumorsandcysts(fluidfilledsacs)inmany
    differentpartsofthebody.

    CanitbeInherited?
    MutationsoftheVHL
    geneareinheritedinanautosomaldominant
    pattern,meaningthatonecopyofthe
    mutatedgeneineachcellisenoughto
    increasethedevelopmentoftumorsand
    cysts.In20%ofcases,though,thealtered
    geneiscausebyanewmutationthat
    occurredduringtheformationofthe
    reproductivecells(egg/sperm).

    WhoisAffected?
    Anestimated1in36,000
    peopleareaffectedbyVHL.

    HowisitDiagnosed?
    Ifapersonhasa
    familyhistoryofVHL,theyarealsosuspected
    ofhavingitistheyshowanyonesymptom.
    Genetictestingformutationsisalsoavailable
    forpeoplewhoaresuspectedofhavingVHL.

    Whataretheestimatedcancerrisks?
    The
    riskofkidneycancerinfamilieswithahistory
    ofVHLisincreasedby40%.

    WhatarethescreeningoptionsforVHL?
    Yearlyeyeexaminationstocheckfor
    retinaltumors.
    Yearlyabdominalultrasounds.
    MRIofthebrainandspineevery2
    years.
    Yearlyphysicalexaminations.

    Treatment:
    Surgeryisthemaintreatmentfor
    VHLDisease.Also,treatmentdependsonthe
    problemsthediseasecause.

    Pheochromocytoma:
    Surgeryisthemaintreatmentforthistypeof
    tumor.Removalofthepheochromocytoma
    mayrequiretakingouttheentireadrenal
    gland(adrenalectomy).
    Hemangioblastoma:
    Ifthehemangioblastomaissmallorslow
    growing,itmaynotneedtreatment.Tumors
    thatarelarge,fastgrowingorsymptom
    causingaresurgicallyremoved.
    KidneyCancer:
    Kidneytumorsaretypicallyremovedat
    around3cmindiameteroraregrowing
    quickly.
    Apartialnephrectomy(removalofpartofthe
    kidney)maybeperformedtoremovethe
    tumor.Radiofrequencyablation(using
    radiofrequencywavestodestroythetumor)
    orcryoablation(usingextremecoldtoremove
    thetumor)arealsooptions.
    EyeTumors:
    Itisimportantthateyeproblemscausedby
    VHLreceiveearlydiagnosisandtreatmentto
    helplowerthechanceofvisionloss.Tumors
    inverydelicateareasusuallyarenottreated
    becauseofthedamageitmaycause
    PancreaticCystsandCystadenomas
    :
    Cystsinthepancreasdonotusuallyrequire
    treatment.Thecystmaybeshrunkbyusinga
    needletodrawoutfluid.

    ImagesshownbyanMRI:

    Tumoronthekidney:

    You might also like