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Hereditary hemorrhagic telan -giectasia (HHT), also knownas Osler-Weber-Rendu syn-drome, is an autosomal dom-inant disorder that affects blood ves-sels (HHT Foundation International,2010b). Many organs and multiplebody systems are affected by thisblood vessel dysplasia (Mei-Zahav etal., 2006). HHT is characterized by thepresence of epistaxis, mucocutaneoustelangiectases, and arteriovenous mal-formations (AVMs) in solid organs. Inthe United States, about 1 in 5000individuals are thought to have HHT(HHT Foundation International, 2010b).

The age of clinical presentation ofHHT is highly variable among individ-uals and within families with HHT.Some individuals present with epis-taxis prior to their teen years, and oth-ers are diagnosed after a life-threaten-ing event, such as a stroke, seizure,severe anemia, or hypoxemic inci-dent. Because young children rarelypresent with epistaxis or skin findings,nurses and other health care cliniciansmust be aware of HHT and consider it

Continuing Nursing Education

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant bloodvessel disorder characterized by the presence of arteriovenous malformations(AVMs), epistaxis, and mucocutaneous telangiectases. AVMs are present inlungs, brain, liver, and spine. Children and adults share the same manifestations,with epistaxis and skin telangiectases being the most common. Parents oftenseek medical attention for their children after an adult in the family is diagnosed.There is debate whether manifestations of HHT are present at birth or developafter puberty, thus making recommendations for evaluation or screening of chil-dren in families with HHT uncertain. In the authors’ pediatric HHT center, poten-tially life-threatening manifestations of HHT have been identified in asymptomaticchildren under 12 years of age. Treatments for HHT include embolization and sur-gery, laser, and hormone therapy. It is imperative for nurses and other health pro-fessionals to recognize this disease and become familiar with evaluation andtreatment options.

Hereditary Hemorrhagic Telangiectasia:Children Need Screening Too

Lynne A. Sekarski, Lori A. Spangenberg

Objectives and posttest can be found on page 169.

Lynne A. Sekarski, MSN, RN, CPN, is aNurse Clinician, HHT Center of Excellence,St. Louis Children’s Hospital, WashingtonUniversity, St. Louis, MO.

Lori A. Spangenberg, BSN, RN, is a NurseClinician, HHT Center of Excellence, St. LouisChildren’s Hospital, Washington University,St. Louis, MO.

Acknowledgements: The authors wish tothank Karen Balakas, PhD, RN, CNE,Professor and Director of Clinical Research,Barnes-Jewish College, and St. LouisChildren’s Hospital and St. Louis Children’sHospital Foundation for sabbatical support.

Statements of Disclosure: The authorreported no actual or potential conflict of inter-est in relation to this continuing nursing edu-cation activity.

The Pediatric Nursing journal Editorial Boardreported no actual or potential conflict of inter-est in relation to this continuing nursing edu-cation activity.

when a family history is suspicious forsymptoms. Some symptoms of HHTare characteristic of other medicaldiagnoses, including heart and pul-monary disease or a bleeding disorder,making the diagnosis and recognitionof the disease difficult. The HHTFoundation Inter national (2010b)notes most patients with HHT are stillundiagnosed because of the overlap ofsymptoms with other conditions. Thepurpose of this article is to presentsigns and symptoms of HHT so thepracticing clinician can identify thepotential diagnosis and have informa-tion for treatment and referral.

Clinical Manifestations

Epistaxis Epistaxis is the most common

symptom of HHT and is present inover 90% of patients. (Faughnan et al.,2009). Although epistaxis is not usual-ly the presenting symptom in chil-dren, it will develop in most patientsby adolescence, with a median age ofonset at 12 years (Faughnan et al.,2009). Other patients do not developepistaxis until they reach their 40s, atwhich time almost 90% of HHTpatients have nosebleeds.

Epistaxis varies in frequency andseverity among individuals and family

members. For some patients, it can bean occasional annoyance, and for oth-ers, a daily disruption. In the authors’pediatric population, some childrendo not have nosebleeds, some havetwo to three a week or month, and asmall group has three to five per day.Because pediatric patients with HHTunder 10 years of age initially have alower incidence of nosebleeds, the dis-ease or need for screening may gounrecognized by parents and healthcare providers (Mei-Zahav et al.,2006).

Children without nosebleeds orother symptoms of HHT can havearteriovenous malformations in theirlungs or brain that require interven-tion (Mei-Zahav et al., 2006). It can bedifficult for nurses and health careproviders to distinguish abnormalnosebleeds from typical nosebleedsbecause many people without HHThave occasional or bothersome nose-bleeds. Epistaxis is the most bother-some symptom for patients with HHTand can be severe enough to lead toanemia, requiring transfusions, irontherapy, or laser surgery (Shovlin,2009). Investigators are exploring hor-mone therapy and other medicationsas possible treatment modalities forrecurrent nosebleeds that negativelyaffect the quality of life of patientswith HHT.

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Telangiectases Telangiectases are dilated blood

vessels found on the face, hands, lips,tongue, and gastrointestinal (GI) tract(Faughnan et al., 2009). These skinlesions are most commonly referredto as “red spots” (see Figures 1-4).Because many people have red spotson their skin and do not have HHT, itis important for the health care pro-fessional to be aware that red spots arecharacteristic manifestations of HHTand require differentiation frombenign red spots. Children, however,do not characteristically have telang-iectases; many patients with HHT willnot develop these mucocutaneousfindings until 30 or 40 years of age.About 25% of HHT patients willdevelop gastrointestinal (GI) bleedingfrom these dilated vessels in the GItract. Some patients with GI bleedingand associated anemia may requirefrequent surveillance with endoscopyand/or blood or iron transfusions(HHT Foundation International,2010b).

PAVMs with a feeding vessel 3 mmor larger are amenable to embolization(HHT Foundation International,2010b). Embolization of the vessel is aprocedure in which a coil, plug, orglue-like substance is placed in theabnormal vessel. By stopping theblood flow to the abnormal vessel,more oxygenated blood is deliveredthroughout the circulatory system,increasing oxygenation and decreasingsymptoms of hypoxemia. Emboliza -tion of AVMs should be performed byexperienced interventional radiolo-gists or cardiologists and in conjunc-tion with pulmonary angiography.Pulmonary angiography is consideredto be the gold standard test for PAVMdetermination (Tabori & Love, 2008).

Cerebral ArteriovenousMalformations

Cerebral arteriovenous malforma-tions (CAVMs) are present in 20% ofpatients with HHT, and the rare spinalAVMs are found in 1% to 2% ofpatients (HHT Foundation Inter -national, 2010b). Infants as young as

Arteriovenous Malformations Arteriovenous malformations (AVMs)

that characterize HHT are found inthe lungs, brain, spinal cord, andliver. AVMs are abnormal connectionsbetween arteries and veins. AVMs inHHT result in arteries that are directlyconnected to veins, causing thesefragile vessels to potentially ruptureand bleed (HHT Foundation Inter -national, 2010b). These abnormalblood vessels must be carefully moni-tored and treated.

One-third of patients will have apulmonary arteriovenous malforma-tion (PAVM) in their lifetime (Shovlin,2009). Others will have two to threePAVMs, and some will have multiplePAVMs that require continued moni-toring and treatment. Patients with aPAVM may present with no objectivesymptoms, or they may have short-ness of breath with activity, difficultylying flat to sleep, clubbing of theirfingers, brain abscess, or hypoxemiawith an oxygen saturation less than95%.

Hereditary Hemorrhagic Telangiectasia: Children Need Screening Too

Figure 1.Telangiectasia on the Tongue of a Young Boy

Source: Photo courtesy of Dr. Andrew White.

Figure 3.Lip Telangiectases on Young Boy with HHT

Source: Photo courtesy of Dr. Andrew White.

Figure 4.Telangiectasia on the Hand of a Young

Patient with HHT

Source: Photo courtesy of Dr. Andrew White.

Figure 2.Three Telangiectases on the Tongue of a

Boy with HHT

Source: Photo courtesy of Dr. Andrew White.

PEDIATRIC NURSING/July-August 2011/Vol. 37/No. 4 165

3 weeks have been diagnosed with aCAVM in the authors’ center. Patientswith CAVMs may be asymptomatic ormay present with stroke, seizures,neurological changes, or brainabscess. Treatment should be consid-ered if an AVM is equal to or greaterthan one centimeter in size becauseremoving the AVM decreases the riskfor future brain hemorrhage. Effectivetreatment may include surgery,embolization, stereotactic radiation(gamma knife), or a combination ofthese treatments (HHT FoundationInterna tion al, 2010b). Decisions re -garding treatment of patients with aCAVM should be made by a multidis-ciplinary team on an individual basis.Variables that should be consideredwhen deciding on treatment includethe location of the AVM, depth of theAVM, the ability to access it, and allrisks involved in surgery and long-term affects (HHT FoundationInternational, 2010b).

Diagnostic Genetic Testing The diagnosis of HHT is made by

satisfying the Curacao criteria or byhaving a positive genetic test(Faughnan et al., 2009). A guide tomaking the diagnosis based on clini-cal criteria (the Curacao criteria) wasestablished in 1999 by the ScientificAdvisory Board of the HHT Founda -tion International, Inc., and remainsunchanged (Shovlin et al., 2000).These criteria include:• A first-degree family member

(parent, sibling, or child) withHHT.

• Epistaxis.• Telangiectases.• Arteriovenous malformation in a

solid organ.Patients are diagnosed with defi-

nite HHT if they have met three outof the four criteria (Shovlin et al.,2000). If an individual has at least twocriteria, they have possible HHT. Inthe United States, health care profes-sionals believe over 90% of individu-als with HHT have yet to be diag-nosed (HHT Foundation Internation -al, 2010b).

In 2003, commercial genetic test-ing for HHT became available in theform of a blood test (HHT FoundationInternational, 2010b). The two maingenes that have been identified ascontributing to HHT are the endoglin(ENG) mutation on chromosome9q33-34 and the activin-receptor-likekinase 1 (ACVRL1 or ALK1) on chro-mosome 12q (HHT FoundationInternational, 2010b). These diseasesubtypes are known as HHT1 and

odic screening and evaluation for thedisease every 3 to 5 years.

Children present for screening orevaluation of HHT after an adult fam-ily member or sibling has been diag-nosed or is suspected of having HHT.In the past, it was thought screeningof children in families was not neces-sary until adolescence because of theage at which the abnormal blood ves-sels usually develop and the diseasepresents itself. Although most peoplewith HHT are diagnosed in adulthoodby 40 years of age, some pediatricpatients have life-threatening mani-festations that need to be diagnosedand treated well before reaching anadult age (Faughnan et al., 2009). Inthis disease, manifestations or symp-toms vary within family members.For some, HHT is a nuisance, whilefor many others, it is life-threateningand requires vigilant medical care andintervention. Children are diagnosedwith HHT using the same criteria asadults. Increased awareness andrecognition of HHT symptoms inadults will hopefully open up avenuesfor increased screening and diagnosisin children.

Evaluation and ScreeningProcess

Patients from birth to 21 years ofage are referred to the authors’ HHTcenter by their primary careproviders, medical specialists, and theHHT Foundation Inc., or self-referral.The nurses and physicians reviewinformation obtained during the ini-tial contact to obtain necessaryrecords and facilitate an evaluationappointment for one or more familymembers. This evaluation includes acomprehensive history and physicaland diagnostic testing. Every childwith suspected HHT should bescreened by physicians familiar withthis disease. Physicians with expertisein HHT can be found in one of the 33HHT Centers of Excellence through-out the world (HHT FoundationInternational, 2010b).

As nurses at the center, the authorsare one of the first contacts for thefamilies. It is imperative that neces-sary clinical and demographic infor-mation is obtained to plan the evalu-ation. In collaboration with theexpert HHT pediatrician, a plan ofcare and evaluation are formulated,and a visit is planned. Most patientstravel long distances to get to the cen-ter. There are only 12 HHT Centers ofExcellence within the United States,and some do not provide pediatric

HHT2, respectively. Another type ofHHT has been found in an overlap-ping group of patients with juvenilepolyposis syndrome (JPS) and is iden-tified as SMAD4 (Haidle & Howe,2008).

Juvenile polyposis is a condition inwhich individuals are predisposed topolyps forming in their gastrointesti-nal tract (Haidle & Howe, 2008). Thenumber of polyps varies from a few toover a hundred in one’s lifetime. Thepolyps specifically found in the stom-ach, small intestine, colon, and rec-tum are termed juvenile because oftheir type and not in relation to whenthey present. Most juvenile polyps arebenign but can cause bleeding andanemia. The combination of HHT(ENG) and SMAD4 occurs in about20% of individuals with SMAD4mutation (Haidle & Howe, 2008).

In addition to these types, severalhundred HHT-causing mutationshave been described (Gedge et al.,2007). Genetic testing for HHT willprovide an answer only 75% of thetime; therefore, many families arereluctant to have the genetic test per-formed due to cost, odds of not find-ing the mutation, or future potentialproblems with insurance coverage(Gedge et al., 2007). Controversyregarding future insurance coveragefor a child sometimes clouds the deci-sion to carry out this test. The mostaffected and senior member of thefamily living with HHT (the proband)should have the genetic testing first.

After the family’s particular geneticmutation is initially identified, othermembers can be tested (Shovlin,2009). The average cost for the firstgenetic test in a family is about $1500(Cohen et al., 2005). Each additionalaffected family member is usuallycharged $250. Some insurance planswill cover the cost of the genetic test,but families are often responsible forthe cost. Genetic testing can be usefulif a genetic mutation is identified.Knowing the family mutation andhaving a member with a positivegenetic test allows for making thediagnosis in other members of thesame family because the positive testsatisfies one of the Curacao criteria.This can be especially helpful in diag-nosing children because they do notoften meet clinical diagnostic criteria(Mei-Zahav et al., 2006). About 30%of patients who meet the clinical cri-teria for a diagnosis of HHT will havea negative or indeterminate genetictest (Faughnan et al., 2009). If a childhas not had a genetic test or if thegenetic test failed to identify a gene, itis necessary for the child to have peri-

166 PEDIATRIC NURSING/July-August 2011/Vol. 37/No. 4

care. The HHT Foundation Inter -national provides a comprehensivelist of HHT Centers of Excellence.

An initial screening appointmentconsists of a thorough history, a phys-ical examination, pulse oximetry, acontrast (or bubble) echocardiogram(CE), and brain magnetic resonanceimaging (MRI) with and without con-trast. The family history is crucial indetermining the symptoms, as well asthe extent of HHT within the family.The authors’ team meets with thefamily and patient simultaneouslyduring the interview and asks ques-tions related to specific problems orsymptoms of HHT. These appoint-ments are arranged so the clinic visitand testing are completed in one totwo days. Infants and young childrenare unable to tolerate the testing with-out sedation because any movementinterferes with some tests. Sedation isusually well tolerated in childrenwhen managed by experienced nursesand physicians in the pediatric caresetting. Health care professionals inthe HHT center must weigh the risk ofsedation versus the knowledge gainedfrom having the tests. At the authors’center, a child life specialist is avail-able to assist pediatric patients inpreparing and completing the neces-sary radiology tests. These screeningtests can be physically demandingand can provoke anxiety regardless ofthe age or developmental level of thepatient.

Contrast echocardiography (CE) isthe first-line test used to evaluate thepresence of intrapulmonary shuntingseen with AVMs and has been deter-mined to be a very sensitive screeningtool (Gossage, 2003). Patients areinjected with agitated saline duringtransthoracic echocardiography. Thetest is indicative of a pulmonary AVMif bubbles are seen in the left heartafter three to five heart beats(Gossage, 2003). Bubbles identifiedimmediately are usually diagnostic ofpatent foramen ovale (PFO). It isimportant that the cardiologist befamiliar with distinguishing thesefindings in the pediatric patient. If theCE is positive, the patient will bescheduled for a chest computedtomography scan with angiography(CTA) because a positive CE alonecannot diagnose a PAVM or describethe size and location of the shuntingvessel (Oxhoj, Kjeldson, & Neilsen,2000).

Brain MRI with and without con-trast (MRI/MRA) is done to evaluatefor the presence of cranial arteriove-nous malformations (CAVMs). A base-line MRI with and without contrast is

Triaging these phone calls requiresexpertise of the disease and its presen-tation in children; even then, it canbe difficult to decide if the symptomsare related to HHT. The following casestudies are being shared to demon-strate the variability of symptomsthat exists in children with HHT.

Pediatric Case Examples Of HHT

Tim Tim was born to a family in which

his father has HHT manifested bytelangiectases, epistaxis, and PAVMs.Tim’s father was diagnosed as a youngadult based on clinical findings. A fewyears prior to Tim’s visit to theauthors’ pediatric HHT center, Tim’sfather had genetic testing thatrevealed the endoglin mutation orHHT1. He has two older sisters, eachwith positive family history and epis-taxis. Using the Curacao criteria, onesister has definite HHT (she has skintelangiectases, positive family history,and epistaxis). His other sister haspossible HHT, having only two crite-ria, a positive family history and epis-taxis. At four weeks of age, Tim pre-sented to a local emergency unit withepisodes of stiffening after feeding,suspicious behavior for seizure activi-ty. He was anemic and posturing, andwas quickly admitted to the pediatriccritical care unit. His evaluationrevealed a tangle of blood vesselsmeasuring 2x3 cm in the left frontalregion of his brain that was promptlyresected. Given his CAVM and posi-tive family history, he meets criteriafor possible HHT. At discharge, he hadmild right hemi-paresis.

At 3 years of age, he returned tothe center and had progressed in hisneurodevelopmental milestones; hewas talking, walking, and feedinghimself. He had right-sided weaknessand seizures that were treated withdaily antiepileptic medicine. He hadnosebleeds two times per week andno skin telangiectases. At this visit,Tim satisfies the criteria for definiteHHT because he has nosebleeds, aCAVM, and positive family history.His CE at this visit revealed intrapul-monary shunting, and his brain MRIdid not reveal any new AVMs.

Given his positive CE, a computedtomography of the chest with angiog-raphy (CTA) will be completed at hisvisit in one year to determine if he hasa PAVM. Dependent on these find-ings, he will continue to require inter-val brain MRI, chest CTAs, a review of

completed whether or not the patienthas evidence of abnormal neurologi-cal symptoms. CAVMs occur in 5% to20% of all HHT patients and havebeen diagnosed in patients despite anormal neurological examination(HHT Foundation International,2010b). Interpretation of brain MRIsand CTAs should be done by neurora-diologists with HHT experience toensure a correct diagnosis.

At the end of the evaluation andscreening appointment, the patientand family will know whether theyhave any symptoms of HHT and ifthey can be diagnosed with possibleor definite HHT. The physician andnurse team at the authors’ center pro-vide education about living withHHT. In this pediatric population,education is focused on nasal hygieneand supportive care for nosebleeds,sub-acute bacterial endocarditis (SBE),changes in activity and exerciserestrictions, avoidance of aspirin andnon-steroidal anti-inflammatory drugs(NSAIDS), and the need for a filterwith intravenous infusions (Peiffer,2009). Patients who do not knowwhether they have a PAVM or have aknown or treated PAVM should followthe American Heart Association(AHA) guidelines for prophylacticantibiotics (HHT Foundation Interna -tional, 2010a).

NSAIDS should be avoided inpatients with suspected HHT becauseof anticoagulant properties that couldcontribute to prolonged bleeding(HHT Foundation International,2010b). Filters are recommended foruse with any intravenous infusion todecrease the chance of air embolism(Peiffer, 2009). Families are encour-aged to continue regular medical carewith their primary care physician andmaintain communication with theHHT center as needed. Families orhealth care providers should call theirlocal HHT center with symptoms ofdecreased exercise tolerance, decreas -ed oxygen saturation, increased fre-quency and severity of nosebleeds,hemoptysis, hematochezia, and changein neurological status or behavior intheir child.

It is believed that AVMs grow slow-ly, and patients can wait three to fiveyears between evaluations; however,some children experience an increaseor change in symptoms sooner andshould be evaluated. Nurses are cru-cial in communicating changes in achild’s symptoms to the HHT physi-cian. Parents call with questionsregarding many aspects of theirchild’s health and whether or nottheir concern is related to HHT.

Hereditary Hemorrhagic Telangiectasia: Children Need Screening Too

PEDIATRIC NURSING/July-August 2011/Vol. 37/No. 4 167

his interval history, and physicalexaminations to guide future therapy.

Andrew Andrew presented to the authors’

HHT center as a 21-month-old whoseumbilical cord blood was tested atbirth and revealed the ENG mutation.At his first visit, he accompanied hissisters to an appointment for an inter-val evaluation for them. Andrew’sfather has HHT manifested with epis-taxis, skin telangiectases, and PAVMs.His 17-year-old brother has HHT andhas epistaxis, skin telangiectases, andintrapulmonary shunting. Andrewdid not have nosebleeds or skintelangiectases.

At this visit, recommendationswere made to have CE in one to twoyears and to use prophylaxis for dentalwork. He returned to the clinic at 5years of age for follow up and haddeveloped a few telangiectases on hisface and lower lip, but no nosebleedsor other symptoms. When Andrewvisited the center at 9 years of age, CEshowed intrapulmonary shunting,and his brain MRI revealed a 2 cmright parietal AVM and three tinyAVMs in the left parietal region. Hereported nosebleeds once per month,another telangiectasia on his rightarm, and an oxygen saturation of96%. He did not have shortness ofbreath with exercise or any other com-plaints. He had a craniotomy withsuccessful removal of his large CAVM.

Andrew returned in the fall forCTA to further define his intrapul-monary shunting, and this revealedmultiple PAVMs, of which three wereembolized. He will have repeat CTAand brain MRI in two to three years toguide further treatment. Andrew isattending school and participating inall his activities.

AnnAt 6 years of age, Ann was noted to

have oxygen saturations of 89% to94% during anesthetic induction for atonsillectomy at an outside hospital.As a follow up to the lower-than-nor-mal oxygen saturations, Ann wasevaluated by medical specialists at alarger hospital system in her homestate and given a definitive diagnosisof HHT. Ann met all four Curacao cri-teria used to make a diagnosis of HHTbecause her evaluation revealed posi-tive family history of HHT on thefather’s side, multiple skin telangiec-tases in the characteristic locations,occasional epistaxis, and a 3x3x2 cmPAVM in the right lower lobe discov-ered after undergoing a cardiaccatheterization procedure.

for re-evaluation with her oxygen sat-urations between 70% to 80% at reston room air. She admitted to usingher oxygen much more frequently atthis point. Repeat pulmonary angio -grams showed innumerable sub-cen-timeter AVMs in both lungs withmore recruitment of collateral vesselsfrom the chest wall, right hemidiaphragm, and celiac artery.

Because the preponderance of theAVMs is in a single segment, segmen-tal obliteration by embolization is notan option because it would notimprove the patient’s oxygen satura-tions or poor prognosis. One finalconsultation was made with the lungtransplant team. The pulmonologistsand cardiothoracic surgeons reviewedher care and thought that transplantwould be risky because of potentialfor hemorrhage, given the presence ofcranial AVMs. The patient and familydecided to return home with hospicecare and comfort measures. Ann diedat age 16 after a stroke.

Ann’s 17-year-old brother, Nick,also has HHT. His case is not as com-plicated as his sister’s was in her teenyears. He has skin telangiectasias,nosebleeds, and several small PAVMsthat are too small to treat withembolization. He continues to returnto the center every 2 to 3 years forevaluation.

CharlieCharlie, almost 5 years of age, was

referred to the authors’ pediatric HHTcenter for routine screening of possibleHHT due to positive family history.The paternal grandfather is known tohave definite HHT, and Charlie’smother has possible HHT. Charlie hasepistaxis and cutaneous telangiectaseson his face and hands. He denied chestdiscomfort, shortness of breath,headaches, and exercise intolerance,but oxygen saturations in the exami-nation room registered only 91% to92%. Charlie’s CE was positive forintrapulmonary shunting, and hisbrain imaging study was normal.Further testing included a CTA andsubsequent pulmonary angiography.The CTA revealed multiple PAVMs,with the largest in the right lower lobe,and multiple small peripheral PAVMsscattered throughout bilaterally.

One month after this CTA, thepatient had pulmonary angiographywith embolization of a complex rightlower lobe AVM that was found tohave two feeding arteries and twodraining veins ranging in size from 3to 6 mm. This unusual AVM patternwas noted to be like a tree withbranches.

Successful closure of the PAVMthrough embolization helped increaseAnn’s oxygen saturations from a base-line of 80% to about 93% at rest with-out oxygen supplementation. Annenjoyed more childhood activitiesafter the procedure due to less exerciseintolerance and fatigue. She experi-enced minimal problems related toHHT over the next two years. At 9years of age, Ann had a follow-up visitwith testing that revealed multiplesmall PAVMs too small to embolizedue to the tiny vessels feeding thesePAVMs.

Ann presented to the authors’pediatric HHT center at 11 years ofage with complaints of intermittentchest pain, nosebleeds, occasionalhemoptysis, exercise intolerance, andhypoxemia with oxygen saturationsof 80% on room air. Ann had a pul-monary angiogram that identifiedinnumerable AVMs in both lungs.There were five PAVMs with feedingarteries large enough to accept coilsfor successful embolization. Annreturned to the center at 12 years ofage and had a CTA that revealed morediffuse bilateral PAVMs with no pat-tern to their distribution. At thispoint in Ann’s life, she could not keepup with her friends while at play.Colla boration among several well-known HHT specialists offered diffi-cult and unattractive treatmentoptions that included obliteratingentire segments of the lungs moreheavily involved with AVMs or con-tinuation of monitoring her healthwith support measures as needed. Thefamily chose continued monitoringof her health with supportive meas-ures.

Ann returned to the center at 13years of age with more frequent com-plaints of chest pain and increasingneed for supplemental oxygen. Hershortness of breath led her to sleep inan upright position. The familynoticed occasional periorbital, perio-ral, and peripheral cyanosis. Duringthis visit, her CTA revealed a newfinding of right ventricular hypertro-phy with increasing numbers of sub-centimeter AVMs scattered bilaterallythroughout the lungs that were againtoo small to embolize.

At this visit, new findings of twoCAVMs were noted on a headMRI/MRA. Her neurological examina-tion was normal. Neuroradiologistsoffered options for possible treatmentof the CAVMs, such as brain surgery,gamma knife, or possible emboliza-tion. The patient and family declinedthese treatment options and returnedhome. They returned 6 months later

168 PEDIATRIC NURSING/July-August 2011/Vol. 37/No. 4

Charlie was discharged home onthe same day as the outpatient proce-dure. He is to have repeat CTA in 1 to2 years. Charlie attends school andparticipates in physical activity withmuch more energy. He could havesuffered complicated, life-alteringhealth problems due to the PAVM if ithad not been treated.

DiscussionThe above cases illustrate the vari-

ability of presentation and subse-quent morbidity of this disease. Theyoungest child seen at the authors’center with a CAVM is 4-week-oldTim. He is the only patient withsymptoms associated with his CAVM,and it was reported as suspectedseizure activity. Andrew and Ann didnot have any symptoms of a CAVM,yet CAVMs were identified throughbrain imaging. Andrew’s case is espe-cially representative of the center’spediatric population in that he hadonly “red spots” and no other clinicalsymptoms.

Knowing Andrew had the gene forHHT, it was difficult for the healthcare team to decide whether or not torecommend sedating him for thescreening tests needed to identifyAVMs. The family wished to postponethe screening until he was 8 years ofage, and the center honored theirrequest. All were surprised that pul-monary and cranial AVMs were foundin this asymptomatic patient.

Charlie came to an evaluation atthe center without any noticeablesymptoms. The first indication thathe may have HHT was the oxygen sat-uration of 91% in an otherwise pre-sumably healthy school-aged child. Itis important to note that he came tothe center because of a family historyof HHT, which is the most frequent

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Shovlin, C., Guttmacher, A., Buscarini, E.,Faughnan, M., Hyland, R., Westermann,C., … Plauchu, H. (2000). Diagnosticcriteria for hereditary hemorrhagictelangiectasia (Rendu-Osler-WeberSyndrome). American Journal ofMedical Genetics, 91(1), 66-67.

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reason children are referred for anevaluation. Ann had low oxygen satu-ration as her presenting symptom.Her case was one of the most compli-cated because of her diffuse PAVMsand subsequent CAVMs. Each of thesechildren presented to the authors’center with varying symptomotology,which is why it is so important toeducate nurses and health care profes-sionals to be alert to the signs andsymptoms of HHT.

RecommendationChildren have a 50% chance of

having HHT if one of their parents hasthe diagnosis (HHT FoundationInternational, 2010b). Screening chil-dren of these affected adults is neces-sary to detect life-threatening medicalproblems. If children are not screenedbecause they do not have nosebleedsor skin telangiectases, life-threateningmanifestations can be missed, asdescribed in these cases. PAVMs andCAVMs requiring treatment have beendetected in patients with and withoutrecognizable symptoms. Regular HHTevaluations by experienced HHT spe-cialists can help detect treatable prob-lems that may cause significant mor-bidity and/or mortality if left uniden-tified. It is important for nurses andother health care professionals to con-sider HHT as a possibility when theyencounter a child with epistaxis, cuta-neous telangiectases or “red spots,”complaints of symptoms suspiciousfor solid organ AVMs, or family histo-ry suspicious for HHT.

ReferencesCohen, J., Faughnan, M., Letarte, M.,

Vandezande, K., Kennedy, S., & Krahn,M. (2005). Cost comparison of geneticand clinical screening in families with

Hereditary Hemorrhagic Telangiectasia: Children Need Screening Too

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