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Voortgangsverslag

Samenvatting
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De ziekte van Rendu-Osler-Weber (ROW) is een erfelijke aandoening die gepaard gaat met vaatafwijkingen, met name gelokaliseerd in de longen, maar ook in de hersenen en lever. Vaatafwijkingen in de longen kunnen leiden tot ernstige complicaties, zoals een beroerte of hersenabces. Behandeling d.m.v. embolisatie (afsluiten van het vat met spiraaltjes of pluggen) verkleint het risico op deze complicaties aanzienlijk. Dit project (gestart in oktober 2014) is gericht op verbetering van de diagnostiek en behandeling van longlokalisatie van ROW en de follow-up na behandeling. Het verzamelen en evalueren van gegevens verloopt volgens planning. Inmiddels zijn twee artikelen gepubliceerd in medische tijdschriften (een derde ingediend) en enkele presentaties gehouden op het tweejaarlijkse internationale ROW-congres en de landelijke ROW patiëntendag in 2015.

Resultaten
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Inmiddels heeft het project de volgende bevindingen opgeleverd:

1. Niet alleen screening op aanwezigheid van pulmonale AV-malformaties (PAVMs, afwijkende bloedvaten in de longen), maar ook een belangrijk deel van de controles kan plaatsvinden met een echo-onderzoek van het hart, i.p.v. een CT-scan van de longen.

2. In de meeste gevallen is niet ieder jaar controle nodig.

3. Voor screening op aanwezigheid van PAVMs kan bij kinderen worden volstaan met een saturatiemeting aan de vinger en een Röntgenfoto van de longen; het (meer belastende) echo-onderzoek kan worden uitgesteld tot volwassen leeftijd.

4. De levensverwachting van onbehandelde patiënten met ROW type I is verminderd (ouder met ROW versus ouder zonder ROW), maar in geval van ROW type II normaal. Naar verwachting is de levensverwachting van patiënten met ROW type I ook normaal, wanneer PAVMs behandeld worden; dit wordt thans verder onderzocht.

Samenvatting van de aanvraag

Samenvatting
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Background: Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant inherited disorder, with an age-related penetrance, characterized by vascular abnormalities varying from small telangiectases in skin and mucosal membranes, to large arteriovenous malformations, predominantly in the brain, liver and - especially - lungs. Pulmonary arteriovenous malformations (PAVMs) replace normal capillaries between the pulmonary arterial and venous circulation, which result in a permanent pulmonary right-to-left shunt. This carries the risk of strokes and brain abscesses, due to paradoxical embolisations. PAVMs are detected in 35-85% of patients. Because of this high prevalence and potential severe complications, screening for PAVMs is warranted in all persons with (suspected) HHT. Sporadic PAVMs occur, but 90% of the PAVMs is related to HHT. Transthoracic contrast echocardiography (TTCE) has become the initial screening test for the detection of PAVMs. The current international guidelines require the confirmation of all shunts on TTCE by chest computed tomography (CT), in order to evaluate the necessity for transcatheter embolotherapy of PAVMs with coils or – more and more frequently - Amplatzer plugs. Six months after the embolotherapy, a chest CT is repeated and in case of persistent perfusion of the PAVM, embolotherapy is repeated. The standard protocol consists of yearly follow-up, with CT every 2 to 4 years, as reperfusion of PAVMs may occur, despite initial successful occlusion. This results in a high radiation exposure in mainly young adults.

 

Objective: The aim of this project is to optimize the current screenings algorithm for the detection of PAVMs in (suspected) HHT, as well as the options for treatment and follow-up.

 

Hypotheses: A pulmonary shunt grading system can be used to characterize the pulmonary shunt size on TTCE and guide further decision making in the initial screening algorithm for the detection and treatment of PAVMs in (suspected) HHT. Whether the pulmonary shunt size on TTCE may increase over time is currently unknown. In order to reduce radiation exposure, both TTCE and magnetic resonance imaging (MRI) may be used in the follow-up of (un)treated PAVMS, but a comparison with chest CT is currently lacking. A multidisciplinary approach using TTCE, chest CT and MRI, and regular discussion with a cardiologist, pulmonologist and intervention radiologist may result in an optimised tailored made approach for the patient. We hypothesise that embolotherapy with plugs is at least as effective as with coils.

 

Study design: Retrospective and prospective cohort study.

 

Study population and dataset: All consecutive persons screened for HHT and/or PAVMs from 2004 until present at the St. Antonius Hospital will be included in the dataset. This dataset includes all diagnostic and clinical important characteristics.

 

Intervention: All persons are screened for the presence of HHT and PAVMs by a standardized diagnostic approach. CT and MRI will be performed depending on the presence of pulmonary shunting on TTCE. The indication for embolotherapy is evaluated in a multidisciplinary consensus meeting.

 

Outcome measures: In a retrospective cohort we will study the accuracy of the current clinical diagnostic criteria, compared to genetic testing in correlation with age. We will study the additional value of different pulmonary shunt grading on TTCE, not only in the screenings algorithm, but also in follow-up of untreated PAVMs. The potential spontaneous increase or decrease of pulmonary shunting on TTCE after five years will be evaluated. In a prospective analysis we will compare the diagnostic accuracy of MRI to CT in both the detection and follow-up of (treated) PAVMS. We will determine potential differences in long-term results of PAVM embolotherapy with either coils or plugs and determine potential patterns in PAVM feeding arteries involved in persistent perfusion after embolotherapy. A comparison of HHT versus sporadic PAVMs and embolisation results will be made. Surv

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