Economic evaluation in the context of rare diseases: is it possible? / Evaluación económica en el contexto de enfermedades raras: ¿es posible? / Avaliação econômica no âmbito das doenças raras: isto é possível?

This study analyzes the available evidence on the adequacy of economic evaluation for decision-making on the incorporation or exclusion of technologies for rare diseases. The authors conducted a structured literature review in MEDLINE via PubMed, CRD, LILACS, SciELO, and Google Scholar (gray literature). Economic evaluation studies had their origins in Welfare Economics, in which individuals maximize their utilities based on allocative efficiency. There is no widely accepted criterion in the literature to weigh the expected utilities, in the sense of assigning more weight to individuals with greater health needs. Thus, economic evaluation studies do not usually weigh utilities asymmetrically (that is, everyone is treated equally, which in Brazil is also a Constitutional principle). Healthcare systems have ratified the use of economic evaluation as the main tool to assist decision-making. However, this approach does not rule out the use of other methodologies to complement cost-effectiveness studies, such as Person Trade-Off and Rule of Rescue.

El objetivo fue sistematizar las evidencias disponibles sobre la pertinencia de utilizar la evaluación económica para la incorporación/exclusión de tecnología en enfermedades raras. Se realizó una revisión sistemática de la literatura en MEDLINE vía PubMed, CRD, LILACS, SciELO y Google Académico (literatura gris). Los estudios de evaluación económica se originan de la Economía del Bienestar, en la que los individuos maximizan sus utilidades, basándose en la eficiencia de asignación. No existe un criterio ampliamente aceptado para examinar las utilidades, a fin de dar más peso a los individuos con mayores necesidades. Generalmente, los estudios no equilibran asimétricamente las utilidades, todas son consideradas iguales, lo que en Brasil es también un principio constitucional. Los sistemas de salud han ratificado el uso de la evaluación económica como la principal herramienta para ayudar en la toma de decisiones. Sin embargo, este abordaje no excluye el uso de otras metodologías complementarias a los estudios de coste-efectividad, como la técnica de compensación personal o la regla del rescate.

O objetivo deste estudo foi analisar as evidências disponíveis sobre a adequação do uso de avaliação econômica sobre incorporação/exclusão de tecnologias para doenças raras. Foi realizada uma revisão estruturada da literatura, nas bases MEDLINE, via PubMed, CRD, LILACS, SciELO e Google Acadêmico (literatura cinzenta). Os estudos de avaliação econômica têm origem na Economia do Bem-Estar, na qual os indivíduos maximizam suas utilidades, fundamentando-se na eficiência alocativa. Não há um critério amplamente aceito para ponderar as utilidades esperadas, no sentido de dar mais peso aos indivíduos com maiores necessidades em saúde. Geralmente não se ponderam assimetricamente as utilidades; todas são tratadas de forma igualitária, que, no caso brasileiro, também é um princípio constitucional. Os sistemas de saúde têm ratificado o uso de avaliação econômica como principal instrumento para auxiliar na tomada de decisão. No entanto, essa postura não exclui o uso de outras metodologias complementares aos estudos de custo-efetividade, como Person Trade-Off e regra de resgate.

Prevention of rupture of abdominal aortic aneurysm.

BACKGROUND AND AIMS: Two thirds of patients with an abdominal aortic aneurysm (AAA) have relevant coronary artery disease (CAD). AAAs are prevalent in up to 16% of smokers with CAD. General screening of AAA is controversial. Aim was to assess the potential of finding AAA prior to rupture among patients with known CAD. Main endpoint was whether AAA could have been found during follow-up by sonography or at other time of cardiovascular evaluation. MATERIAL AND METHODS: Retrospective study. 213 consecutive, formerly unknown emergently operated AAAs, treated emergently for symptoms (n = 91) or rupture (n = 122) (rAAA) between January 1998 and June 2005. Patient charts were analysed and primary care physicians contacted. RESULTS: At presentation, mean age was 71 (+/-9) years, twenty (9%) were female. AAA had a mean diameter of 7.6 cm. Two thirds (143) were clinically obese (BMI 27 +/-5). 137 (64%) were active smokers, 32 (15%) had diabetes, 151 (71%) were hypertensive, and 80 (38%) received statin treatment. CAD had been diagnosed in 95 (45%) 9 years earlier and followed up. Thirty-five (16%) had had myocardial infarction. Echocardiography had been performed in 52 (24%). Thirty day mortality after open surgery was 25 (21%). CONCLUSION: All patients with rAAA had been seen by a GP or cardiologist within a year prior to presentation. The cost effectiveness of selective AAA screening should be evaluated in a larger study.

A 10-year single-center prospective study of endovascular abdominal aortic aneurysm repair with the talent stent-graft.

PURPOSE: To report a 10-year prospective study of patients submitted to endovascular treatment for infrarenal abdominal aortic aneurysms (AAA). METHODS: Between June 1997 and June 2007, 337 patients (284 men; mean age 72.5+/-7.4 years, range 52-89) with AAA underwent endovascular aneurysm treatment (EVAR) with implantation of Talent stent-grafts. The mean AAA diameter was 59.0+/-14.4 mm. All patients were clinically followed using computed tomography in the immediate post surgery period (15-30 days), after 6 months, and yearly thereafter. Plain abdominal radiography was performed yearly to assess the metallic components of the stent-grafts. Data concerning endoleaks, secondary procedures, and aneurysm diameter behavior were evaluated. Survival was evaluated using Kaplan-Meier estimates. RESULTS: Endoprosthesis implantations were successful in 99.1% (334/337). There were 2 surgical conversions, and the delivery system could not be inserted in 1 female patient. The perioperative mortality was 3.9% (n = 13). Nineteen (5.7%) aneurysms showed endoleaks during the first 30 days (6 type I and 13 type II); 5 type I and 3 type II endoleaks were repaired (secondary clinical success of 92.6%). Another 15 late endoleaks were detected (4 type I, 5 type II, 3 type III, 1 type IV, 2 endotension), for a total of 34 (10.2%) endoleaks. Follow-up (mean 58.7 months, range 12-120) was available in 273 (81.0%) patients. During this time, there were 2 (0.7%) aneurysm ruptures, 1 due to type III endoleak and the other to endotension. Over the course of the study, 75 patients died; the estimated survival rates by the Kaplan-Meyer analysis were 67.3% after 5 years and 54.2% after 7 years. The mean AAA diameter decreased to 45.7+/-18.4 mm (p<0.001 versus mean postoperative diameter) at 60 months and to 37.8+/-15.0 mm at 120 months (p<0.019). CONCLUSION: Endovascular aneurysm treatment with the Talent stent-graft has proven to be effective in the prevention of AAA rupture into the long term.

Aneurisma da aorta abdominal: fatores de risco de ruptura, diagnóstico clínico e prevençäo de óbito / Aneurysm of the abdominal aorta: rupture risk, clinical diagnosis and death prevention

O aneurisma da aorta abdominal (AAA) é definido como uma dilataçäo localizada com pelo menos uma vez e meia o diâmetro transversal da aorta presumivelmente normal. A etiologia mais frequente é um processo degenerativo näo específico (comumente considerado aterosclerótico) em 95 por cento dos casos. Outras causas säo: doença do colágeno (necrose cística da média, síndrome de Marfan, síndrome de Ehles-Danlos); doença inflamatória (Takayasu, Arterite Temporal, Reiter); trauma e infecçäo. A formaçäo aneurismática envolve destruiçäo da elastina pelas enzimas proteolíticas na parede da aorta especialmente em presença de hipertensäo arterial. O local mais comum de formaçäo de aneurisma da aorta é entre as artérias renais e ilíacas. Evoluçäo natural: o AAA inexoravelmente irá evoluir para ruptura se näo for corrigido cirurgicamente ou se o doente näo morrer antes de outra causa. Os fatores mais importantes que levam a ruptura do aneurisma säo: diâmetro transversal, hipertensäo arterial (especialmente a diastólica) e doença pulmonar obstrutiva crônica. Clínica: o AAA normalmente evolui assintomático, pode tornar-se sintomático (dor abdominal, dor lombar ou isquemia dos membros inferiores) ou, simplesmente, romper e óbito. Diagnóstico: pode ser incidental durante uma avaliaçäo clínica de rotina (palpaçäo abdominal), através de radiografias simples de abdome, ultra-som, tomografia abdominal, ressonância magnética, aortografia. Ou ainda quando se torna sintomático (dor abdominal, choque hemorrágico, dor lombar, isquemia de membros inferiores). Tratamento: näo existe tratamento clínico para o AAA. Todo AAA diagnosticado com mais de 5 cm de diâmetro, ou se menor, porém com crescimento maior que 5 mm em seis meses tem indicaçäo de correçäo cirúrgica para prevenir o evento fatal.

Síndrome de Marfán y embarazo / Marfan's syndrome and pregnancy

El síndrome de marfan presenta graves complicaciones en la mujer embarazada. Se presenta un caso clínico de una paciente aquejada del síndrome en la cual no hubo complicaciones maternas ni fetales. Se realiza una revisión del cuadro clínico y las complicaciones que acompañan al síndrome