Prevalence of hereditary hemorrhagic telangiectasia in a medical care program organization in Buenos Aires, Argentina.

INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia that might affect 1/5000-10 000 individuals worldwide. It is a rare and underdiagnosed condition. Population-based epidemiological studies are crucial for comprehending and quantifying the impact of this disease. We aim to estimate the prevalence in a Prepaid Health Care System of Buenos Aires, Argentina. METHODS: A descriptive cross-sectional study was designed, which included all patients over 18 years of age affiliated with the Hospital Italiano Medical Care Program (IHMCP), a prepaid health maintenance organization (HMO) of Buenos Aires. For case inclusion, individuals were required to have a clinical diagnosis of HHT. Case detection included the search in our Institutional Registry. The prevalence was calculated by dividing the number of cases of HHT by the total number of all active affiliates at January 2023. Age and gender specific prevalence rates were estimated. RESULTS: 48 cases were reported. The prevalence was 3.2 in 10 000 (IC 95% 2.4-4.2). Specific prevalence in women was 3.9 in 10 000 (IC 95% 2.8-5.5) and in men 2.1 in 10 000 (IC 95% 1.2-3.6). The average age was 54.8 (19), 35 patients were women (72.9%) with an average age of 55 (19.9), and 55 (17.2) for men. The most common referrals were physicians (60.4%) followed by family history (18.7%). The 48 patients corresponded to 39 families. DISCUSSION: The prevalence identified in our study is higher than the one documented in other studies.

Introducción: La telangiectasia hemorrágica hereditaria (HHT) es una displasia vascular que puede afectar a 1 de 5000 a 10 000 personas en el mundo. Es una afección rara y subdiagnosticada. Los estudios epidemiológicos son fundamentales para comprender y cuantificar el impacto de esta enfermedad. Nuestro objetivo fue estimar la prevalencia en un Sistema Prepago de Atención de la Salud, en Buenos Aires, Argentina. Métodos: Estudio descriptivo transversal en pacientes mayores de 18 años afiliados al Programa de Atención Médica del Hospital Italiano en Buenos Aires (Plan de Salud). Para la inclusión de casos, se requería el diagnóstico de HHT. La detección de casos incluyó su búsqueda en nuestro Registro Institucional. La prevalencia se calculó dividiendo el número de casos por el número total de afiliados activos en enero de 2023. Se estimaron tasas específicas por edad y género. Resultados: Se reportaron 48 casos. La prevalencia fue de 3.2 por 10 000 personas (IC 95% 2.4-4.2). La específica en mujeres fue de 3.9 (IC 95% 2.8-5.5) y en hombres de 2.1 por 10 000 (IC 95% 1.2-3.6). La edad promedio fue de 55 años (19), con 35 pacientes mujeres (72.9%) con una edad promedio de 55 años (19.9) y 55 (17.2) para hombres. La derivación más común fue de médicos (60.4%), seguidas por antecedentes familiares (18.7%). Los 48 pacientes correspondían a 39 familias. Discusión: La prevalencia identificada en nuestro estudio es más alta que la documentada en otros estudios.

Severe thrombocytopenia associated to bevacizumab in a patient with scleroderma, gastrointestinal angiodysplasias and refractory gastrointestinal bleeding.

This case report discusses the medical history of a 64-year-old woman diagnosed with scleroderma and diffuse gastrointestinal angiodysplasia. The patient received bevacizumab (BVZ) therapy to address gastrointestinal bleeding that was unresponsive to endoscopic treatment. Subsequently, she developed severe thrombocytopenia. Although there were suspicions of an immune-mediated mechanism resulting from BVZ treatment, the laboratory results did not provide conclusive evidence. The patient underwent transfusions, received gamma globulin, and was treated with Romiplostim. Over time, her platelet levels gradually improved, and the bleeding was successfully controlled. It's worth noting that BVZ-induced thrombocytopenia is a relatively rare yet severe adverse effect. Recognizing and understanding the mechanisms behind thrombocytopenia is essential for developing safer treatment approaches. Further research is required to identify potential risk factors associated with this condition.

Glanzmann's thrombasthenia associated with gastrointestinal angiodysplasias successfully treated with bevacizumab.

Glanzmann's Thrombasthenia (GT) is a rare hemorrhagic condition caused by a platelet surface receptor disorder of the glycoprotein (GP) IIb/IIIa. Symptoms of GT are various forms of hemorrhages, such as purpura, epistaxis and menorrhagia. Gastrointestinal bleeding (GIB) is a rare expression of the condition and may occur due to traumas in the GI tract or as a consequence of gastrointestinal angiodysplasia (GIADs). In this case report, we present a middle-aged woman with recurrent GIB consequent to GIADs with persistent melena and iron deficiency anemia. After several unsuccessful therapeutic interventions, the patient was studied by the hereditary hemorrhagic telangiectasia's (HHT - Osler-Weber-Rendu disease) unit, where she received bevacizumab, showing a complete improvement in symptoms as well as a reduction in her GIADs. This case shows that bevacizumab could be a possible line of treatment for patients with coagulation disorders with GIADs.

Hereditary Renal Cell Carcinoma: Is Age an Independent Criterion for Genetic Testing? A Large Cohort from a Latin America Referral Center.

Although age younger than 46 years has been an independent criterion for genetic testing in hereditary renal cell carcinoma (hRCC), there is a lack of evidence in the literature. This study aims to analyze whether a 46-year-old cut-off should be considered an independent genetic testing criterion and to elucidate risk factors predicting a positive genetic test. Observational study from January 2010 to December 2021. All patients under 46 years with a non-metastatic kidney mass and surgical indication were included. We assume patients who relapse in the first 5 years of follow-up could have a positive genetic test. As risk factors for relapse, ergo positive genetic test, we consider those patients who presented multifocal, bilateral, or previous renal tumor. Of 2,232 nephrectomies for kidney cancer, 301 patients met the inclusion criteria. The median follow-up was 60 months (IQR 29-101). The estimated five-year RFS was 94.4% (95% CI 91.3-97.5). Tumor size, previous renal tumor, multifocality, bilaterality, and pT3 or pT4 stage were independent recurrence risk factors. Genetic testing was performed on 24 patients. 10 patients had pathogenic variants in the test, 8 of which recurred during their life. 46-year-old cut-off has shown low performance in genetic testing. Therefore, we recommend that it be considered only if other hRCC risk criteria exist. Multifocality, bilaterality, and previous renal tumor could predict a positive genetic test.

An international, multicenter study of intravenous bevacizumab for bleeding in hereditary hemorrhagic telangiectasia: the InHIBIT-Bleed study.

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is a rare multisystem vascular disorder causing chronic gastrointestinal bleeding, epistaxis, and severe anemia. Bevacizumab, an anti-vascular endothelial growth factor antibody, may be effective to treat bleeding in HHT. This international, multicenter, retrospective study evaluated the use of systemic bevacizumab to treat HHT-associated bleeding and anemia at 12 HHT treatment centers. Hemoglobin, epistaxis severity score, red cell units transfused, and intravenous iron infusions before and after treatment were evaluated using paired means testing and mixed-effects linear models. 238 HHT patients received bevacizumab for a median of 12 (range, 1-96) months. Compared with pretreatment, bevacizumab increased mean hemoglobin by 3.2 g/dL (95% CI, 2.9-3.5 g/dL) [mean hemoglobin 8.6 (8.5, 8.8) g/dL versus 11.8 (11.5, 12.1) g/dL, p<0.0001)] and decreased the epistaxis severity score (ESS) by 3.4 (3.2-3.7) points [mean ESS 6.8 (6.6-7.1) versus 3.4 (3.2-3.7), P<0.0001] during the first year of treatment. Compared with 6 months pretreatment, RBC units transfused decreased by 82% [median of 6.0 (IQR 0.0-13.0) units versus 0 (IQR, 0.0-1.0) units, P<0.0001] and iron infusions decreased by 70% [median of 6.0 (1.0-18.0) infusions versus 1.0 (0.0-4.0) infusions, P<0.0001] during the first 6 months of bevacizumab treatment. Outcomes were similar regardless of underlying pathogenic mutation. Following initial induction infusions, continuous/scheduled bevacizumab maintenance achieved higher hemoglobin and lower ESS than intermittent/as needed maintenance but with more drug exposure. Bevacizumab was well tolerated: hypertension, fatigue, and proteinuria were the most common adverse events. Venous thromboembolism occurred in 2% of patients. In conclusion, systemic bevacizumab was safe and effective to manage chronic bleeding and anemia in HHT.

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.

DESCRIPTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1 in 5000 that is characterized by the presence of vascular malformations (VMs). These result in chronic bleeding, acute hemorrhage, and complications from shunting through VMs. The goal of the Second International HHT Guidelines process was to develop evidence-based consensus guidelines for the management and prevention of HHT-related symptoms and complications. METHODS: The guidelines were developed using the AGREE II (Appraisal of Guidelines for Research and Evaluation II) framework and GRADE (Grading of Recommendations Assessment, Development and Evaluation) methodology. The guidelines expert panel included expert physicians (clinical and genetic) in HHT from 15 countries, guidelines methodologists, health care workers, health care administrators, patient advocacy representatives, and persons with HHT. During the preconference process, the expert panel generated clinically relevant questions in 6 priority topic areas. A systematic literature search was done in June 2019, and articles meeting a priori criteria were included to generate evidence tables, which were used as the basis for recommendation development. The expert panel subsequently convened during a guidelines conference to conduct a structured consensus process, during which recommendations reaching at least 80% consensus were discussed and approved. RECOMMENDATIONS: The expert panel generated and approved 6 new recommendations for each of the following 6 priority topic areas: epistaxis, gastrointestinal bleeding, anemia and iron deficiency, liver VMs, pediatric care, and pregnancy and delivery (36 total). The recommendations highlight new evidence in existing topics from the first International HHT Guidelines and provide guidance in 3 new areas: anemia, pediatrics, and pregnancy and delivery. These recommendations should facilitate implementation of key components of HHT care into clinical practice.

Targeting ß2-Adrenergic Receptors Shows Therapeutical Benefits in Clear Cell Renal Cell Carcinoma from Von Hippel-Lindau Disease.

Von Hippel-Lindau (VHL), is a rare autosomal dominant inherited cancer in which the lack of VHL protein triggers the development of multisystemic tumors such us retinal hemangioblastomas (HB), CNS-HB, and clear cell renal cell carcinoma (ccRCC). ccRCC ranks third in terms of incidence and first in cause of death. Standard systemic therapies for VHL-ccRCC have shown limited response, with recurrent surgeries being the only effective treatment. Targeting of ß2-adrenergic receptor (ADRB) has shown therapeutic antitumor benefits on VHL-retinal HB (clinical trial) and VHL-CNS HB (in vitro). Therefore, the in vitro and in vivo antitumor benefits of propranolol (ADRB-1,2 antagonist) and ICI-118,551 (ADRB-2 antagonist) on VHL-/- ccRCC primary cultures and 786-O tumor cell lines have been addressed. Propranolol and ICI-118,551 activated apoptosis inhibited gene and protein expression of HIF-2α, CAIX, and VEGF, and impaired partially the nuclear internalization of HIF-2α and NFĸB/p65. Moreover, propranolol and ICI-118,551 reduced tumor growth on two in vivo xenografts. Finally, ccRCC patients receiving propranolol as off-label treatment have shown a positive therapeutic response for two years on average. In summary, propranolol and ICI-118,551 have shown antitumor benefits in VHL-derived ccRCC, and since ccRCCs comprise 63% of the total RCCs, targeting ADRB2 becomes a promising drug for VHL and other non-VHL tumors.

SARS-CoV-2 diagnostic diary: from rumors to the first case. Early reports of molecular tests from the military research and diagnostic institute of Rio de Janeiro.

Corona virus disease (COVID-19) presents a serious threat to global health. A historical timeline of early molecular diagnostics from government alert (January 22) (D) was presented. After in silico analysis, Brazilian Army Institute of Biology (IBEx-RJ) tested samples in house using real-time reverse transcriptase polymerase chain reaction (RT-PCR) (fast mode) based on Centers for Disease Control and Prevention (CDC) recommendations. First cases from Brazil, Rio de Janeiro, IBEx, and diagnosis team were reported in D36, D44, D66, and D74 respectively. Therefore, after 1300 tests, we recommend N1/N2 primer sets (CDC) for preliminary and Charité protocol confirmation in case of positive results. Moreover, every professional should be tested before starting work, in addition to weekly tests for everyone involved.

Mielitis longitudinal extensa de presentación muy tardía: Una entidad del espectro de la neuromielitis óptica / Extensive longitudinal myelitis of very late presentation. An entity of the spectrum of optic neuromyelitis

Las enfermedades del espectro neuromielitis óptica son trastornos inflamatorios del sistema nervioso central caracterizados por una grave desmielinización y daño axonal inmunomediado que afecta principalmente a los nervios ópticos y médula espinal. Suelen presentars e en edades tempranas, aunque existen algunas comunicaciones en la literatura de pacientes con presentaciones tardías. Presentamos el caso de una mujer de 78 años que consultó por un cuadro de paraparesia grave, trastornos sensitivos y retención urinaria. Se realizó una resonancia magnética de columna cervicodorsal que evidenció una lesión medular longitudinal extensa. Se descartaron otras causas secundarias, basadas en la clínica y en resultados de laboratorio. El dosaje de anticuerpos anti-acuaporina 4 resultó positivo. Se indicó tratamiento con glucocorticoides a altas dosis y plasmaféresis, y mantenimiento con rituximab, obteniendo escasa respuesta clínica. En pacientes con lesiones medulares extensas se deben contemplar múltiples diagnósticos diferenciales según la presentación clínica, hallazgos mediante estudios por imágenes y epidemiología. Asimismo, debe incluir la búsqueda de anticuerpos anti-acuaporina 4 y contra la glicoproteína de la mielina del oligodendrocito, ya que el pronóstico funcional de estos pacientes suele ser desfavorable debido al gran componente destructivo de las lesiones. En consecuencia, el tratamiento temprano es fundamental a fin de limitar el daño agudo y prevenir futuras recaídas, lo cual es especialmente importante en presentaciones tardías de esta entidad debido a la escasa reserva funcional y baja capacidad de remielinización.

Optic neuromyelitis spectrum diseases are inflammatory disorders of the central nervous system characterized by severe demyelination and immunomediated axonal damage that mainly affects the optic nerves and spinal cord. They usually appear at an early age, although there are some reports in the literature of patients with late presentations. We present the case of a 78-year-old woman who consulted for severe paraparesis, sensory disorders, and urinary retention. An MRI of the cervicodorsal spine was performed, showing extensive longitudinal spinal injury. Secondary causes based on clinical observations and laboratory studies were ruled out. The dosage of anti-aquaporin 4 antibodies was positive. Acute treatment with high-dose glucocorticoids and plasmapheresis was indicated, and maintenance with rituximab, obtaining little clinical response. In patients with extensive spinal injuries, multiple differential diagnoses should be considered according to the clinical presentation, findings through imaging studies and epidemiology. Likewise, it should include the search for anti-aquaporin 4 antibodies and against the oligodendrocyte myelin glycoprotein, since the functional prognosis of these patients is usually unfavourable due to the large destructive component of the lesions. Consequently, early treatment is essential in order to limit acute damage and prevent future relapses, which is especially important in late presentations of this entity due to the low functional reserve and low remyelination capacity.

[Extensive longitudinal myelitis of very late presentation. An entity of the spectrum of optic neuromyelitis]. / Mielitis longitudinal extensa de presentación muy tardía. Una entidad del espectro de la neuromielitis óptica.

Optic neuromyelitis spectrum diseases are inflammatory disorders of the central nervous system characterized by severe demyelination and immunomediated axonal damage that mainly affects the optic nerves and spinal cord. They usually appear at an early age, although there are some reports in the literature of patients with late presentations. We present the case of a 78-year-old woman who consulted for severe paraparesis, sensory disorders, and urinary retention. An MRI of the cervicodorsal spine was performed, showing extensive longitudinal spinal injury. Secondary causes based on clinical observations and laboratory studies were ruled out. The dosage of anti-aquaporin 4 antibodies was positive. Acute treatment with high-dose glucocorticoids and plasmapheresis was indicated, and maintenance with rituximab, obtaining little clinical response. In patients with extensive spinal injuries, multiple differential diagnoses should be considered according to the clinical presentation, findings through imaging studies and epidemiology. Likewise, it should include the search for anti-aquaporin 4 antibodies and against the oligodendrocyte myelin glycoprotein, since the functional prognosis of these patients is usually unfavourable due to the large destructive component of the lesions. Consequently, early treatment is essential in order to limit acute damage and prevent future relapses, which is especially important in late presentations of this entity due to the low functional reserve and low remyelination capacity.

Las enfermedades del espectro neuromielitis óptica son trastornos inflamatorios del sistema nervioso central caracterizados por una grave desmielinización y daño axonal inmunomediado que afecta principalmente a los nervios ópticos y médula espinal. Suelen presentars e en edades tempranas, aunque existen algunas comunicaciones en la literatura de pacientes con presentaciones tardías. Presentamos el caso de una mujer de 78 años que consultó por un cuadro de paraparesia grave, trastornos sensitivos y retención urinaria. Se realizó una resonancia magnética de columna cervicodorsal que evidenció una lesión medular longitudinal extensa. Se descartaron otras causas secundarias, basadas en la clínica y en resultados de laboratorio. El dosaje de anticuerpos anti-acuaporina 4 resultó positivo. Se indicó tratamiento con glucocorticoides a altas dosis y plasmaféresis, y mantenimiento con rituximab, obteniendo escasa respuesta clínica. En pacientes con lesiones medulares extensas se deben contemplar múltiples diagnósticos diferenciales según la presentación clínica, hallazgos mediante estudios por imágenes y epidemiología. Asimismo, debe incluir la búsqueda de anticuerpos anti-acuaporina 4 y contra la glicoproteína de la mielina del oligodendrocito, ya que el pronóstico funcional de estos pacientes suele ser desfavorable debido al gran componente destructivo de las lesiones. En consecuencia, el tratamiento temprano es fundamental a fin de limitar el daño agudo y prevenir futuras recaídas, lo cual es especialmente importante en presentaciones tardías de esta entidad debido a la escasa reserva funcional y baja capacidad de remielinización.

Bevacizumab for treating Hereditary Hemorrhagic Telangiectasia patients with severe hepatic involvement or refractory anemia.

OBJECTIVE: To report our clinical experience with bevacizumab in a cohort of Hereditary Hemorrhagic Telangiectasia (HHT) patients with severe hepatic involvement and/or refractory anemia. METHODS: Observational, ambispective study of the Institutional Registry of HHT at Hospital Italiano de Buenos Aires. Patients were treated with bevacizumab due to iron deficiency refractory anemia secondary to nasal/gastrointestinal bleeding and/or high output cardiac failure. We describe basal clinical data, bevacizumab schedules, efficacy outcomes and adverse events. Wilcoxon signed ranks test and longitudinal analysis were conducted. RESULTS: Twenty adult patients were included from July 2013 to June 2019. Clinical indications were: 13 for anemia, 4 for heart failure and 3 for both. In the anemia group, median pretreatment hemoglobin was 8.1 g/dl [IQR: 7.2-8.4] and median transfusion requirement was 4 units [2-6]. In heart failure group, pretreatment median cardiac index was 4.5 L/min/m2 [4.1-5.6] and cardiac output was 8.3 L/min [7.5-9.2]. Bevacizumab 5 mg/kg/dose every 2 weeks for 6 applications was scheduled. By the end of induction, median hemoglobin at 3 months was 10.9 g/dl [9.5-12.8] (p = 0.01) and median transfusion requirement 0 units [0-1] (p<0.01), and this effect was more or less sustained during a year. Regarding heart failure group, two patients had complete hemodynamic response and achieved liver transplantation and two had partial response. No serious adverse events were registered. CONCLUSION: Bevacizumab is a promising line of treatment for HHT patients with refractory anemia. For patients with high output cardiac failure, bevacizumab may be useful as bridge therapy awaiting for liver transplantation.

SARS-CoV-2 diagnostic diary: from rumors to the first case. Early reports of molecular tests from the military research and diagnostic institute of Rio de Janeiro

Corona virus disease (COVID-19) presents a serious threat to global health. A historical timeline of early molecular diagnostics from government alert (January 22) (D) was presented. After in silico analysis, Brazilian Army Institute of Biology (IBEx-RJ) tested samples in house using real-time reverse transcriptase polymerase chain reaction (RT-PCR) (fast mode) based on Centers for Disease Control and Prevention (CDC) recommendations. First cases from Brazil, Rio de Janeiro, IBEx, and diagnosis team were reported in D36, D44, D66, and D74 respectively. Therefore, after 1300 tests, we recommend N1/N2 primer sets (CDC) for preliminary and Charité protocol confirmation in case of positive results. Moreover, every professional should be tested before starting work, in addition to weekly tests for everyone involved.

Huge Pulmonary Arteriovenous Malformation, Venous Thromboembolism and Anticoagulation Treatment in a Patient with Hereditary Hemorrhagic Telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT) usually presents in association with pulmonary arteriovenous malformations (PAVMs). In addition, the incidence of venous thromboembolism tends to be increased in these patients. A 74-year-old female with HHT presented with cyanosis and hypoxemia. Contrast-enhanced multislice computed tomography (MSCT) revealed two left PAVMs and one in the right upper lobe. Both left PAVMs were treated with embolotherapy. Follow-up MSCT revealed an incidental pulmonary embolism in the right pulmonary branches. Deep venous thrombosis was confirmed and anticoagulation was initiated. Follow-up MSCT revealed the resolution of thromboembolism. Finally, embolotherapy was performed. This case illustrates the chronic adaptation to hypoxemia and adds further evidence to the relative safety of anticoagulation treatment in these patients.

Early experience with the AMPLATZER vascular plug IV for the occlusion of pulmonary arteriovenous malformations.

The recent generation of AMPLATZER Vascular Plug (AVP; ie, the AVP IV) was used for the occlusion of eight pulmonary arteriovenous malformations (PAVMs) in five patients. A treatment was considered successful when there was a reduction or disappearance of the aneurysmal sac. At a mean follow-up of 20.1 months, no recanalization of PAVMs was observed on multidetector computed tomographic angiography. This shows the AVP IV to be safe and effective as an embolic device to occlude PAVMs.

Malformaciones arteriovenosas pulmonares y complicaciones embólicas en pacientes con telangiectasia hemorrágica hereditaria / Pulmonary Arteriovenous Malformations and Embolic Complications in Patients With Hereditary Hemorrhagic Telangiectasia

Los pacientes con telangiectasia hemorrágica hereditaria (THH) y malformación arteriovenosa pulmonar (MAVP) afrontan un riesgo más elevado de complicaciones embólicas. No está claro si la mala evolución clínica está relacionada con la gravedad de la MAVP o con los síntomas pulmonares. Además, en la actualidad no disponemos de datos de pacientes con THH en Argentina. Llevamos a cabo un estudio transversal en un hospital universitario de Buenos Aires, Argentina. Describimos aquí las características basales de la THH y comparamos la prevalencia de complicaciones embólicas en pacientes con una MAVP significativa frente a la de los pacientes sin una MAVP significativa. Un total de 108 pacientes consecutivos fueron incluidos en el estudio. La MAVP significativa se definió de la siguiente forma: ecocardiografía con contraste de grado 2 o superior; MAVP bilateral o aferencia de más de 3 mm, o tratamiento previo de la MAVP. La variable de valoración combinada primaria se definió como: accidente cerebrovascular, absceso cerebral o embolia periférica. Un 20% de los participantes presentó complicaciones embólicas, la más frecuente de las cuales fue el ictus. Las complicaciones embólicas se asociaron a una MAVP significativa y síntomas respiratorios

Patients with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformation (PAVM) face higher risk of embolic complications. It is not clear whether poor outcomes are related to PAVM severity or pulmonary symptoms. Furthermore, there are currently no available data on HHT patients in Argentina. We conducted a cross sectional study in a teaching hospital in Buenos Aires, Argentina. We describe baseline characteristics of HHT and compare the prevalence of embolic complications in patients with significant PAVM compared to patients without significant PAVM. One hundred and eight consecutive patients were included. Significant PAVM was defined as: contrast echocardiography grade 2 or greater; bilateral PAVM or feeding artery bigger than 3 mm; or previous PAVM treatment. Primary composite outcome was defined as: cerebrovascular accident, cerebral abscess or peripheral embolism. 20% of the participants had embolic complications, and the most frequent one was stroke. Embolic complications were associated with significant PAVM and respiratory symptoms

Pulmonary arteriovenous malformations and embolic complications in patients with hereditary hemorrhagic telangiectasia.

Patients with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arteriovenous malformation (PAVM) face higher risk of embolic complications. It is not clear whether poor outcomes are related to PAVM severity or pulmonary symptoms. Furthermore, there is currently no available data on HHT patients in Argentina. We conducted a cross sectional study in a teaching hospital in Buenos Aires, Argentina. We describe baseline characteristics of HHT and compare the prevalence of embolic complications in patients with significant PAVM compared to patients without significant PAVM. One hundred and eight consecutive patients were included. Significant PAVM was defined as: contrast echocardiography grade 2 or greater; bilateral PAVM or feeding artery bigger than 3mm; or previous PAVM treatment. Primary composite outcome was defined as: cerebrovascular accident, cerebral abscess or peripheral embolism. 20% of participants had embolic complications, the most frequent one was stroke. Embolic complications were associated with significant PAVM and respiratory symptoms.

Espectro de hallazgos abdominales con tomografía computada multidetector en la telangiectasia hemorrágica hereditaria / Spectrum of abdominal findings by multidetector computed tomography in hereditary hemorrhagic telangiectasia

Objetivos de aprendizaje. Demostrar la utilidad de la tomografía computada multidetector (TCMD) en la realización de un protocolo de estudio específico en el diagnóstico, caracterización y diferenciación de las distintas lesiones vasculares abdominales halladas en la telangiectasia hemorrágica hereditaria (THH). Revisión del tema. La telangiectasia hemorrágica hereditaria o síndrome de Rendu-Osler-Weber es una alteración vascular multisistémica, caracterizada por la formación de lesiones angiodisplásicas, en la que existe una comunicación directa entre las arterias y venas, sin una red capilar entre ambas. Es transmitida como un rasgo autosómico dominante, con una prevalencia de 1 a 2 casos cada 10.000 personas. Clínicamente se caracteriza por la presencia de telangiectasias mucocutáneas con hemorragias gastrointestinales y epistaxis recurrentes, así como también por la conformación de shunts que, dependiendo del órgano afectado, pueden causar complicaciones, como hipoxemia, stroke, abscesos cerebrales o falla cardíaca. El diagnóstico se basa en una combinación entre la clínica, el examen físico y los métodos diagnósticos. Hallazgos en imágenes. El papel de la tomografía computada multidetector en el diagnóstico de la telangiectasia hemorrágica hereditaria adquiere cada vez mayor relevancia, ya que permite obtener imágenes de alta resolución espacial y temporal con un protocolo multifásico específico. Éste consiste en la realización de una fase arterial precoz, una fase arterial tardía (a los 20 segundos de la anterior) y una fase venosa (a los 40 segundos de la primera). De acuerdo con su comportamiento en las diferentes fases, podemos identificar lesiones como telangiectasias, masas vasculares confluentes, trastornos de la perfusión hepática, shunts arteriovenosos, arterioportales, porto-venosos y aneurismas arteriales. Conclusión. La tomografía computada multidetector, debido a su alta resolución témporo-espacial y a un protocolo específico multifásico...

Espectro de hallazgos abdominales con tomografía computada multidetector en la telangiectasia hemorrágica hereditaria / Spectrum of abdominal findings by multidetector computed tomography in hereditary hemorrhagic telangiectasia

Objetivos de aprendizaje. Demostrar la utilidad de la tomografía computada multidetector (TCMD) en la realización de un protocolo de estudio específico en el diagnóstico, caracterización y diferenciación de las distintas lesiones vasculares abdominales halladas en la telangiectasia hemorrágica hereditaria (THH). Revisión del tema. La telangiectasia hemorrágica hereditaria o síndrome de Rendu-Osler-Weber es una alteración vascular multisistémica, caracterizada por la formación de lesiones angiodisplásicas, en la que existe una comunicación directa entre las arterias y venas, sin una red capilar entre ambas. Es transmitida como un rasgo autosómico dominante, con una prevalencia de 1 a 2 casos cada 10.000 personas. Clínicamente se caracteriza por la presencia de telangiectasias mucocutáneas con hemorragias gastrointestinales y epistaxis recurrentes, así como también por la conformación de shunts que, dependiendo del órgano afectado, pueden causar complicaciones, como hipoxemia, stroke, abscesos cerebrales o falla cardíaca. El diagnóstico se basa en una combinación entre la clínica, el examen físico y los métodos diagnósticos. Hallazgos en imágenes. El papel de la tomografía computada multidetector en el diagnóstico de la telangiectasia hemorrágica hereditaria adquiere cada vez mayor relevancia, ya que permite obtener imágenes de alta resolución espacial y temporal con un protocolo multifásico específico. Este consiste en la realización de una fase arterial precoz, una fase arterial tardía (a los 20 segundos de la anterior) y una fase venosa (a los 40 segundos de la primera). De acuerdo con su comportamiento en las diferentes fases, podemos identificar lesiones como telangiectasias, masas vasculares confluentes, trastornos de la perfusión hepática, shunts arteriovenosos, arterioportales, porto-venosos y aneurismas arteriales. Conclusión. La tomografía computada multidetector, debido a su alta resolución témporo-espacial y a un protocolo específico multifásico...(AU)