ABSTRACT
OBJECTIVE: To evaluate the clinical features in a large cohort of pediatric patients with genetically confirmed hereditary hemorrhagic telangiectasia (HHT) and to identify possible predictors of arteriovenous malformation (AVM) onset or clinical significance. STUDY DESIGN: Prospective cross-sectional survey of all children subjected to screening for AVMs in the multidisciplinary HHT center. All patients proved to be carriers of endoglin mutations or activin A receptor type-II-like kinase 1 mutations, defined as HHT1 and HHT2, respectively. A full clinical-radiological protocol for AVM detection was adopted, independent from presence or absence of AVM-related symptoms. RESULTS: Forty-four children (mean age, 10.3 years; range, 1-18) were subjected to a comprehensive clinical-radiologic evaluation. This investigation disclosed cerebrovascular malformations in 7 of 44 cases, pulmonary AVMs in 20 of 44 cases, and liver AVMs in 23 of 44 cases. Large visceral AVMs were found in 12 of 44 children and were significantly more frequent in patients with HHT1. Only large AVMs were associated with symptoms and complications. CONCLUSIONS: Children with HHT have a high prevalence of AVMs; therefore, an appropriate clinical and radiological screening protocol is advisable. Large AVMs can be associated with complications in childhood, whereas small AVMs probably have no clinical risk.
Subject(s)
Arteriovenous Malformations/etiology , Telangiectasia, Hereditary Hemorrhagic/complications , Adolescent , Arteriovenous Malformations/epidemiology , Arteriovenous Malformations/genetics , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Male , Prevalence , Prospective Studies , Telangiectasia, Hereditary Hemorrhagic/geneticsABSTRACT
It is unclear whether pulmonary arteriovenous malformations (PAVMs) in hereditary hemorrhagic telangiectasia develop later in life or are preformed in childhood. We show that the prevalence of PAVMs in children is similar to that in their parents, providing evidence against de novo PAVM formation in hereditary hemorrhagic telangiectasia.
Subject(s)
Arteriovenous Malformations/epidemiology , Arteriovenous Malformations/etiology , Pulmonary Artery , Pulmonary Veins , Telangiectasia, Hereditary Hemorrhagic/complications , Adolescent , Adult , Arteriovenous Malformations/genetics , Child , Child, Preschool , Female , Humans , Infant , Male , Parents , Prevalence , Retrospective Studies , Telangiectasia, Hereditary Hemorrhagic/geneticsABSTRACT
Introducción: Las malformaciones arteriovenosas pulmonares (MAVP) son infrecuentes y la cirugía tiene un rol en casos seleccionados. Objetivos: Describir las características clínicas, métodos diagnósticos y rol del tratamiento quirúrgico en pacientes tratados con cirugía por MAVP. Materialy Método: Revisión retrospectiva, incluyendo todos los pacientes con diagnóstico de MAVP en quienes se realizó cirugía en el Instituto Nacional del Tórax, desde febrero de 2005 a febrero de 2010. El seguimiento fue por control médico o contacto telefónico. Resultados: Se analizó 8 pacientes, seis mujeres (relación 3:1), edad entre 16 y 68 años. Los síntomas y signos más frecuentes fueron: disnea, cianosis y acropaquia. La localización más frecuente fue el lóbulo inferior derecho. Cuatro pacientes tenían MAVP múltiples y cuatro cumplían con criterios de Enfermedad de Rendu-Osler-Weber Seis tenían policitemia y dos anemia. La radiografía fue anormal en todos los casos y la tomogrqfía computada definió la anatomía en siete. Angiogrqfia se realizó en tres casos. Dos tenían ecocardiograma con contraste y cuatro cintigrama. La cirugía más frecuente fue la lobectomía. La indicación de cirugía fue: tamaño de la MAVP en cinco, falla de embolización en dos y hallazgo intra operatorio en uno, intervenido por otra razón. Uno presentó hemorragia post-operatoria. La estadía post-operatoria fue entre 2 y 10 días. No hubo mortalidad. En el último control todos los pacientes estaban asintomáticos. Conclusión: Las MAVPpueden presentarse en un amplio espectro clínico y anatómico. Pueden generar síntomas y complicaciones graves, por esto se recomienda tratarlas. El estudio pre-operatorio se basa en demostrar el shunt y en determinar las características anatómicas de la lesión. En algunos casos seleccionados está indicada la cirugía resectiva pulmonar.
Background: Pulmonary arteriovenous malformations (PA VM) are rare and surgery has a role only in selected cases. Our objectives are to describe clinical features, diagnostic methods and role of surgical treatment in patients with PA VM. Methods: Retrospective review of all patients with PA VM, in whom surgery was performed in our institution, from February 2005 to February 2010. The follow up controls were done through physician or telephone contact. Results: 8 patients, six females (3:1), aged between 16-68 years were analyzed. Most common sigiis and symptoms were dyspnea, cyanosis and clubbing. Right lower lobe was the most frequent location. Four had multiple PA VM and four met criteria for Rendu-Osler- Weber disease. Six patients had polycythemia and two anemia. Radiography was abnormal in all and computed tomography defined anatomy in seven. Angiography was performed in three, two had contrasted echocardiography and four had scintigraphy. Most common surgical treatment was lobectomy. Indications for surgery were the size of PA VM in five cases, failure of embolization in two and one because of intra-operative findings, without a previous diagrwsis. One had postoperative bleeding. Discharge was between day 2 and 10 days after surgery. There was no mortality. At their last control all patients were asymptomatic. Conclusion: PA VM presents a wide and varied range of clinical and anatomical findings. They can cause major symptoms and serious complications, which justify their treatment. The preoperative study is based primarily on demonstrating the shunt and determining the anatomical characteristics of the lesion. In selected cases lung resection surgery is indicated.
Subject(s)
Humans , Male , Adolescent , Adult , Female , Middle Aged , Pulmonary Artery/abnormalities , Arteriovenous Malformations/surgery , Arteriovenous Malformations/diagnosis , Thoracic Surgical Procedures/methods , Angiography , Follow-Up Studies , Arteriovenous Fistula/diagnosis , Length of Stay , Arteriovenous Malformations/epidemiology , Pneumonectomy , Radiography, Thoracic , Retrospective Studies , Signs and Symptoms , Tomography, X-Ray Computed , Telangiectasia, Hereditary Hemorrhagic/diagnosisABSTRACT
Hemangioma, vascular malformation and varix are benign vascular lesions, common in the head and neck regions. Studies about the prevalence of these lesions in the oral cavity are scarce. The aim of this study was to estimate the prevalence of and to obtain clinical data on oral hemangioma, vascular malformation and varix in a Brazilian population. Clinical data on those lesions were retrieved from the clinical forms from the files of the Oral Diagnosis Service, School of Dentistry, Federal University of Minas Gerais, Brazil, from 1992 to 2002. Descriptive analysis was performed. A total of 2,419 clinical forms in the 10-year period were evaluated, of which 154 (6.4%) cases were categorized as oral hemangioma, oral vascular malformation or oral varix. Oral varix was the most frequent lesion (65.6%). Females had more oral hemangioma and oral varix than males. Oral vascular malformation and oral varix were more prevalent in the 7th and 6th decades, respectively. Oral hemangioma and oral varix were more prevalent in the ventral surface of the tongue and oral vascular malformation, in the lips. Oral hemangioma was treated with sclerotherapy (54.5%), and vascular malformation was managed with sclerotherapy and surgery (19.4% each). The data of this study suggests that benign vascular lesions are unusual alterations on the oral mucosa and jaws.
Subject(s)
Arteriovenous Malformations/epidemiology , Hemangioma/epidemiology , Mouth Neoplasms/epidemiology , Varicose Veins/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Arteriovenous Malformations/pathology , Brazil/epidemiology , Child , Child, Preschool , Female , Hemangioma/classification , Hemangioma/pathology , Humans , Infant , Infant, Newborn , Male , Middle Aged , Mouth Mucosa/blood supply , Mouth Neoplasms/classification , Mouth Neoplasms/pathology , Varicose Veins/pathologyABSTRACT
Hemangioma, vascular malformation and varix are benign vascular lesions, common in the head and neck regions. Studies about the prevalence of these lesions in the oral cavity are scarce. The aim of this study was to estimate the prevalence of and to obtain clinical data on oral hemangioma, vascular malformation and varix in a Brazilian population. Clinical data on those lesions were retrieved from the clinical forms from the files of the Oral Diagnosis Service, School of Dentistry, Federal University of Minas Gerais, Brazil, from 1992 to 2002. Descriptive analysis was performed. A total of 2,419 clinical forms in the 10-year period were evaluated, of which 154 (6.4 percent) cases were categorized as oral hemangioma, oral vascular malformation or oral varix. Oral varix was the most frequent lesion (65.6 percent). Females had more oral hemangioma and oral varix than males. Oral vascular malformation and oral varix were more prevalent in the 7th and 6th decades, respectively. Oral hemangioma and oral varix were more prevalent in the ventral surface of the tongue and oral vascular malformation, in the lips. Oral hemangioma was treated with sclerotherapy (54.5 percent), and vascular malformation was managed with sclerotherapy and surgery (19.4 percent each). The data of this study suggests that benign vascular lesions are unusual alterations on the oral mucosa and jaws.
Hemangioma, malformação vascular e variz são lesões vasculares benignas comuns na região de cabeça e pescoço. Estudos sobre a prevalência dessas lesões em boca são escassos. O objetivo deste estudo foi estimar a prevalência e realizar um levantamento de dados clínicos de hemangioma, malformação vascular e variz de boca. Dados clínicos dessas lesões foram consultados em fichas clínicas do arquivo do Serviço de Diagnóstico Oral da Universidade Federal de Minas Gerais, Brasil, no período de 1992 a 2002. Uma análise descritiva foi realizada. Foram obtidas neste período de 10 anos 2.419 fichas clínicas. Cento e cinqüenta e quatro (6,4 por cento) casos foram categorizados como hemangioma, malformação vascular e variz de boca. Variz de boca foi a lesão mais freqüente (65,6 por cento). Mulheres foram mais acometidas pelos hemangiomas e varizes de boca. Malformação vascular e variz de boca foram mais prevalentes na 7ª e 6ª décadas de vida, respectivamente. A localização prevalente do hemangioma e da variz de boca foi a superfície ventral da língua, e da malformação vascular, os lábios. Hemangioma de boca foi tratado com escleroterapia em 54,5 por cento dos casos e a malformação vascular com escleroterapia e cirurgia em 19,4 por cento cada. Este estudo sugere que lesões vasculares benignas são alterações incomuns na mucosa bucal e nos maxilares.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Arteriovenous Malformations/epidemiology , Hemangioma/epidemiology , Mouth Neoplasms/epidemiology , Varicose Veins/epidemiology , Arteriovenous Malformations/pathology , Brazil/epidemiology , Hemangioma/classification , Hemangioma/pathology , Mouth Mucosa/blood supply , Mouth Neoplasms/classification , Mouth Neoplasms/pathology , Varicose Veins/pathologyABSTRACT
Hereditary hemorrhagic telangiectasia (HHT) has been reported rarely in people of African descent. The prevalence in the Afro-Caribbean population of the Netherlands Antilles is suspected to be high. A family screening in this population was done to arrive at a point prevalence and to identify patients with pulmonary involvement. By clinical history and physical examination, 219 persons over age twelve with a first-degree relative with HHT were screened. The diagnosis was based on the new diagnostic criteria [Shovlin et al., 2000]. Chest-roentgenogram and pulse-oximetry or measurement of arterial oxygen pressure were used to detect pulmonary involvement. HHT was diagnosed in 112 individuals (51%), with at least a point prevalence of 1 in 1,331 inhabitants of Curaçao and Bonaire older than twelve years. The diagnosis was uncertain in 27; this was partly due to the new stringent criteria. Epistaxis was present in 98% and telangiectases in 99%. Facial telangiectases were relatively rare due to pigmented skin. Pulmonary involvement was found in 28% with serious-mainly neurological-complications in 48%. The point-prevalence of HHT in the Afro-Caribbean population of the Netherlands Antilles is the highest known in the world. Pulmonary involvement in this population is not rare and causes serious complications.