Presence Of Telangiectases Research Articles

Artículo traducido] Tratamiento comparativo de lesiones mucocutáneas en pacientes con telangiectasia hemorrágica hereditaria con láser dual secuencial de colorante pulsado y neodimio: itrio-aluminio-granate versus neodimio: itrio-aluminio-granate solo: un estudio controlado aleatorizado doble ciego con evaluación de la calidad de vida

BackgroundHereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. ObjectiveTo evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. MethodsA comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. Results111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2–4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2–3; mean 2.61) vs 2 (IQR 2–3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. ConclusionsDWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments.

Comparative Treatment of Mucocutaneous Lesions in Hereditary Haemorrhagic Telangiectasia Patients With Dual Sequential Pulsed Dye Laser and Neodymium: Yttrium-Aluminium-Garnet Versus Neodymium: Yttrium-Aluminium-Garnet Laser Alone: A Double-Blind Randomized Controlled Study With Quality-of-Life Evaluation

BackgroundHereditary haemorrhagic telangiectasia (HHT) is characterized by the presence of telangiectases and larger arteriovenous malformations in different organs. Mucocutaneous telangiectases can bleed and become an aesthetic concern, impairing quality of life (QoL). However, the best treatment approach has not been defined yet. ObjectiveTo evaluate the efficacy and safety of dual wavelength sequential 595/1064nm laser (DWSL) compared to 1064nm laser (Nd:YAG) alone. Secondarily, to evaluate QoL impairment in HHT patients, and its improvement with laser therapy. MethodsA comparative randomized split-body double-blinded prospective study (DWSL vs Nd:YAG). Demographic, clinical and treatment characteristics were recorded. The severity and degree of improvement were evaluated by three blinded examiners who scored pre-treatment and post-treatment pictures on a 5-point scale. Patients fulfilled Skindex-29 and FACE-Q® tests and assessed procedure-associated pain and patient satisfaction. Results111 treatment areas (55 treated with DWSL and 56 with Nd:YAG) from 26 patients were analyzed. The median number of laser sessions was 2 (interquartile range [IQR] 2–4; mean 2.90 vs 2.88, respectively). The median improvement score, irrespective of location, was significantly higher for Nd:YAG compared to DWSL: 3 (IQR 2–3; mean 2.61) vs 2 (IQR 2–3; mean 2.32), p=0.031. Both FACE-Q index and Skindex-29 test results improved significantly (p<0.001), and 92.4% patients reported a high degree of satisfaction (≥8). No severe adverse events were reported. ConclusionsDWSL and Nd:YAG laser are convenient, safe and effective treatment options for mucocutaneous telangiectases in HHT patients. However, Nd:YAG delivered better results with better tolerability. QoL was significantly improved by both treatments.

Index of Suspicion

Index of Suspicion

Genotype–phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease characterized by arteriovenous malformations (AVMs) ranging from telangiectases to larger AVMs. Mutations in two genes cause HHT; ENG (HHT1) and ACVRL1 (HHT2). Although the hallmark for clinical diagnosis is the presence of telangiectases, there are few publications reporting the relative distribution and frequency of these features between HHT1 and HHT2. Here, the results of such analysis of telangiectases in 268 patients with HHT1 and 130 patients with HHT2 are described. Localization of the telangiectases is reported, and patients were clustered by age to estimate the site prevalence for different age categories. We show that telangiectases of the nasal mucosa are present at a higher prevalence and start to appear earlier in life than those of the oral mucosa or dermal sites in patients with either HHT1 or HHT2. Oral and nasal mucosal telangiectases are present earlier in life in patients with HHT1 compared to patients with HHT2, whereas dermal lesions are more frequent and appear earlier in life in patients with HHT2. In patients with either HHT1 or HHT2, the number of sites affected increases with age. In patients with HHT1, more women than men had skin telangiectases, particularly on the face. These results confirm that the frequency of AVMs differ between patients with HHT1 and HHT2, and that these differences can be detected on physical examination.

Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia

BackgroundHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by the presence of telangiectases and arteriovenous malformations. In some families in whom a form of idiopathic pulmonary arterial hypertension cosegregated with HHT, mutations in the ACVRL1 gene were present. PurposeWe noninvasively measured the pulmonary artery systolic pressure (PASP) in a group of patients with HHT. MethodsDoppler transthoracic echocardiography and mutation analysis by direct sequencing were used. ResultsWe studied 68 patients (age 19–84 years, mean 50.75 + 15.11; 32 females) and PASP measurement was possible in 44 (64. 7%); in addition, 9 of them (20.5%) showed elevated values. Molecular analysis identified mutations in the ACVRL1 gene in 7 of these 9 subjects. Even on exclusion of relatives of the single case with known pulmonary hypertension, 5 of 37 patients (13.5%) still showed values higher than those of controls. ConclusionThe data indicate that elevated PASP values are a frequent and previously unrecognized complication of HHT. Because clinically significant pulmonary artery hypertension (a relevant cause of morbidity and mortality) may subsequently develop in these patients, we propose that the measurement of PASP should be included among the parameters recorded for all patients undergoing Doppler transthoracic echocardiography during routine clinical screening.

La enfermedad de Rendu-Osler-Weber. Estudio descriptivo de 17 casos

To study the prevalence and presentation forms of hereditary hemorrhagic telangiectasia (HHT) among the population in our hospital area. Descriptive, retrospective study of patients with the diagnosis of HHT from to 1999 at La Fe Hospital, Valencia. Family history, repeated epistaxis, mucocutaneous telangiectasis and visceral lesions, as well as administered treatments, and clinical course were evaluated. Seventeen patients were diagnosed during such time period, with ages ranging from 23 to 80 years. Eight patients had family histories. The most common symptoms included epistaxis and iron-deficiency anemia, followed by muco-cutaneous telangiectasis. Six patients had neurological, five pulmonary, five gastrointestinal, and three hepatic manifestations, usually secondary to vascular malformations at those levels. The prevalence of the disease maybe higher than previously reported. This disease should be considered in patients with repeated epistaxis and/or iron-deficiency anemia. The presence of telangiectasis that can suggest the diagnosis should be investigated. An early diagnosis of HHT can be useful for the early control of associated visceral malformations. Treatment of HHT should be tailored according to the clinical manifestations of the patient.

Current trends in the diagnosis and management of Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia)

Hereditary hemorrhagic telangiectasia, also known as Osler- Weber-Rendu disease, is a hereditary syndrome characterized by the presence of vascular abnormalities throughout the body. It is important to keep in mind that patients with this rare disease will have life-threatening pathologic findings beyond those in the head and neck. The disease is recognized most commonly by the presence of telangiectases on the skin and mucous membranes of the body, particularly inside the nose. The classic patient has a history of a recurrent epistaxis and a familial pattern of telangiectases.