Management of hereditary hemorrhagic telangiectasia-like symptoms induced by trastuzumab emtansine in a breast cancer patient: case report.

Trastuzumab emtansine (T-DM1) is a targeted therapy combining trastuzumab and emtansine for human epidermal growth factor receptor 2(HER2)-positive breast cancer, with common side effects including fatigue, nausea, pain, headache, low platelet count, and elevated liver enzymes. Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by vascular malformations and telangiectasias in various organs. We present a case of a female patient with advanced breast cancer who developed HHT-like symptoms while on T-DM1 treatment. A 59-year-old woman treated with radiotherapy and T-DM1 every 21 days developed recurring nosebleeds and mucocutaneous and liver telangiectasias indistinguishable from HHT three months after receiving the first dose of T-DM1. Other organ vascular malformations were ruled out through screening protocols. The patient had no previous HHT symptoms or family history. Nasal care measures like lubrication and antifibrinolytics (tranexamic acid) were provided. In addition, propranolol was also prescribed due to its antiangiogenic and antitumoral properties, leading to significantly decreased epistaxis and telangiectasias. Microtubule disruptions caused by T-DM1, along with other angiogenic mechanisms may contribute to the development of telangiectasias resembling HHT. The use of propranolol, an initial approach for HHT, proved to be effective in this case. It is crucial for oncologists and HHT specialists to be aware of this rare adverse event associated with T-DM1 and to implement appropriate management strategies.

Distal penile pyogenic granuloma: A case report.

Key Clinical Message: The mainstays of treatment for granuloma pyogenicum include careful evaluation of any penile growth, thorough excision of the polypoid, histological examination, and close monitoring to check relapse and management. Abstract: Pyogenic granuloma is an acquired noncancerous vascular proliferation that arises from the mucosa and skin, seldom subcutaneously or intravascularly. It is also referred to as telangiectasis granuloma or lobular capillary haemangioma. The risk factors include vascular abnormalities, medicines, hormones, and microtrauma. We discussed the case of a 24-year-old man who had a poorly managed ventral distal penile polypoid lesion at a peripheral hospital. Upon further histopathological examination, the diagnosis of pyogenic granuloma was made. Histopathologically speaking, the term "pyogenic granuloma" is misleading because the illness is not linked to the production of granulomas. Pyogenic granuloma's etiopathogenesis is still unknown; true hemangioma is thought to be a reactive hyperproliferative of the vasculature brought on by a variety of stimuli; pyogenic granuloma may be caused by uneven angiogenic factor production in response to minor local trauma or cutaneous disease. Histopathological analysis and surgical excision are the methods used for diagnosis and treatment. The mainstay of treatment for granuloma pyogenic granuloma includes careful evaluation of any penile growth, thorough excision of the polypoid, histological examination, close follow-up to check for relapse, and early management.

Subfoveal Nodule Affecting Visual Prognosis in Coats Disease.

PURPOSE: To investigate the characteristics of subfoveal nodules in Korean patients with Coats disease and their association with visual outcomes. METHODS: A retrospective analysis was conducted within the medical records of patients with stage 2B or 3A1 Coats disease, including clinical features, imaging, presence of either a subfoveal nodule or macular fibrosis, and visual outcome. RESULTS: Twelve patients were present with stage 2B or 3A1 Coats disease, and nine patients (75%) presented with subfoveal nodule. Between the group without subfoveal nodule and the group with subfoveal nodule, there were no significant differences in age (mean, 14.0 ± 1.7 years vs. 27.7 ± 21.8 years; p = 0.482), sex (all men), stage of the disease (stage 2B: three patients vs. eight patients, p > 0.999; stage 3A1: none vs. one patient, p > 0.999), extension of retinal exudation (mean, 7.7 hours vs. 4.1 hours; p = 0.209) and peripheral telangiectasia (mean, 3.7 hours vs. 4.2 hours; p = 0.727), and follow-up duration (mean, 65.0 months vs. 46.1 months; p = 0.600). There were significantly more patients with severe visual loss (≤20 / 200) among the patients with subfoveal nodule (none vs. seven patients, p = 0.045), and the cause for severe visual loss was macular fibrosis in all cases. Macular fibrosis developed significantly more frequently in the patients with subfoveal nodule (none vs. seven = patients, p = 0.045). CONCLUSIONS: This study is the first study covering the analysis of subfoveal nodules in Korean patients with Coats disease. The existence of a subfoveal nodule at the initial diagnosis serves as an indicator predicting the development of macular fibrosis and a less favorable visual outcome in the patients with Coats disease. A multicenter study with a larger patient pool and further studies toward the therapeutic approach for the subfoveal nodule and macular fibrosis are needed.

Dexamethasone intravitreal implant as an adjuvant treatment for pediatric patients with Coats' disease / Implante intravítreo de dexametasona como tratamento adjuvante em pacientes pediátricos com doença de Coats

ABSTRACT We report two cases of stage 3A unilateral Coats' disease in pediatric patients. In both cases, disease control was achieved using a dexamethasone intravitreal implant in addition to other treatments. The treatment improved visual acuity in one patient and prevented the worsening of the decline in visual acuity in the other patient during follow-up periods of 7 and 3 years, respectively. One of the patients presented an increase in intraocular pressure, which was controlled with topical antiglaucoma medication, but developed a cataract that required surgery. In conclusion, dexamethasone intravitreal implant may be a useful adjuvant treatment to consider in some pediatric cases with Coats' disease.

RESUMO Relatamos dois casos de doença de Coats em estágio 3A unilateral em pacientes pediátricos. Em ambos os casos, o controle da doença foi obtido com implante intravítreo de dexametasona, além de outros tratamentos, com melhora da acuidade visual em um caso e sem piora da visão no outro, durante um período de acompanhamento de 7 e 3 anos. Um dos casos apresentou elevação da pressão intraocular controlada com medicação antiglaucoma tópica e desenvolveu catarata que exigiu cirurgia. Em conclusão, o implante intravítreo de dexametasona pode ser um tratamento adjuvante útil a ser considerado em alguns casos pediátricos com doença de Coats.

Acute Spontaneous Colonic Perforation in a Case of Newly Confirmed Scleroderma: Case Report.

Scleroderma is a group of autoimmune diseases that principally affects the skin, blood vessels, muscles, and viscera. One of the more well-known subgroups of scleroderma is the limited cutaneous form of the multisystem connective tissue disorder known as CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasis) syndrome. In this report, we present a case of a spontaneous colonic bowel perforation in a patient with incomplete features of CREST. Our patient underwent a complicated hospital course involving broad-spectrum antibiotic coverage, surgical hemicolectomy, and immunosuppressives. She was eventually discharged home with a return to functional baseline status after esophageal dysmotility confirmation via manometry. Physicians managing patients with scleroderma ensuing to an emergency department encounter must anticipate the multitude of complications that can occur, as was seen in our patient. The threshold for pursuing imaging and additional tests, in addition to admission, should be relatively low, given the extremely high rates of complications and mortality. Early multidisciplinary involvement with infectious disease, rheumatology, surgery, and other respective specialties is crucial for patient outcome optimization.

Application of contrast-enhanced ultrasound in hemothorax of hereditary hemorrhagic telangiectasia: A case report and literature review.

Hereditary hemorrhagic telangiectasis (HHT) is an autosomal dominant hereditary disease, which can lead to abnormal angiogenesis. We performed contrast-enhanced ultrasound (CEUS) in a patient with HHT represented with hemothorax. After targeted embolization, the condition of hemothorax improved. In this case, we explore the use of CEUS to locate the responsible vessel of hemothorax, and found that CEUS could be used as a complementary preoperative method of localization with computed tomography angiography (CTA).

Cirugía por radiofrecuencia una alternativa terapéutica en la Insuficiencia Venosa Crónica / Radiofrequency surgery a therapeutic alternative in Chronic Venous Insufficiency / Cirurgia de Radiofrequência uma alternativa terapêutica na Insuficiência Venosa Crônica

La insuficiencia venosa crónica es una patología caracterizada por dificultar el retorno venoso hacia el corazón, se estima que el 90% de la población, padecerá de esta patología en algún momento de la vida, no obstante, su impacto toca la esfera socioeconómica, laboral e inclusive estética del paciente. Clínicamente se manifiesta con telangiectasias, venas varicosas e inclusive úlceras venosas por estasis, el cuadro se acompaña de dolor, cansancio, sensación de pesadez a nivel de miembros inferiores. Objetivo. Establecer los beneficios de la ablación por radiofrecuencia en el tratamiento de la insuficiencia venosa crónica estadificada de acuerdo con la CEAP (Clasificación clínica, etiológica, anatómica, fisiopatológica) en el Hospital Instituto Ecuatoriano de Seguridad Social en la ciudad de Riobamba, en el período 2018-2020. Materiales y Métodos. Se presenta un estudio retrospectivo de corte transversal, realizado en 75 pacientes intervenidos con radiofrecuencia en el Instituto Ecuatoriano de Seguridad Social (IESS) Riobamba, en el período 2018-2020 quienes voluntariamente decidieron participar en el estudio. Resultados. Se obtuvo que esta patología se presenta en un 68% en el sexo femenino y en un 32% en el sexo masculino, de la población total el 60% presentó sobrepeso y el 40% presentó obesidad, mediante la clasificación CEAP se categorizó en C3 al 58.7 % seguido de C2 al 32%, los pacientes de esta última categoría mostraron mejoría dentro de los 6 meses posteriores a la intervención. Conclusiones. La ablación por radiofrecuencia es una técnica quirúrgica efectiva en el tratamiento de los troncos safenos insuficientes, con excelentes resultados postquirúrgicos y en la calidad de vida del paciente.

Chronic venous insufficiency is a pathology characterized by hindering venous return to the heart, it is estimated that 90% of the population will suffer from this pathology at some point in life, however, its impact touches the socioeconomic, labor and even aesthetic sphere of the patient. Clinically it manifests with telangiectasias, varicose veins and even venous stasis ulcers, the picture is accompanied by pain, fatigue, feeling of heaviness in the lower limbs. Objective. To establish the benefits of radiofrequency ablation in the treatment of chronic venous insufficiency staged according to the CEAP (Clinical, etiological, anatomical, pathophysiological classification) in the Hospital Instituto Ecuatoriano de Seguridad Social in the city of Riobamba, in the period 2018-2020. Materials and Methods. A retrospective cross-sectional study is presented, performed in 75 patients intervened with radiofrequency at the Instituto Ecuatoriano de Seguridad Social (IESS) Riobamba, in the period 2018-2020 who voluntarily decided to participate in the study. Results. It was obtained that this pathology is presented in 68% in the female sex and 32% in the male sex, of the total population 60% presented overweight and 40% presented obesity, by CEAP classification was categorized in C3 to 58.7% followed by C2 to 32%, the patients of this last category showed improvement within 6 months after the intervention. Conclusions. Radiofrequency ablation is an effective surgical technique in the treatment of insufficient saphenous trunks, with excellent post-surgical results and in the patient's quality of life.

A insuficiência venosa crônica é uma patologia caracterizada pela dificuldade de retorno venoso ao coração. Estima-se que 90% da população sofrerá desta patologia em algum momento de suas vidas; entretanto, seu impacto afeta a esfera sócio-econômica, ocupacional e até estética do paciente. Clinicamente, manifesta-se com telangiectasias, varizes e até mesmo úlceras de estase venosa, acompanhadas de dor, cansaço e uma sensação de peso nos membros inferiores. Objetivo. Estabelecer os benefícios da ablação por radiofreqüência no tratamento da insuficiência venosa crônica encenada de acordo com a CEAP (classificação clínica, etiológica, anatômica, fisiopatológica) no Hospital Instituto Ecuatoriano de Seguridad Social na cidade de Riobamba, no período de 2018-2020. Materiais e métodos. É apresentado um estudo transversal retrospectivo, realizado em 75 pacientes que intervieram com radiofreqüência no Instituto Equatoriano de Seguridade Social (IESS) Riobamba, no período de 2018-2020, que voluntariamente decidiram participar do estudo. Resultados. Obteve-se que esta patologia ocorre em 68% no sexo feminino e 32% no sexo masculino, da população total 60% apresentava sobrepeso e 40% apresentava obesidade, pela classificação CEAP foi categorizada em C3 a 58,7% seguido por C2 a 32%, os pacientes desta última categoria apresentaram melhora em 6 meses após a intervenção. Conclusões. A ablação por radiofrequência é uma técnica cirúrgica eficaz no tratamento de troncos de safena insuficientes, com excelentes resultados pós-cirúrgicos e na qualidade de vida do paciente.

Investigation of Prognostic Factors for Intense Pulsed Light Treatment with a Vascular Filter in Patients with Moderate or Severe Meibomian Gland Dysfunction.

We aimed to investigate the prognostic factors for, and treatment efficacy of, intense pulsed light (IPL) treatment with a vascular filter in patients with moderate or severe meibomian gland dysfunction (MGD). In this retrospective observational study, 58 moderate or severe MGD patients who underwent IPL treatment with a vascular filter were enrolled. IPL treatment was administered to the upper and lower eyelids four times at two-week intervals. At baseline, and four weeks after IPL, we evaluated the matrix metalloproteinase (MMP)-9 expression levels, tear break-up times (TBUT), ocular surface staining scores, lid margin telangiectasias, and meibomian gland characteristics. The subjective symptoms and adverse effects were reviewed and recorded. Regression analyses were performed to explore the prognostic factors affecting clinical outcomes. IPL treatment using a vascular filter led to improvements in the TBUT, ocular surface staining score, meibomian gland grade, meibum quality and consistency, lid margin telangiectasia, and symptom score (all p < 0.001). Furthermore, the positivity rate (90.2% to 70.6%, p = 0.013) and expression levels (1.92 ± 1.18 to 1.24 ± 1.18, p < 0.001) of tear MMP-9 improved after the IPL treatment. In multivariate logistic regression analysis, a young age (odds ratio = 0.867, p = 0.007) and a toothpaste-like consistency in the upper lid (odds ratio = 8.449, p = 0.046) were associated with improvements in the meibomian gland grade. No adverse effects were detected. IPL with a vascular filter is a safe and effective treatment for moderate and severe MGD. Age and the meibum consistency in the upper lid are important prognostic factors.

A Rare Case of Hereditary Hemorrhagic Telangiectasia: A Case Report.

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a very rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucus membranes (called telangiectasia), and organs such as the lung, liver, and brain. It occurs due to a mutation in one of the ACVRL1, ENG, and SMAD4 genes, which code for the formation of blood vessels. The most common symptom is recurring nosebleed (epistaxis; due to rupture of nasal mucosal telangiectasia), which begins in childhood and affects about 90-95% of people with HHT. Other common signs and symptoms include punctate, linear, or splinter-like telangiectasias on the upper body, oral mucosa, or nail beds, gastrointestinal bleeding, and iron deficiency anemia. The diagnostic criteria currently in use are the Curaçao criteria. The diagnosis is made by clinical screening (e.g., history and physical exam), baseline investigations (complete blood count, hemoglobin, hematocrit, and ferritin level), genetic testing, and detailed medical imaging to detect visceral arteriovenous malformations (AVMs) such as esophagogastroduodenoscopy, colonoscopy, multiphase contrast CT, computed tomography angiography (CTA or CT Angio), magnetic resonance angiography (MRA), chest X-ray, Doppler ultrasonography, liver biopsy, and cerebral angiography. Management includes intravenous iron therapy or blood transfusion, antifibrinolytics (e.g tranexamic acid), ablation therapies (e.g. laser treatment, radiofrequency ablation, electrosurgery, sclerotherapy, and argon plasma coagulation), and systemic anti-angiogenic agents (e.g. thalidomide, bevacizumab). In this report, we present the case of a 22-year-old man from Swabi, Pakistan, with a history of recurrent epistaxis (nosebleed) from childhood, who presented with multiple episodes of melena (blood in stool), fatigue, palpitation, and iron deficiency anemia for five years. Multiple esophagogastroduodenoscopies (OGDs) and colonoscopies were done over the years, which showed AVM in the antrum and fundus of the stomach, duodenum, and colon, and a diagnosis of HHT was made. CTA and exploratory laparotomy showed ileal loop hemangiomas. He was managed with multiple blood transfusions, argon plasma coagulation (APC) for the AVMs, oral thalidomide, and steroids. Despite therapy, the patient had intermittent episodes of blood in stool and low blood counts. During his stay in Hayatabad Medical Complex (HMC), the patient was managed with high-frequency blood transfusion and bevacizumab (systemic anti-angiogenic agent). A dramatic reduction in the number of required transfusions and improvement in the patient's bloodlines and symptoms was noted. This case highlights the importance of endoscopic methods for the timely diagnosis of HHT and its management with intravenous bevacizumab.

Duration of effectiveness of coblation for recurrent epistaxis in hereditary hemorrhagic telangiectasia.

INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease leading to recurrent epistaxis, telangiectasias, and/or visceral arteriovenous malformations. Multiple treatment methods, including both pharmacologic and surgical, are described to be effective in managing symptomatic HHT. Few report the duration of symptom improvement for each of these treatment methods. This study aims to analyze the duration of effectiveness of coblation treatment for recurrent epistaxis in those with HHT. METHODS: Retrospective single-center chart review was completed for patients diagnosed with HHT who underwent coblation treatment by the same otolaryngologist from December 2009 to November 2021. Demographic information was collected along with whether local Bevacizumab was used during each treatment. Months between treatment coblation sessions was used as a surrogate for duration of treatment effectiveness. Descriptive statistics were used for analysis alongside quantitative statistical analysis. RESULTS: Over the course of 12 years, 57 patients (24 female, 42.11%) with HHT underwent a total number of 150 coblation treatments. The average age at initial coblation was 59 years (29-88) with an average follow-up time of 5 years (1-12 years). Of the 150 coblations, 30 treatments (20%) included bevacizumab injections into the nasal cavity. The average duration of treatment effectiveness across all 150 treatment sessions was 24.5 months (1-87 months). Of the 26 patients (46%) that underwent multiple coblation treatments, the overall average duration of coblation effectiveness was 16.4 months (1-72 mos). When Bevacizumab was utilized, the average duration of effectiveness was 18.3 months (3-62 mos), while the average duration of effectiveness for treatments without Bevacizumab was 15.7 months (1-87 mos, p > 0.251). Further, there was no correlation between duration of treatment effectiveness and age, sex, and race; yet,there was a significant negative correlation between the use of tobacco and duration of coblation effectiveness (p = 0.0202). CONCLUSIONS: Coblation is an effective treatment option for the management of epistaxis in patients with HHT with duration of benefit lasting approximately 2 years. The use of Bevacizumab did not add to the duration of treatment benefit. Further, the duration of benefit was negatively impacted by smoking history.

Effect of intense pulsed light using acne filter on eyelid margin telangiectasia in moderate-to-severe meibomian gland dysfunction.

Evaluate the improvement in clinical signs and symptoms in patients with moderate-to-severe meibomian gland dysfunction (MGD) treated with intense pulsed light (IPL) using an acne filter. A retrospective chart review of 70 eyes of 35 patients with moderate-to-severe MGD treated with IPL using the acne filter was performed. IPL treatment was administered using the acne filter four times at 2- to 3-week intervals to upper and lower eyelids. We evaluated tear break-up time (TBUT), matrix metalloproteinase (MMP)-9, Sjögren's International Clinical Collaborative Alliance (SICCA) staining score, and Oxford staining grade. We performed Schirmer's test I without topical anesthesia, slit-lamp microscopic examination of lid margin and meibomian gland, and patient's symptom score assessment and evaluated the incidence of adverse effects in the ocular and periocular areas at baseline and 30 days after the final treatment. Significant improvements (P < 0.001) were observed in TBUT, SICCA staining score, Oxford staining grade, quality of meibum, consistency of meibum, lid margin telangiectasia, MGD grade, and patient's symptom scores after acne filter IPL treatment. Furthermore, the positivity (100 to 71.43%, P = 0.002) and level (2.43 ± 0.98 to 1.14 ± 0.78, P < 0.001) of MMP-9 significantly decreased after treatment. However, there was no significant improvement in Schirmer's test I (P = 0.224). No systemic or regional adverse effects were observed in any patient. IPL treatment using the acne filter is an effective and safe therapeutic modality for treating moderate-to-severe MGD, especially for lid margin telangiectasia and MMP-9.

Randomized, controlled, double-blinded clinical trial of effect of bevacizumab injection in management of epistaxis in hereditary hemorrhagic telangiectasia patients undergoing surgical cauterization.

BACKGROUND: Given its role in the disease pathophysiology, inhibition of vascular endothelial growth factor (VEGF)-mediated angiogenesis has received attention as a potential strategy to reduce epistaxis associated with hereditary hemorrhagic telangiectasia (HHT). In this study we evaluated the efficacy of a submucosal injection of bevacizumab, a VEGF inhibitor, in reducing the severity of epistaxis and improving quality of life when given at the time of operative electrocautery. METHODS: This randomized, double-blinded, placebo-controlled trial was conducted at a single institution from 2014 to 2019. Patients scheduled to undergo operative bipolar electrocautery of nasal telangiectasias were randomized to receive a submucosal injection of saline or bevacizumab at time of surgery. Surveys to assess epistaxis severity and quality of life (QOL), including the Epistaxis Severity Score (ESS) and the 12-item Short Form (SF-12), were administered preoperatively and at 1, 2, 4, and 6 months postoperatively. The minimal clinically important difference (MCID) of the ESS instrument is reported to be 0.71. RESULTS: Of 39 patients enrolled, 37 (94.9%) completed the study. The saline group demonstrated a reduced ESS vs baseline at 1 (-1.2; p = 0.01) and 4 (-1.2; p = 0.05) months postprocedure. The bevacizumab group demonstrated a reduced ESS score vs baseline at 1 (-2.3; p < 0.001), 2 (-2.3; p < 0.001), 4 (-2.0; p = 0.003), and 6 (-1.3; p = 0.05) months postprocedure. The additive benefit of bevacizumab over saline exceeded the MCID at 1, 2, and 4 months, but the difference was not statistically significant. CONCLUSION: The addition of a single treatment of submucosal bevacizumab may be associated with additional clinically meaningful benefit for up to 4 months when compared with electrocautery alone.

[Avoiding mistakes in anti-VEGF intravitreal injection therapy]. / Indikationen zur intravitrealen Injektionstherapie mit Anti-VEGF für Makulaerkrankungen ­ Fehler vermeiden.

Intravitreal injection (IVI) of drugs for treatment of various macular diseases is now one of the most frequently performed surgical procedures worldwide. As mostly chronic diseases are treated, the indications for treatment often mean a continuous treatment over years with a corresponding effort regarding spatial, personnel and financial resources. The diagnosis and indications for treatment are nowadays mainly made by spectral domain optical coherence tomography (SD-OCT). The ability to clinically assess and evaluate a fluorescence angiography is less practiced, although these are still a component of the indications for intravitreal injections. Therefore, it can happen that despite all diligence patients may receive anti-vascular endothelial growth factor (VEGF) treatment, sometimes permanently, based on a misinterpretation of the macular diagnosis or disease activity and these indications, once made, are rarely questioned or retracted. Therefore, the aim of this manuscript is to point out possible and typical misinterpretations in the indications or continuation of IVI treatment with anti-VEGF by means of case studies and to sensitize for differential diagnoses.

Multicolor scanning laser imaging in macular telangiectasia / 中华实验眼科杂志

Objective:To observe the characteristics of macular telangiectasia (MacTel) in multi-color and multi-mode fundus images.Methods:An abservational case series study was conducted.Sixteen eyes of 12 patients diagnosed with MacTel by fluorescein fundus angiography (FFA) from January to November 2019 in Shandong Eye Hospital were analyzed.There were 8 cases (8 eyes) with MacTel type Ⅰ, among which 4 cases were male and 4 cases were female, with an average age of (62.3±12.5) years.The other 4 cases (8 eyes) had MacTel type Ⅱ, all of which were female, with an average age of (58.7±10.5) years.Best corrected visual acuity, slit lamp microscopy, color fundus photography, multicolor scanning laser imaging, FFA, optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) were carried out in all the patients.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Shandong Eye Institute (No.2019S003).Results:In color fundus images of MacTel type Ⅰ eyes, annular macular exudation with macular edema occurred in 6 eyes, macular edema without hard exudates in 1 eye, and hard macular exudates without macular edema in 1 eye.However, the transparency of retina in temporal fovea in MacTel type Ⅱ eyes decreased, showing a gray color.In multi-color fundus images of MacTel type Ⅰ eyes, punctate granular yellow macular exudation and yellow-green macular edema were observed, which were clearer than those in color fundus images.Punctate exudation was seen in both the blue and green reflectance images, which was clearest in green reflectance image, followed by blue reflectance image and then the infrared reflectance image.In OCT images of MacTel type Ⅰ eyes, cystoid edema of inner retina or uneven reflection signal of outer plexiform retina were observed.Loss of inner and outer retinal structures and cavities were observable in MacTel type Ⅱ eyes, and outer retinal atrophy appeared in 2 eyes.In OCTA images, the destruction of superficial and deep capillary plexus in macular area were observed in both MacTel typeⅠand type Ⅱ eyes, and the destruction of deep capillary plexus was more obvious.In addition, more obviously increased vascular space, decreased vessel density, and increased foveal avascular zone were found in MacTel type Ⅱ eyes.In early stage of FFA, delayed capillary filling near fovea was seen in MacTel typeⅠeyes, and dilated temporal vessels in fovea, some of which showed tumor-like dilation, and the limited tumor-like dilation was enhanced in the later stage.Different degrees of dilated parafoveal blood vessels in the early stage, and the capillary in the temporal side of the macula showing diffuse strong fluorescence in the late stage of FFA was observed in MacTel type Ⅱ eyes.Conclusions:Multi-color scanning laser imaging can be used to observe the morphological characteristics of MacTel, and the imaging features of different types of MacTel are significantly different.

Macular vessel defects for Coats' disease associated with subfoveal fibrotic nodule / 中华眼底病杂志

Objective:To investigate macular microvascular abnormalities in eyes with subfoveal fibrotic nodules secondary to Coats' disease.Methods:A cross-sectional study. From January 1, 2018 to July 30, 2021, 45 eyes of 45 patients diagnosed with Coats' disease with or without subfoveal fibrotic nodules in Eye and ENT Hospital, Shanghai Medical College of Fudan University were included in this study. There were 40 eyes in 40 males and 5 eyes in 5 females. All were under 21 years old. According to the presence or absence of subfoveal fiber nodules, the patients were divided into fibrotic group (26 cases, 26 eyes) and non-fibrotic group (19 cases, 19 eyes). Optical coherence tomography angiography was used to scan 3 mm×3 mm or 6 mm×6 mm macular area of both eyes. The software of the device automatically processed the images. The presence of FAZ edge anastomotic vascular arch ring breakage and abnormal microvascular branch (AMB) in the foveal avascular zone (FAZ) were observed.Results:In 26 eyes of fibrosis group, AMB originating from the parafoveal retinal capillary network was observed, which grew into and destroyed the integrity of the vascular arch ring at the edge of FAZ. AMB was crisscrossing and winding, and its curvature expands. B-scan images showed the blood flow signal in the subfoveal fiber nodule, and the blood flow signal traversed between the inner retina and the fiber nodule in 23 eyes (88.46%, 23/26). In the non-fibrosis group, all the vascular abnormalities were characterized by capillary dilation and defect, and no breakage of FAZ anastomotic vascular arch ring or AMB was observed.Conclusions:In Coats' disease with subfoveal fiber nodules, staggered and dilated AMBs emerge from the parafoveal vascular network, grow into and destroy the integrity of the vascular arch ring at the edge of FAZ, and grow down longitudinally into the fiber nodules.

A prospective case-control study of intravitreal injection of anti-vascular endothelial factor drugs in the treatment of Coats disease / 中华眼底病杂志

Objective:To investigate the efficacy and safety of traditional laser photocoagulation, laser combined with intravitreal injection of anti-vascular endothelial factor (anti-VEGF) drugs and intravitreal injection of anti-VEGF drugs alone in Coats disease.Methods:The patients diagnosed as Coats disease stage 2B-3A2 in Department of Ophthalmology, Eye and ENT Hospital of Shanghai Medical College of Fudan University from December 2016 to November 2019 were included in this study. Patients were divided into three groups, including laser group, combined group and drug group, according to the different treatment. In the laser group, the initial treatment was traditional laser photocoagulation alone. In the drug group, the anti-VEGF drug was injected into vitreous once a month for three months. The initial treatment of the eyes in the combined group was laser combined with intravitreal injection of anti-VEGF drugs, or laser treatment within 1 week after anti-VEGF drug treatment. The follow-up time was more than 6 months, and best-corrected visual acuity (BCVA), ultra-wide-angle fundus photography, and fluorescein fundus angiography were performed during follow-up. The treatment efficiency, subretinal fluid (SRF), macular edema, BCVA and complications were compared among the three groups.Results:Among 60 patients (60 eyes), there were 55 males (55 eyes) and 5 females (5 eyes), with the mean age of 17.1±2.0 years. Among 60 eyes, there were 26 eyes in 2B stage, 23 eyes in 3A1 stage, and 11 eyes in 3A2 stage. Twenty patients (20 eyes) was in the laser group, combined group and drug group, respectively. After the initial treatment of all eyes in the drug group, the abnormal blood vessels did not regress significantly; the absorption and increase of SRF were 4 (20.0%, 4/20) and 5 (25.0%, 5/20) eyes, respectively. Supplementary laser therapy was given to 16 eyes, and vitrectomy (PPV) was given to 4 eyes. Among the 16 eyes treated by laser, 10 eyes were effective (50.0%, 10/20); vitreous hemorrhage, fibrous membrane hyperplasia, and complicated cataract occurred in 1, 1, and 2 eyes during the treatment, respectively, and PPV was given again in all eyes. Recurrent and persistent macular edema occurred in 4 and 1 eyes, respectively. Among the eyes in the combined group, treatment were effective in 11 eyes (55.0%, 11/20); 5, 2, and 2 eyes had SRF, fibrous membrane hyperplasia, and complicated cataract during the treatment, and PPV was given again; the edema was repeated and persisted in 1 eye, respectively. Among the affected eyes in the laser group, 15 eyes (75.0%, 15/20) were treated effectively; 2, 2, and 1 eyes developed a large number of vitreous hemorrhage, fibrous membrane hyperplasia, and complicated cataract during the treatment, and PPV was given again.Conclusions:Anti-VEGF drugs alone are ineffective in the treatment of Coats disease, and ablation of other abnormal blood vessels is needed. In the treatment of Coats disease, anti-VEGF drugs can not only promote the absorption of SRF, but also may lead to its increase, and the application should be cautious.

A novel endoglin mutation in a family with hereditary hemorrhagic telangiectasia: a case report.

Hereditary hemorrhagic telangiectasis (HHT) is an autosomal dominant vascular disease, and approximately 80% of all HHT cases are caused by gene mutation. In this report, we analyzed the case of an 11-year-old girl who had intracranial bleeding when she was 7 years old. Her brain computed tomography (CT) scans and craniocerebral angiography results revealed that she had multiple cerebral arteriovenous malformations (CAVMs). Cardiac computed tomography angiography (CTA) revealed a pulmonary arteriovenous malformation (PAVM) located in a segment of the left lung. This patient's primary diagnosis was of CAVMs and PAVMs. Both cerebral vascular embolization therapy and interventional treatment for PAVMs were performed to treat these respective conditions. The operations were successful and the patient's prognosis was good. To confirm the patient's diagnosis and the cause of her conditions, peripheral blood was collected from her and her family for whole-exome sequencing (WES). Sanger sequencing was used to verify these results and STRUM software was used to predict the presence of mutant proteins. We found a new mutation of the endoglin (ENG) gene present in this family; this mutation is known as c.1466del (p.Gln489Argfs*2). The patient's mother was a carrier of this heterozygous mutation. STRUM software confirmed that the configuration of the ENG protein p.Gln489Argfs2 site changed with this mutation. We believe this c.1466del (p.Gln489Argfs*2) mutation affects ENG protein function, and the resultant ENG protein dysfunction leads to HHT. When a child has multiple vascular malformation, HHT should be considered as a primary diagnosis.

Coats disease with retinal neovascularization under subfoveal nodule: optical coherence tomography-angiography findings before and after ranibizumab treatment / Doença de Coats com neovascularização da retina sob nódulo subfoveal: achados da angiografia com tomografia de coerência óptica (OCT) antes e depois do ranibizumabe

ABSTRACT We conducted retinal neovascularization under subfoveal fibrotic nodule for Coats disease by using optic coherence tomography-angiography before and after ranibizumab treatment. Our patient was an 8-year-old boy who was referred with suspicious left retinal mass. His visual acuity was 20/400 in the left eye and 20/20 in the right eye at the time of admission. Posterior segment evaluation of the left eye revealed telengiectatic vessels at the inferotemporal region of the peripheral retina with hard exudates around the optic disc and macula typical for Coats disease. His optic coherence tomography revealed a subfoveal fibrotic nodule after ranibizumab injections and laser photocoagulation treatment. The optic coherence tomography-angiography results revealed neovascularization under the subfoveal nodule at the superficial vascular complex layer. After 3 intravitreal ranibizumab injections, his neovascularization regressed on optic coherence tomography-angiography and his visual acuity improved. To the best of our knowledge, this is the first report demonstrating neovascularization under the subfoveal fibrotic nodule in Coats disease on the basis of comparative with the help of optic coherence tomography-angiography before and after the treatment.

RESUMO Demonstramos uma neovascularização da retina sob o nódulo fibrótico subfoveal na doença de Coats com a ajuda da Angiotomografia de Coerência Óptica (OCT-A) antes e após o tratamento com ranibizumabe. Paciente do sexo masculino de 8 anos foi encaminhado com suspeita de massa retiniana no olho esquerdo. A acuidade visual foi de 20/400 no olho esquerdo e de 20/20 no olho direito. A avaliação do segmento posterior do olho esquerdo revelou vasos telengiectáticos na região inferotemporal da retina periférica e exsudados duros em torno do disco óptico e mácula típica da doença de Coats. A angiotomografia de coerência óptica apresentou nódulo fibrótico subfoveal após injeções de ranibizumabe e tratamento com fotocoagulação a laser. A angiotomografia de coerência óptica mostrou neovascularização sob o nódulo subfoveal na camada superficial do complexo vascular. Após três injeções de ranibizumabe intravítreo, a neovascularização regrediu na angiografia por tomografia de coerência óptica e a acuidade visual melhorou. onde sabemos, este é o primeiro relato a mostrar neovascularização sob nódulo fibrótico subfoveal na Doença de Coats com a ajuda da angiografia por tomografia de coerência óptica antes e após o tratamento.

Myocardial Infarction in a Patient With Hereditary Hemorrhagic Telangiectasia: A Case Report and Review of Literature.

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that results in vascular defects and arteriovenous malformations. We present a 25-year-old male with a past medical history of HHT who came in with chest pain and was found to have an ST-elevation myocardial infarction (STEMI) and subsequently received a bare-metal stent to the mid-left anterior descending artery (LAD). Although there is a predisposition for bleeding, HHT can lead to thrombotic manifestations such as myocardial infarction (MI), as seen in our patient. Healthcare providers should be aware of this association to be able to efficiently diagnose acute coronary syndrome in HHT patients. Further studies are required to assess the efficacy of bare-metal stents in HHT patients who present with an MI.

Pulmonary arteriovenous fistula ruptured in an adolescent girl 1 week after her mother's rupture: a report of a case.

A 14-year-old girl was diagnosed with hemothorax associated with pulmonary arteriovenous fistula rupture, and emergency surgery was performed. One week before her surgery, her mother at 32 weeks of gestation underwent emergency surgery for hemothorax caused by pulmonary arteriovenous fistula rupture. Both were diagnosed with hereditary hemorrhagic telangiectasia. The indications for treatment of pulmonary arteriovenous fistulas in young patients remain controversial because the risk of complications concerning pulmonary arteriovenous fistula is lower in young patients than in adult patients. We recommend that aggressive treatment should be performed for pulmonary arteriovenous fistulas in patients with hereditary hemorrhagic telangiectasis with a family history of pulmonary arteriovenous fistula rupture even if the patient is asymptomatic and young, because such patients may have a high risk of pulmonary arteriovenous fistula rupture.