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Dyspnea is a common symptom with varied causes. Pulmonary vascular involvement in Hereditary Hemorrhagic Telangiectasia (HHT) includes pulmonary arteriovenous malformations (PAVMs) and pulmonary hypertension (PH), both which can result in dyspnea. Additionally, dyspnea is a common symptom in individuals with obstructive airway disorders (OADs) such as asthma, bronchiectasis and chronic obstructive pulmonary disease (COPD). These respiratory conditions are not mutually exclusive, individuals with HHT can have pulmonary vascular involvement and a concomitant OAD. However, the likelihood of this co-occurrence is not currently known. We aimed to determine the prevalence of co-occurrence to improve patient diagnosis and management. We conducted a cross-sectional review of individuals seen in the Edmonton HHT Center as of July 2023 with a definite diagnosis of HHT to assess the proportion of patients with a concomitant OAD (asthma, bronchiectasis, or COPD). 132 patient charts were included. 55.3% had at least one identified PAVM and 28.0% had a documented OAD (asthma = 15.9%, COPD = 10.6%, Bronchiectasis = 2.3%). More importantly, 18.9% of individuals had both an OAD and a PAVM. Dyspnea as a symptom of OADs requires specialized assessment and management. PAVMs in HHT also require specialized care, but involve different treatment approaches. It is important to identify individuals who have both HHT and an OAD to improve management which takes both OADs and pulmonary vascular disorders into account when assessing HHT patients with dyspnea. Early recognition creates better precision health and more effective care of individuals with HHT and dyspnea.

Hereditary hemorrhagic telangiectasia (HHT), also called Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.

Background and aimsHereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by recurrent epistaxis, telangiectatic lesions in the skin and mucosal membranes, and arteriovenous malformations (AVMs) in various organs. In 3%–5% of patients, HHT is caused by pathogenic germline variants (PVs) in SMAD4, and these patients often have additional symptoms of juvenile polyposis syndrome and thoracic aneurysms. The phenotypic spectrum of SMAD4-associated HHT is less known, including the penetrance and severity of HHT. We aimed to investigate the phenotypic spectrum of HHT manifestations in Danish patients with PVs in SMAD4 and compare the findings with current literature.MethodsThe study is a retrospective nationwide study with all known Danish patients with PVs in SMAD4. In total, 35 patients were included. The patients were identified by collecting data from genetic laboratories, various databases and clinical genetic departments across the country. Clinical information was mainly collected from the Danish HHT-Centre at Odense University Hospital.ResultsTwenty-nine patients with PVs in SMAD4 (83%) were seen at the HHT-Centre. Seventy-six per cent of these fulfilled the Curaçao criteria, 86% experienced recurrent epistaxis and 83% presented with telangiectatic lesions at different anatomical localisations. Almost 60% had AVMs, mainly pulmonary and hepatic, while none was found to have cerebral AVMs. Fifteen per cent had thoracic aortic abnormalities.ConclusionWe present a nationwide study of one of the largest populations of patients with PVs in SMAD4 that has systematically been examined for HHT manifestations. The patients presented the full spectrum of HHT-related manifestations and the majority fulfilled the Curaçao criteria.

Hereditary hemorrhagic telangiectasia (HHT) leads to fragile blood vessels, causing frequent bleeding and anemia. Treatment mainly addresses iron levels and substitution. Although cobalamin (vitamin B12) is routinely tested in chronic anemia, its role in HHT has not been studied until now. This study examined its prevalence and related symptoms in HHT patients. Data from HHT patients treated between July 2019 and November 2022 were analyzed. Patients with cobalamin levels under 400 pg/ml underwent further testing and questioning. Among 155 patients, 42% were anemic, and 45% had cobalamin levels below 400 pg/ml. However, only 7 patients had a confirmed deficiency. Still, many reported symptoms commonly but not specifically linked to cobalamin deficiency, even with low-normal levels. Gastrointestinal lesions were significantly associated with these low-normal values ( p  = 0.027). Furthermore, 59% of patients had iron deficiency, and 67% were not receiving iron therapy at the time of their visit. This study is the first to show that true cobalamin deficiency is not more common in HHT than in the general population, though low-normal levels are frequent. In case of unexplained symptoms, evaluating cobalamin levels should be taken into consideration.

Background and purpose Hereditary haemorrhagic telangiectasia (HHT) is a genetic disease with fragile blood vessels and vascular malformations, potentially causing neurological manifestations, including stroke and cerebral abscesses. The study aimed to investigate neurological manifestations in the Danish HHT database, focusing on pulmonary arteriovenous malformations (PAVMs) as a risk factor for cerebral events. Methods Retrospective analysis of the Danish HHT database was conducted, cross‐referencing neurological outcomes with the Danish Apoplexy Register for accuracy. Patients were stratified by HHT type. Primary outcomes included ischaemic stroke, transient ischaemic attack and cerebral haemorrhage. Secondary outcomes comprised age, age at HHT diagnosis, age at cerebral ischaemic event, and PAVM and cerebral arteriovenous malformation status. Results Six hundred and sixty‐four HHT patients were included. PAVM was diagnosed in 54% of patients, with higher prevalence in HHT type 1 (70%) compared to HHT type 2 (34%) and juvenile polyposis HHT (66%). Ischaemic stroke or transient ischaemic attack occurred in 12.5%, with a higher risk associated with macroscopic PAVM. Logistic regression showed a nearly 10 times increased risk of ischaemic stroke with macroscopic PAVM. Cerebral abscesses occurred in 3.2% of patients, all with macroscopic PAVM. Incomplete PAVM closure increased cerebral abscess risk. Conclusion This study provides valuable insights into the prevalence of neurological manifestations and vascular events in HHT patients. The presence of PAVM was associated with an increased risk of ischaemic stroke, highlighting the importance of early screening and intervention. The findings emphasize the need for comprehensive management strategies targeting both vascular and neurological complications in HHT patients, especially regarding secondary stroke prevention.

Objective The brain arteriovenous malformation (BAVM) nidus compactness score (CS), determined on angiography, predicts BAVM recurrence after surgical resection among children with sporadic BAVMs. We measured the angiographic CS for BAVMs among children with hereditary hemorrhagic telangiectasia (HHT) to determine CS characteristics in this population. Methods A pediatric interventional neuroradiologist reviewed angiograms to determine the CS of BAVMs in children with HHT recruited to the BVMC. CS is based on overall nidus and perinidal anomalous vessel compactness. CS categories included 1 = diffuse nidus, 2 = intermediate nidus, and 3 = compact nidus. Results Forty-eight of 78 children (61.5%) with HHT and brain vascular malformations had a conventional angiogram; 47 (97.9%) angiograms were available. Fifty-four BAVMs were identified in 40 of these 47 children (85.1%). Of 54 BAVMs in children with HHT, CS was 1 in 7 (13%), 2 in 29 (53.7%), and 3 in 18 BAVMs (33.3%) compared with CS of 1 in six (26.1%), 2 in 15 (65.2%), and 3 in 2 BAVMs (8.7%) among 23 previously reported children with sporadic BAVMs, p  = 0.045 (Fisher’s exact). Seven children with HHT had intracranial hemorrhage: 4 had CS = 3, 1 had CS = 2, and 2 had CS = 1. Conclusions A range of CSs exists across HHT BAVMs, suggesting it may be an angiographic measure of interest for future studies of BAVM recurrence and hemorrhage risk. Children with HHT may have more compact niduses compared to children with sporadic BAVMs. Additional research should determine whether CS affects hemorrhage risk or post-surgical recurrence risk in HHT-associated BAVMs, which could be used to direct BAVM treatment.

Background Recurrent epistaxis, which frequently results in iron deficiency anaemia and impaired quality of life, is the most frequent complication of hereditary haemorrhagic telangiectasia (HHT). Specific data to guide rare disease management during a pandemic such as COVID-19 are lacking. Methods To better define the impact of the COVID-19 pandemic on HHT, we conducted a retrospective and prospective observational descriptive review of HHT patients in central South Africa. Epistaxis severity scores (ESSs) and haemoglobin (Hb) levels before and after the start of the pandemic were compared. Variables that may have influenced epistaxis severity and anaemia were investigated, viz. (i) mask use, (ii) nasal versus oral swabs to test for SARS-CoV-2, (iii) COVID-19 disease and (iv) its management, (v) COVID-19 vaccines, and (vi) the social impact of the pandemic. Results Twenty-four patients with confirmed HHT were included in the study. Subset analyses revealed a clinically significant change in ESSs (≥ 0.71 minimal important difference) and Hb levels (> 2.7% biologic variation) in 6/11 (54.6%) and 12/15 (80%) patients. While the median ESS improved in 2/11 (18.2%) patients, it worsened in 4/11 (36.4%) patients during the pandemic. However, the changes in the median ESS (2.25 pre-pandemic versus 2.5 during the pandemic; p = 0.38) and Hb level (9.5 g/dL pre-pandemic versus 10 g/dL during the pandemic; p = 0.38) for the study population were not statistically significant. Clinical and social variables that may influence epistaxis severity and anaemia were identified. Nasal swab testing for SARS-CoV-2 induced epistaxis in 9/12 (75%) cases and was noted as an important factor. Conclusion The COVID-19 pandemic has had a clinically significant impact on epistaxis severity and anaemia in some individuals with HHT in central South Africa. Specific strategies are needed to optimise the management of HHT during the COVID-19 and future respiratory pandemics.

Background There has been concern that individuals living with Hereditary Hemorrhagic Telangiectasia (HHT) could be at higher risk for poor outcomes if infected with SARS-CoV2, the virus that causes COVID-19 disease. As literature is lacking on outcomes on COVID-19 infection and vaccination in HHT, the objectives of this study were to determine and assess outcomes in HHT, as well as quantify vaccination rates and vaccination side effects in a large cohort of individuals with HHT. Method Individuals previously recruited to OUR HHT Registry at St. Michael’s Hospital, Toronto were contacted for participation in this study. Data were collected during annual assessment through a series of questionnaires asking specifically about HHT complications, treatments, and symptom management, along with COVID infection and vaccination data. Results We attempted to contact all 262 subjects recruited to the registry. Of these, 215 (82.1%) responded at least once regarding COVID-19 related inquiries between April 2020 and August 2022, and these individuals formed our study sample. Forty-nine COVID-19 infections were reported in 47/215 (21.9%) individuals. Among 47 patients with recorded COVID-19 infection, 2/47 (4.3%) required urgent care and 7/47 (14.9%) were hospitalized following infection. Of the 7 individuals who were hospitalized, 3 (42.9%) required new supplemental oxygen. Zero deaths were reported due to COVID-19 infection. COVID vaccination history was available in 147/215 (68.4%). Of these, 135/147 (91.8%) of individuals reported vaccination and side effects were mild. Discussion While our sample population is much like the general HHT population with regards to gender, HHT symptoms, and genetics, study limitations including survivor bias, lack of vaccine effectiveness assessment, and participant reported data should be acknowledged. Conclusion Our results suggest that HHT patients are not at higher risk of severe infection with COVID-19 compared to the general population. Vaccination rates are high with only mild side effects being observed.

Background and purpose Pulmonary arteriovenous malformations (PAVMs) may cause recurrent brain abscess. The primary aim was to determine the prevalence of PAVM amongst survivors of brain abscess. The proportion with cardiac right‐to‐left shunts was also assessed post hoc. Methods This was a cross‐sectional population‐based study of adult (≥18 years) survivors of cryptogenic bacterial brain abscess in Denmark from 2007 through 2016. Patients were invited for bubble‐echocardiography to detect vascular right‐to‐left shunting and, if abnormal, subsequent computed tomography thorax for diagnosis of PAVM. Data are presented as n/N (%) or median with interquartile range (IQR). Results Study participation was accepted by 47/157 (30%) eligible patients amongst whom two did not appear for scheduled bubble‐echocardiography. The median age of participants was 54 years (IQR 45–62) and 19/57 (33%) were females compared with 59 years (IQR 48–68, p = 0.05) and 41/85 females (48%, p = 0.22) in non‐participants. Bubble‐echocardiography was suggestive of shunt in 10/45 (22%) participants and PAVM was subsequently confirmed by computed tomography in one patient with grade 1 shunting. The corresponding prevalence of PAVM was 2% (95% confidence interval 0.06–11.8) amongst all examined participants. Another 9/45 (20%) were diagnosed with patent in persistent foramen ovale (n = 8) or atrial septum defect (n = 1), which is comparable with the overall prevalence of 25% amongst adults in the Danish background population. Conclusions Undiagnosed PAVM amongst adult survivors of cryptogenic bacterial brain abscess is rare but may be considered in select patients. The prevalence of cardiac right‐to‐left shunts amongst brain abscess patients corresponds to the prevalence in the general population.

Background Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 to 1:8000, and which is characterised by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and central nervous system. The aim here was to carry out a review of the literature on HHT complications during pregnancy in order to guide management decisions. Main body A literature review was carried out to analyse all publications on complications that occurred during pregnancy in women with HHT. The PubMed/Medline and Scopus databases were searched. The complications observed in HHT women during pregnancy were then described. The authors identified 5 case series and 31 case reports that describe the evolution of 1577 pregnancies in 630 women with HHT. The overall maternal death rate described in the case series was estimated at 1.0% of pregnancies in the case series and 2 maternal deaths occurred in 31 pregnancy case reports. Severe maternal complications occurred in 2.7 to 6.8% of pregnancies in the case series. Severe complications occurred mostly in the second and third trimester in non-diagnosed and non-screened HHT patients. Severe complications were related to visceral involvement. The most frequent complications were related to pulmonary arteriovenous malformations (PAVMs) (haemothorax ( n  = 10), haemoptysis ( n  = 4), and severe hypoxaemia ( n  = 3)). Neurological complications were related to PAVMs in one case (right to left shunt) and to cerebral arteriovenous malformations (CAVM) and intracranial haemorrhage in 2 cases. Complications were related to hepatic arteriovenous malformations (HAVMs) in 8 cases (acutely decompensated heart failure due to hepatic involvement ( n  = 1), dyspnoea related to heart failure ( n  = 5), and hepatobiliary necrosis ( n  = 2)). Conclusion Based on the literature review, most pregnancies in HHT women occur normally. However, these pregnancies should be considered high-risk, given the potential life-threatening events related to AVM rupture. Furthermore, there is currently no international consensus regarding the medical follow-up of pregnancy in women with HHT and the aim here was to carry out a review of the literature in order to guide screening and management decisions for this rare disease.