scholarly journals Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management

Hematology ◽  
2021 ◽  
Vol 2021 (1) ◽  
pp. 469-477
Author(s):  
Adrienne M. Hammill ◽  
Katie Wusik ◽  
Raj S. Kasthuri
Keyword(s):  
Family History ◽  
Blood Vessels ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Age Groups ◽  
Intravenous Iron ◽  
Surgical Approaches ◽  
Antiangiogenic Agents ◽  
Clinical Criteria ◽  
Recurrent Epistaxis ◽  
New Guidelines

Abstract Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development of malformed blood vessels. Abnormal blood vessels may be small and cutaneous or mucosal (telangiectasia), with frequent complications of bleeding, or large and visceral (arteriovenous malformations [AVMs]), with additional risks that can lead to significant morbidity and even mortality. HHT can present in many different ways and can be difficult to recognize, particularly in younger patients in the absence of a known family history of disease or epistaxis, its most common manifestation. HHT is commonly diagnosed using the established Curaçao clinical criteria, which include (1) family history, (2) recurrent epistaxis, (3) telangiectasia, and (4) visceral AVMs. Fulfillment of 3 or more criteria provides a definite diagnosis of HHT, whereas 2 criteria constitute a possible diagnosis of HHT. However, these criteria are insufficient in children to rule out disease due to the age-dependent development of some of these criteria. Genetic testing, when positive, can provide definitive diagnosis of HHT in all age groups. Clinical course is often complicated by significant epistaxis and/or gastrointestinal bleeding, leading to anemia in half of adult patients with HHT. The management paradigm has recently shifted from surgical approaches to medical treatments aimed at control of chronic bleeding, such as antifibrinolytic and antiangiogenic agents, combined with aggressive iron replacement with intravenous iron. Guidelines for management of HHT, including screening and treatment, were determined by expert consensus and originally published in 2009 with updates and new guidelines in 2020.

scholarly journals High-Output Heart Failure Contributing to Recurrent Epistaxis Kiesselbach Area Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia

2017 ◽  
Vol 5 (1) ◽  
pp. 232470961769283
Author(s):  
Venugopal Brijmohan Bhattad ◽  
Jennifer N. Bowman ◽  
Hemang B. Panchal ◽  
Timir K. Paul
Keyword(s):  
Heart Failure ◽  
Blood Vessels ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Hemoglobin Level ◽  
Blood Disorder ◽  
Recurrent Epistaxis ◽  
High Output Heart Failure ◽  
Abnormal Bleeding ◽  
High Output

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that leads to abnormal bleeding due to absent capillaries and multiple abnormal blood vessels known as arteriovenous malformations. A feature of HHT is high-output heart failure due to multiple arteriovenous malformations. High-output heart failure can lead to recurrent epistaxis Kiesselbach area syndrome (REKAS), further exacerbating heart failure through increased blood loss and resultant anemia. We report a patient with HHT who presented with high-output heart failure contributing to REKAS. In patients with REKAS, we propose if anemia is present, REKAS can be avoided by correcting the anemia by increasing the hemoglobin level to greater than 9 to 10 g/dL. This decreases hyperdynamic circulation and reduces pressure in the blood vessels of the nose.

scholarly journals Hereditary Hemorrhagic Telangiectasia: A Genetic Disorder with Oral Manifestations

2014 ◽  
Vol 3 (1) ◽  
pp. 49-52
Author(s):  
Apollonia Desiate ◽  
Stefania Cantore ◽  
Andrea Ballini
Keyword(s):  
Family History ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Oral Manifestations ◽  
Systemic Diseases ◽  
Recurrent Epistaxis ◽  
History Of ◽  
Broad Understanding

ABSTRACT The case of a 74-year-old man who was diagnosed as having hereditary hemorrhagic telangiectasia (HHT), with telangiectasies localized in oral district is presented. This condition is an autosomal dominant mucocutaneous and visceral fibrovascular dysplasia in which telangiectasia, arteriovenous malformations and aneurysms may be widely distributed throughout the cardiovascular system. It is usually recognized as a ‘triad’ of telangiectasia, recurrent epistaxis and a family history of the disorder. The nature of the practice of dentistry necessitates a broad understanding of the systemic diseases reflected in the oral cavity. Hereditary hemorrhagic telangiectasia is one such disease. How to cite this article Ballini A, Cantore S, Desiate A. Hereditary Hemorrhagic Telangiectasia: A Genetic Disorder with Oral Manifestations. Int J Experiment Dent Sci 2014; 3(1): 49-52.

scholarly journals Age and Spinal Disease Correlate to Albumin and Vitamin D Status

2021 ◽  
pp. 219256822098256
Author(s):  
Anderson Gomes Marin ◽  
Raphael de Rezende Pratali ◽  
Samuel Machado Marin ◽  
Carlos Fernando Pereira da Silva Herrero
Keyword(s):  
Vitamin D ◽  
Nutritional Status ◽  
Age Groups ◽  
Hypovitaminosis D ◽  
Cross Sectional Study ◽  
Surgical Approaches ◽  
Albumin Concentration ◽  
Vitamin D Status ◽  
Cross Sectional ◽  
Epidemiological Profile

Study Design: Cross-sectional study. Objectives: Thus, this study aimed to assess the epidemiological profile of a patient sample that underwent spinal surgery regarding their nutritional and vitamin D status. Methods: Serum albumin and vitamin D (25-hydroxyvitamin D) levels were measured in patients with different spinal surgical approaches and various pathologies at a single institution. 112 patients were retrospectively identified for inclusion and stratified by age into 4 age groups and by pathology. The nutritional status of the patients was classified in vitamin D inadequacy (< 30ng/mL), vitamin D deficiency (<20ng/mL), and hypoalbuminemia (<3.5g/dL). Data was analyzed comparing vitamin D, and albumin means considering gender, age group, and pathologies. Results: Twenty-eight (25.2%) patients had hypoalbuminemia. There was no difference between gender (p = 0.988); there was a significant decrease in albumin concentration increasing the age (p < 0.001). The prevalence of hypoalbuminemia was significantly higher in patients with trauma, tumor and infection than in those patients with degenerative and deformity diseases (p = 0.003). The prevalence of vitamin D inadequacy was 33.7%, and that of deficiency was 62.2%, while severe deficiency (< 10 ng/mL) in 16.3%. The vitamin D concentration was significantly different among the pathologies (P = 0.047), the lower concentration occurring in patients with tumor. Conclusion: Older patients, as well as patients with tumor and infectious pathologies, seem to have a higher prevalence of hypoalbuminemia, inferring malnutrition. There was a low epidemic level of vitamin D concentration, almost all patients presenting some degree of hypovitaminosis D, independent of age, gender and nutritional status.

Cholesterol Among Children of Men With Myocardial Infarction

PEDIATRICS ◽  
1976 ◽  
Vol 58 (2) ◽  
pp. 211-217
Author(s):  
Charles H. Hennekens ◽  
Mary Jane Jesse ◽  
Barbara E. Klein ◽  
Janet E. Gourley ◽  
Sidney Blumenthal
Keyword(s):  
Myocardial Infarction ◽  
Family History ◽  
Cholesterol Level ◽  
Coronary Disease ◽  
Plasma Cholesterol ◽  
Age Groups ◽  
Healthy Men ◽  
Cholesterol Levels ◽  
Premature Myocardial Infarction ◽  
The Mean

Plasma cholesterol levels were obtained on 90 children of 39 men with premature myocardial infarction and 86 children of 39 healthy men. The mean cholesterol among children of affected men (195.1 mg/100 ml) was higher than among children of healthy men (176.6 mg/100 ml) (P = .009). Higher mean levels were demonstrable at each of nine age groups from 1 to 21 years (P = .004). Levels greater than 230 mg/100 ml were found in 16.7% of children of affected fathers and 4.7% of children of healthy fathers, a ratio of 3.6 to 1 (P = .01). These findings are compatible with the hypothesis that elevated childhood cholesterol level offers a mechanism whereby family history predicts coronary disease. A dip in cholesterol during adolescence, a finding that varies with population studied, was demonstrable among children of both affected and healthy men.

Altered Expressions of CXCR4 and CD26 On T-Helper Lymphocytes in Hereditary Hemorrhagic Telangiectasia

2021 ◽  
Author(s):  
Alexandre GUILHEM ◽  
Pierre Portalès ◽  
Sophie Dupuis-Girod ◽  
Sophie Rivière ◽  
Thierry Vincent
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Severe Infection ◽  
Intravenous Iron ◽  
Surface Expression ◽  
T Helper ◽  
Membrane Expression ◽  
Susceptibility To Infection ◽  
T Helper Lymphocytes ◽  
Infectious Risk ◽  
Healthy Control

Abstract Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease characterized by a deregulated neo-angiogenesis. Besides a mainly vascular phenotype (telangiectasia, arteriovenous malformations), patients exhibit a specific infectious risk and a deficit of T and natural killer (NK) lymphocytes. As the CXCR4/CXCL12 chemotactic axis is dysregulated in HHT endothelial cells, we hypothesized that a similar phenomenon could occur on lymphocytes.Results: Eighteen HHT patients with history of severe infection (HSI) were matched in age and sex with 18 HHT without HSI and 18 healthy control subjects (HC). We assessed the cell count and the surface expression of CXCR4 and CD26 (CXCL12 inactivating peptidase) of circulating helper and cytotoxic T lymphocytes (including naive, memory and activated subsets) and NK cells.The overall HHT group of 36 patients exhibited a reduction of circulating T-helper lymphocytes compared to HC (median: 517 vs 1026 cells/mm3, p<0.0001), correlated with age (r=-0.46, p=0.005), requirement of intravenous iron or blood transfusions (median: 291 vs 627 cells/mm3, p=0.03) and CXCR4 surface expression (r=0.353, p=0.0345). CXCR4 and CD26 membrane expression were both decreased on HHT T-helper lymphocytes (median MFI ratio: 4.49 vs 5.74 for CXCR4 and 3.21 vs 4.33 for CD26, p=0.03 and 0.0018 respectively) with an unchanged CXCR4/CD26 ratio. The HHT group with HSI had a higher CXCR4/CD26 ratio on the naive T-helper lymphocytes (median: 2.34 vs 1.32, p=0.0002), also observed on the T and T-helper populations.Conclusions: Our findings support a dysregulation of the CXCL12/CXCR4 chemotaxis of T-helper lymphocytes in HHT patients, potentially linked to their T-helper lymphopenia and susceptibility to infection.

scholarly journals Topical Propranolol Improves Epistaxis Control in Hereditary Hemorrhagic Telangiectasia (HHT): A Randomized Double-Blind Placebo-Controlled Trial

2020 ◽  
Vol 9 (10) ◽  
pp. 3130
Author(s):  
Meir Mei-Zahav ◽  
Yulia Gendler ◽  
Elchanan Bruckheimer ◽  
Dario Prais ◽  
Einat Birk ◽  
...  
Keyword(s):  
Placebo Group ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Controlled Trial ◽  
Intravenous Iron ◽  
Common Adverse Event ◽  
Open Label ◽  
Two Phase ◽  
Double Blind ◽  
Double Blind Placebo ◽  
Propranolol Group

Epistaxis is a common debilitating manifestation in hereditary hemorrhagic telangiectasia (HHT), due to mucocutaneous telangiectases. The epistaxis can be difficult to control despite available treatments. Dysregulated angiogenesis has been shown to be associated with telangiectases formation. Topical propranolol has demonstrated antiangiogenic properties. We performed a two-phase study, i.e., a double-blind placebo-controlled phase, followed by an open-label phase. The aim of the study was assessment of safety and efficacy of nasal propranolol gel in HHT-related epistaxis. Twenty participants with moderate-severe HHT-related epistaxis were randomized to eight weeks of propranolol gel 1.5%, or placebo 0.5 cc, applied to each nostril twice daily; and continued propranolol for eight weeks in an open-label study. For the propranolol group, the epistaxis severity score (ESS) improved significantly (−2.03 ± 1.7 as compared with −0.35 ± 0.68 for the placebo group, p = 0.009); hemoglobin levels improved significantly (10.5 ± 2.6 to 11.4 ± 2.02 g/dL, p = 0.009); and intravenous iron and blood transfusion requirement decreased. The change in nasal endoscopy findings was not significant. During the open-label period, the ESS score improved significantly in the former placebo group (−1.99 ± 1.41, p = 0.005). The most common adverse event was nasal mucosa burning sensation. No cardiovascular events were reported. Our results suggest that topical propranolol gel is safe and effective in HHT-related epistaxis.

scholarly journals Bilateral Progressive Idiopathic Annular Lipid Keratopathy

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Ramon C. Ghanem ◽  
Vinícius C. Ghanem ◽  
Gustavo Victor ◽  
Milton Ruiz Alves
Keyword(s):  
Visual Acuity ◽  
Family History ◽  
Confocal Microscopy ◽  
Blood Vessels ◽  
Penetrating Keratoplasty ◽  
Ocular Trauma ◽  
Case Reports ◽  
Systemic Disease ◽  
Topical Steroids ◽  
Cholesterol Crystals

Purpose. To report two unusual cases of idiopathic lipid keratopathy with symmetrical bilateral annular corneal lipid infiltration and describe confocal microscopy findings.Methods. Case reports.Results. We report two patients with bilateral peripheral deep stromal lipid deposits beginning in an arcuate pattern and progressing to a complete annular shape. Cholesterol crystals were observed in the paracentral area in both cases with characteristic crystalline-like structures in the confocal microscopy. Deep thin corneal blood vessels were observed in one patient, but no cause for then was established, despite decades of followup. This patient had an idiopathic limbitis as well, occurring in episodes. No previous ocular trauma, systemic disease or family history was reported for both cases.Conclusion. These two cases of idiopathic annular lipid keratopathy were observed for more than a decade with documented slow and insidious progression of the infiltrates, in spite of the use of topical steroids in one case. In the majority of other reported cases, a penetrating keratoplasty was made necessary. Differently, we showed that the visual acuity can remain quite good for years with very slow deterioration.

Efficacy of Thalidomide in the Treatment of Severe Recurrent Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT): Preliminary Results of an Ongoing Study

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 629-629
Author(s):  
Carlo L Balduini ◽  
Francesca Bellistri ◽  
Fabio Pagella ◽  
Francesco Chu ◽  
Elina Matti ◽  
...  
Keyword(s):  
Partial Response ◽  
Severity Score ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Vascular Malformations ◽  
Complete Response ◽  
Open Label ◽  
Off Label ◽  
Preliminary Results ◽  
Recurrent Epistaxis

Abstract Abstract 629 Introduction. Hereditary hemorrhagic telangiectasia (HHT; OMIM 187300 and 600376), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disease that leads to multiregional angiodysplasia. It affects approximately one in 5000 people. Recurrent and severe epistaxis, due to the presence of telangiectasias in nasal mucosa, is the most common presentation of HHT, frequently leading to severe anemia requiring iron supplements and blood transfusions. Multiple approaches, including surgical options, have been tried In the management of HHT epistaxis, but all of them are largely palliative with variable and temporary results. As a consequence, most patients require repeated interventions. Recently, angiogenesis has been implicated in the pathogenesis of HHT and, therefore, it has been suggested that anti-angiogenic substances may be effective in the treatment of vascular malformations. A recent study (Nat Med 2010; 16:420–428) found that oral administration of 100 mg of thalidomide daily lowered the frequency of epistaxis in six of seven treated subjects. The aim of our prospective, non-randomized, phase II, open-label trial is to confirm the effectiveness of this drug in reducing epistaxis and to identify the lowest effective dose in patients with HHT refractory to standard therapy (ClinicalTrials.gov Identifier: NCT01485224). Methods. HHT patients with at least one episode of overt bleeding/week requiring at least one blood transfusion during the last three months and refractory to mini-invasive surgical procedures are enrolled. Thalidomide is administered at a starting dose of 50 mg/day orally. In the event of no response, thalidomide dosage is increased by 50 mg/day every 4 weeks until complete (cessation of nose bleeding) or partial response (reduction in the severity of epistaxis less than complete response) to a maximum dose of 200 mg/day. After the achievement of complete/partial response patients are treated for 16 additional weeks. Monthly follow-up evaluates the epistaxis severity score and the transfusion need, with adverse events being reported. The study, which wants to enroll 34 patients, is currently recruiting participants. Results. Eleven patients, 7 M and 4 F, aged 45–80 years (median 67), with mutations in either ACVRL1 (8 cases) or ENG gene (3 cases) have been enrolled so far and 5 have completed at least 16 weeks of treatment (median follow-up 11 weeks, range 1–28). Treatment was effective in all 9 evaluable patients. Five patients responded within 4 weeks of starting the drug: cessation of nose bleeding was observed in one case, and a large reduction of nose bleeding measured according to a well defined epistaxis severity score (Am J Rhinol Allergy 2009;23:52–58) has been obtained in 4 cases. Four patients achieved a good, partial response after 8 weeks of treatment. As a consequence, thalidomide therapy significantly increased hemoglobin levels and abolished or greatly decreased the need for red blood cell transfusions. Only nonserious, drug-related adverse effects were observed during treatment, including constipation and drowsiness. Three patients completed the treatment and remained stable, off of thalidomide, without the loss of response during the immediate follow-up period. Conclusions. These preliminary results strongly support the hypothesis that low-dose thalidomide is very effective for the treatment of epistaxis in patients with severe HHT who did not benefit from other available modalities of treatment. Disclosures: Off Label Use: Thalidomide is used off-label for tretment of hereditary hemorrhagic telangiectasia.

A novel approach to manage recurrent epistaxis in outpatients with hereditary hemorrhagic telangiectasia

2014 ◽  
Vol 32 (8) ◽  
pp. 952.e1-952.e2 ◽  
Author(s):  
Elena Cantone ◽  
Anna Marino ◽  
Giovanni Castagna ◽  
Stefania Sicignano ◽  
Felice Rega ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Novel Approach ◽  
Recurrent Epistaxis

NCCN Increases the Emphasis on Genetic/Familial High-Risk Assessment in Colorectal Cancer

2014 ◽  
Vol 12 (5S) ◽  
pp. 829-831 ◽  
Author(s):  
Heather Hampel
Keyword(s):  
Colorectal Cancer ◽  
Risk Assessment ◽  
High Risk ◽  
Lynch Syndrome ◽  
Risk Reduction ◽  
Hereditary Colorectal Cancer ◽  
Clinical Criteria ◽  
New Guidelines ◽  
Familial High Risk

NCCN has developed new guidelines for the assessment of high-risk familial/genetic colorectal cancer, and has positioned these recommendations within the guidelines for detection, prevention, and risk reduction. The Panel recommends that all patients with colorectal cancer be screened for Lynch syndrome, which occurs in 1 of every 35 patients and is the most common form of hereditary colorectal cancer. Such screening could be universal so that all tumors are genetically tested, or screening could be restricted to patients under the age of 70 and those aged 70 and older who meet clinical criteria.

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