scholarly journals Severe Recurrent Epistaxis - The Main Symptom of Hereditary Haemorrhagic Teleangiectasia

2018 ◽  
Vol 18 (3) ◽  
pp. 42-48
Author(s):  
M Lucanska ◽  
A Hajtman ◽  
R Pecova
Keyword(s):  
Arterial Embolization ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Therapeutic Modalities ◽  
Vascular Walls ◽  
Organ Systems ◽  
Causal Therapy ◽  
Recurrent Epistaxis ◽  
Weber Syndrome ◽  
Therapeutic Procedures ◽  
Autosomal Inheritance

Abstract Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is of dominant autosomal inheritance. Pathologic changes of vascular walls cause recurrent episodes of bleeding from many organ systems. Recurrent epistaxis is the first and the most frequent symptom of HHT. The causal therapy is not known but there are many therapeutic procedures improving the overall condition. We present a case of a 76-year-old man suffering from HHT, frequently hospitalized and treated for massive nose bleeding. In past a selective arterial embolization was performed thrice; nonetheless, the intensity and frequency of epistaxis remained unchanged. Anterior nasal package and electrocoagulation were performed repeatedly as the “first aid” treatment. In the article we also mention other therapeutic modalities for this diagnosis; unfortunately, their efficacy remains inadequate.

scholarly journals An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)

2022 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Martina Formisano ◽  
Carla Marani ◽  
Siavash Rahimi
Keyword(s):  
Fluorescein Angiography ◽  
Near Infrared ◽  
Transforming Growth Factor ◽  
Clinical Manifestations ◽  
Wide Field ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Near Infrared Reflectance ◽  
Early Management ◽  
Recurrent Epistaxis ◽  
Weber Syndrome

AbstractHereditary haemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber syndrome is a rare autosomal dominant disease, characterised by systemic angiodysplasia. Dysfunction of the signalling pathway of β transforming growth factor is the main cause of HHT principally owing to mutations of the genes encoding for endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1). Clinical manifestations can range from mucocutaneous telangiectasia to organ arterio-venous malformations and recurrent epistaxis. The early clinical manifestations may sometimes be subtle, and diagnosis may be delayed. The main ophthalmic manifestations historically reported in HHT are haemorrhagic epiphora, and conjunctival telangiectasia present in 45–65% of cases, however, imaging with wide-field fluorescein angiography has recently shown peripheral retinal telangiectasia in 83% of patients. Optimal management of HHT requires both understanding of the clinical presentations and detection of early signs of disease. Advances in imaging methods in ophthalmology such as wide-field fluorescein angiography, spectral domain optical coherence tomography, and near infrared reflectance promise further insight into the ophthalmic signs of HHT towards improved diagnosis and early management of possible severe complications.

Laser Photocoagulation in Hereditary Hemorrhagic Telangiectasia

1981 ◽  
Vol 89 (2) ◽  
pp. 204-208 ◽  
Author(s):  
James L. Parkin ◽  
John A. Dixon
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Laser Photocoagulation ◽  
Arterial Embolization ◽  
Arterial Ligation ◽  
Limited Success ◽  
Flexible Fiber ◽  
Recurrent Epistaxis ◽  
Weber Syndrome ◽  
Laser Sources

Recurrent epistaxis is usually the main symptom found in patients with hereditary hemorrhagic telangiectasia (HHT)—Osler Rendu Weber syndrome. Therapies have included intranasal cautery, septal dermoplasty, intra-arterial embolization, and arterial ligation. These procedures have met with limited success. Laser photocoagulation has achieved early success in the gastrointestinal (GI) telangiectatic lesions. In this report, cutaneous and intranasal lesions of eight HHT patients have been treated with laser photocoagulation using a flexible fiber delivery system connected to 3 W argon and 55 W neodymium:yttrium-aluminum-garnet (Nd:YAG) laser sources. The patients noted a great reduction in the frequency and severity of epistaxis, reduction in the need for blood transfusion, and reduction in iron therapy necessary to maintain adequate hemoglobin levels. Previously, five of these patients were considered treatment failures after extensive surgical therapy. No serious complications have been encountered. Laser photocoagulation of HHT patients appears to be a promising therapeutic advance. The progressive nature of HHT necessitates close follow-up and retreatment of new lesions as they appear.

scholarly journals De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

2021 ◽  
pp. jmedgenet-2020-107427
Author(s):  
Aviel Ragamin ◽  
Carolina C Gomes ◽  
Karen Bindels-de Heus ◽  
Renata Sandoval ◽  
Angelia V Bassenden ◽  
...  
Keyword(s):  
Giant Cell ◽  
De Novo ◽  
Neuromuscular Disorders ◽  
Somatic Mosaicism ◽  
Ion Leakage ◽  
Gain Of Function ◽  
Therapeutic Modalities ◽  
Organ Systems ◽  
Heterozygous Variant ◽  
Systemic Disorder

BackgroundPathogenic germline variants in Transient Receptor Potential Vanilloid 4 Cation Channel (TRPV4) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4, at Met713.MethodsHere we report two unrelated women with a de novo germline p.Leu619Pro TRPV4 variant and an overlapping systemic disorder affecting all organs individually described in TRPV4 channelopathies.ResultsFrom an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-rich lesions of the jaws and craniofacial/skull bones, and other skeletal lesions. One patient had a relatively milder disease phenotype possibly due to postzygotic somatic mosaicism. Indeed, the TRPV4 p.Leu619Pro variant was present at a lower frequency (variant allele frequency (VAF)=21.6%) than expected for a heterozygous variant as seen in the other proband, and showed variable regional frequency in the GCLJ (VAF ranging from 42% to 10%). In silico structural analysis suggests that the gain-of-function p.Leu619Pro alters the ion channel activity leading to constitutive ion leakage.ConclusionOur findings define a novel polysystemic syndrome due to germline TRPV4 p.Leu619Pro and further extend the spectrum of TRPV4 channelopathies. They further highlight the convergence of TRPV4 mutations on different organ systems leading to complex phenotypes which are further mitigated by possible post-zygotic mosaicism. Treatment of this disorder is challenging, and surgical intervention of the GCLJ worsens the lesions, suggesting the future use of MEK inhibitors and TRPV4 antagonists as therapeutic modalities for unmet clinical needs.

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

scholarly journals Spontaneous Thrombosis of an Orbital Arteriovenous Malformation Revealing Hereditary Haemorrhagic Telangiectasia (Rendu-Osler-Weber Disease)

2011 ◽  
Vol 17 (4) ◽  
pp. 466-471 ◽  
Author(s):  
C. Van Went ◽  
A. Ozanne ◽  
G. Saliou ◽  
G. Dethorey ◽  
I. De Monchy ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Intraocular Pressure ◽  
Arteriovenous Malformation ◽  
Genetic Disorder ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Spontaneous Thrombosis ◽  
Vein Thrombosis ◽  
Recurrent Epistaxis ◽  
The Right ◽  
Central Retinal Vein

Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic disorder responsible for cutaneous or mucosal telangiectasia and arteriovenous malformations (AVMs). The most frequent locations are lung and brain. In contrast, orbital AVMs are very rare. We describe a case of symptomatic orbital arteriovenous malformation due to spontaneous thrombosis. A 65-year-old woman was referred for chronic right eye proptosis associated with dilation of conjunctival vessels with a jellyfish pattern. Right visual acuity was 20/40 and intraocular pressure was 40 mmHg. Personal and familial history of recurrent epistaxis, associated with multiple telangiectasia within lips and palate, led to the diagnosis of HHT. Magnetic resonance imaging (MRI) completed with cerebral angiography found a giant and occluded AVM within the right orbit. Other AVMs were also found in brain and chest, confirming the diagnosis. Antiglaucomatous eyedrops were added to reduce intraocular pressure and a steroid therapy was begun. Two months later, visual acuity decreased in the right eye, due to a central retinal vein thrombosis. In conclusion, Most brain or pulmonary AVM can be treated by embolization. By contrast, this treatment in case of orbital location can lead to central retinal artery and/or central retinal vein occlusion, which may also appear as a spontaneous complication of the orbital AVM. Therapeutic management of orbital AVM is thus not standardized, and the balance between spontaneous and iatrogenic risk of visual loss has to be taken into account.

scholarly journals Pleiotropic Immune Functions of Chemokine Receptor 6 in Health and Disease

Medicines ◽  
2018 ◽  
Vol 5 (3) ◽  
pp. 69 ◽  
Author(s):  
Ranmali Ranasinghe ◽  
Rajaraman Eri
Keyword(s):  
Chemokine Receptor ◽  
Immune Modulation ◽  
Cancer Metastasis ◽  
Treg Cells ◽  
Multiple Organ ◽  
Unique Contribution ◽  
Immune Functions ◽  
Multiple Systems ◽  
Therapeutic Modalities ◽  
Organ Systems

C-C chemoattractant cytokine (chemokine) receptor 6 (CCR6) and its exclusive binding molecule CCL20 is an extremely important chemokine receptor-ligand pair which controls cell migration and immune induction during inflammatory disease. Not many scientific studies have been undertaken to study its immune mechanisms in detail, but its unique contribution to steady state cell chemotaxis in upholding immune tolerance and regulating immune homeostasis during inflammation is evident in multiple systems in the human body, including skin, liver, lung, kidney, brain, eye, joints, gonads and the gut. The role of CCR6 is constitutively expressed as a series of much debilitating severe inflammatory and autoimmune diseases, Human Immunodeficiency Virus (HIV) and cancer metastasis. CD4+ T cells, the central organizers of adaptive immunity, are stringently mobilized by the CCR6/CCL20 axis also induced by cytokines and a host of other factors in a carefully executed immune modulation scenario, to bring about a delicate balance between inflammation inducing TH17 cells and regulatory Treg cells. Although the exact immune regulatory role is not elucidated as yet, the CCR6/CCL20 axis is implicated as a front runner which determines the polarization of TH17 and regulatory Treg cells, upon which depends the resolution or progression of many debilitating disorders. This review therefore aims at emphasizing the pleiotropic significance of the chemokines CCR6 and CCL20 in immunologic function in multiple organ systems, thereby hoping to accentuate its value in future therapeutic modalities.

scholarly journals Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Olivier Dupuis ◽  
Laura Delagrange ◽  
Sophie Dupuis-Girod
Keyword(s):  
Heart Failure ◽  
Literature Review ◽  
Arteriovenous Malformations ◽  
Case Reports ◽  
Case Series ◽  
Main Body ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Review Of The Literature ◽  
Management Decisions ◽  
Recurrent Epistaxis

Abstract 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.

A natural obturator in hereditary haemorrhagic telangiectasia

2009 ◽  
Vol 123 (6) ◽  
pp. 695-696
Author(s):  
A Soni-Jaiswal ◽  
T J Woolford
Keyword(s):  
Case Report ◽  
Nasal Polyps ◽  
Interesting Case ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Nasal Airflow ◽  
Frequent Episodes ◽  
Recurrent Epistaxis ◽  
Management Challenge

AbstractObjective:Most patients with hereditary haemorrhagic telangiectasia suffer with frequent episodes of epistaxis. The aim of this case report is to highlight the effect on epistaxis, occurring in hereditary haemorrhagic telangiectasia, when nasal airflow ceases.Case report:We present the interesting case of a patient with hereditary haemorrhagic telangiectasia who experienced cessation of her recurrent, refractory epistaxis through the development of coexisting polyp disease. The patient's enlarged, grade three nasal polyps were behaving as physiological obturators, limiting airflow through her nose. This reduced the intranasal trauma and subsequent frequency of her nosebleeds.Conclusion:Epistaxis is a debilitating part of hereditary haemorrhagic telangiectasia, and poses a frequent management challenge. Our patient was more tolerant of her grade three nasal polyps than of her recurrent epistaxis. This case highlights the importance of reducing nasal airflow when treating patients with hereditary haemorrhagic telangiectasia.

scholarly journals Vacuolar H+-ATPase: An Essential Multitasking Enzyme in Physiology and Pathophysiology

2014 ◽  
Vol 2014 ◽  
pp. 1-21 ◽  
Author(s):  
L. Shannon Holliday
Keyword(s):  
Pancreatic Beta Cells ◽  
Eukaryotic Cells ◽  
Proton Pumps ◽  
Cell Type ◽  
Therapeutic Modalities ◽  
Organ Systems ◽  
Specific Organ ◽  
A Cell ◽  
Cell Type Specific ◽  
Membrane Bound

Vacuolar H+-ATPases (V-ATPases) are large multisubunit proton pumps that are required for housekeeping acidification of membrane-bound compartments in eukaryotic cells. Mammalian V-ATPases are composed of 13 different subunits. Their housekeeping functions include acidifying endosomes, lysosomes, phagosomes, compartments for uncoupling receptors and ligands, autophagosomes, and elements of the Golgi apparatus. Specialized cells, including osteoclasts, intercalated cells in the kidney and pancreatic beta cells, contain both the housekeeping V-ATPases and an additional subset of V-ATPases, which plays a cell type specific role. The specialized V-ATPases are typically marked by the inclusion of cell type specific isoforms of one or more of the subunits. Three human diseases caused by mutations of isoforms of subunits have been identified. Cancer cells utilize V-ATPases in unusual ways; characterization of V-ATPases may lead to new therapeutic modalities for the treatment of cancer. Two accessory proteins to the V-ATPase have been identified that regulate the proton pump. One is the (pro)renin receptor and data is emerging that indicates that V-ATPase may be intimately linked to renin/angiotensin signaling both systemically and locally. In summary, V-ATPases play vital housekeeping roles in eukaryotic cells. Specialized versions of the pump are required by specific organ systems and are involved in diseases.

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