Materiały źródłowe

• #1 Cure HHT – The Cornerstone of the HHT Community

  https://curehht.org/

  Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Syndrome, is an inherited disease that leads to malformed blood vessels in multiple organs of the body and typically begins with nosebleeds during childhood. HHT can result in serious health problems if not promptly diagnosed and treated. Our mission is to find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT. […] Since our inception in 1991, weve worked tirelessly to raise awareness, improve treatments, and increase patient access to life-saving care. […] Research is the key to our future we fund and drive scientific research to better the lives of HHT patients everywhere.

• #2 Hereditary Hemorrhagic Telangiectasia – UF Health

  https://ufhealth.org/conditions-and-treatments/hereditary-hemorrhagic-telangiectasia

  UF Health is a Center of Excellence for treating Hereditary hemorrhagic telangiectasia. We are the only center of excellence in Florida and one of only 31 in the United States. […] Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder of the blood vessels that can lead to abnormal blood vessel formation called arteriovenous malformation (AVM). […] Persistent bleeding can result in serious health problems if not promptly diagnosed and treated. […] HHT affects about 1 in 5,000 people 90% of whom are undiagnosed. […] The most important aspect of HHT treatment is managing AVMs that cause dangerous bleeding. Treatment options include: Surgery to treat bleeding in some areas, Sclerotherapy for nosebleeds, Electrocautery (heating tissue with electricity), or laser surgery to treat frequent or heavy nosebleeds, Endovascular embolization (injecting a substance through a thin tube) to treat abnormal blood vessels in the lungs, brain and other parts of the body. […] Genetic counseling is recommended for couples who want to have children and who have a family history of HHT. […] Hereditary hemorrhagic telangiectasia is best treated by experienced health care professionals at a center that sees many patients with rare disorders.

• #3 Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6119150/

  Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The diagnosis of hereditary hemorrhagic telangiectasia is clinical, based on the Curaao criteria. Optimal treatment is best delivered via a multidisciplinary approach with appropriate diagnosis, screening and local and/or systemic management of lesions. Anti-angiogenic agents such as bevacizumab have emerged as a promising systemic therapy in reducing bleeding complications but are not curative. Other pharmacological agents include iron supplementation, antifibrinolytics and hormonal treatment. […] The prevention of future HHT complications is as important as treating the immediate active issues (e.g. bleeding) in caring for patients with HHT. Patients are often asymptomatic from undiagnosed AVMs that can lead to significant morbidity and mortality. Knowledge of a patients genetic mutation or family history may help confirm the urgency of certain screening tests over others.

• #4 Hereditary Hemorrhagic Telangiectasia (HHT)

  https://my.clevelandclinic.org/health/diseases/15618-hereditary-hemorrhagic-telangiectasia-hht

  Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that affects blood vessel formation. People with HHT develop small lesions called telangiectases, which can burst and bleed. Frequent nosebleeds are common, but telangiectases in other areas of the body can cause serious complications. […] There is no cure for HHT, but treatments can improve symptoms and reduce the risk of serious complications. […] Your healthcare provider treats you for existing symptoms and tests you for any HHT problems that haven’t shown symptoms yet. […] Treatment may include: Ablation, a minor surgery to zap an area with a laser to make it stop bleeding. […] You may need to see a specialist for treatment related to specific body systems, such as your liver, lungs, gastrointestinal system and brain.

• #5 Clinical manifestations and diagnosis of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-hereditary-hemorrhagic-telangiectasia-osler-weber-rendu-syndrome

  Hereditary hemorrhagic telangiectasia (HHT; also called Osler-Weber-Rendu syndrome) is a vascular disorder inherited as an autosomal dominant trait, with a variety of clinical manifestations that vary between relatives who have the same HHT pathogenic gene variant. […] The most common problems are epistaxis, gastrointestinal bleeding, and iron deficiency anemia, along with characteristic mucocutaneous telangiectasia. […] In addition, arteriovenous malformations (AVMs) frequently affect the pulmonary, hepatic, and/or cerebral circulations, demanding knowledge of the risks and benefits of screening and treatment of patients with these complications. […] The management of HHT is discussed in detail separately. […] Hereditary hemorrhagic telangiectasia (HHT): Routine care including screening for asymptomatic AVMs. […] Hereditary hemorrhagic telangiectasia (HHT): Evaluation and therapy for specific vascular lesions.

• #6 Orphanet: Hereditary hemorrhagic telangiectasia

  https://www.orpha.net/en/disease/detail/774

  An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations. […] The most common clinical signs of hereditary hemorrhagic telangiectasia (HHT) include recurrent epistaxis (nosebleeds), frequently from childhood, and cutaneous or mucosal telangiectases generally presenting later, and increasing with age, where anemia may become an important part of the disease. […] Disease management includes prevention and treatment of epistaxis and anaemia, screening for AVMs, and guidance regarding pregnancy-related issues. […] Awareness of the possibility of AVMs/HHT is important for optimal management of diverse medical states. […] Life expectancy is reduced in unscreened patients. In patients assessed and treated for pulmonary AVMs in an HHT Center, life expectancy is comparable to the general population.

• #7 Hereditary hemorrhagic telangiectasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia/

  Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels. […] Without the normal buffer of the capillaries, the blood moves from the arteries at high pressure into the thinner walled, less elastic veins. The extra pressure tends to strain and enlarge these blood vessels, and may result in compression or irritation of adjacent tissues and frequent episodes of severe bleeding (hemorrhage). […] Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems. […] Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the ENG gene. Type 2 is caused by mutations in the ACVRL1 gene. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is caused by mutations in the SMAD4 gene.

• #8 HHT | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/h/hht

  Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Rendu-Weber syndrome, is a genetic condition which affects the blood vessels. In HHT, there are abnormal connections between some blood vessels. HHT is characterized by one or more of the following: […] HHT is most often diagnosed when the AVMs begin causing symptoms. A clinical diagnosis of HHT can be made if someone is known to have three of the four common signs: […] Nosebleeds are caused by telangiectasias in the nose. Almost all people with HHT will develop frequent nosebleeds not linked with trauma. […] Internal AVMs cannot be seen on physical exam by a doctor so people with HHT may not know they have any. Imaging such as CT scans, MRIs and bubble echos are often needed to identify internal AVMs. […] HHT is caused by genetic changes in one of three genes (ACVRL1, ENG and SMAD4). Almost everyone with a clinical diagnosis of HHT will have a change in one of these genes.

• #9 Hereditary hemorrhagic telangiectasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia/

  This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. […] Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. […] Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. […] Hereditary hemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.

• #10 HHT | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/h/hht

  HHT is a dominant condition. If you have HHT, you have a 50 percent chance of passing it on to each of your children. […] Several complications are possible with HHT: […] Because HHT can affect many systems of the body, people need a whole team of doctors and health care workers to treat each body system. […] The Cincinnati Children’s HHT Center is made up of specialists from a wide variety of backgrounds who care for both children and adults with HHT. […] Clinic is held two times per month at Cincinnati Childrens. The pediatric team works closely with adult specialists to provide complete care for patients of all ages. Patients receive diagnosis, including coordination of genetic testing, treatment, and management of HHT through the HHT Center.

• #11 Hereditary Hemorrhagic Telangiectasia (HHT) | Clinical Outcomes Research | Washington University in St. Louis

  https://otolaryngologyoutcomesresearch.wustl.edu/research/clinical-research/hereditary-hemorrhagic-telangiectasia-hht/

  Hereditary hemorrhagic telangiectasia (HHT) is an inherited autosomal dominant disorder that leads to abnormal formation of blood vessels throughout the body. Patient symptoms primarily consist of bleeding from various mucosal surfaces to more severe or life-threatening hemorrhage in the lung, brain, or liver. […] The physical signs of HHT consist primarily of telangiectasias (dilated capillaries) on mucosal and cutaneous skin surfaces and arterio-venous malformations (AVMs) in various internal organs. The telangiectasias tend to spontaneously rupture, most commonly resulting in nasal or gastrointestinal bleeding. […] A clinical diagnosis of HHT is based on the Curaao Criteria, which involves a combination of epistaxis, telangiectasias, visceral lesions (AVMs), and a family history of a first-degree relative with HHT. Symptoms are age-dependent and gradually emerge over time. By age 20, more than 75% of patients with HHT have developed recurrent epistaxis, which is the leading cause of morbidity in HHT.

• #12 Hereditary hemorrhagic telangiectasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hht/diagnosis-treatment/drc-20351136

  Your healthcare professional may diagnose HHT based on a physical exam, results of imaging tests and a family history. But some symptoms may not show up in children or young adults. Having genetic testing for HHT may confirm the diagnosis. […] Our caring team of Mayo Clinic experts can help you with your hereditary hemorrhagic telangiectasia-related health concerns. […] If you or your child has HHT, if you can, seek treatment at an HHT Center of Excellence. HHT is a rare condition that is best managed at centers that treat all aspects of this condition at every age. So it can be hard to find a specialist to treat it. […] In the United States, Cure HHT names HHT Centers of Excellence for being able to diagnose and treat all aspects of the condition. Mayo Clinic is an HHT Center of Excellence and cares for many people and their family members diagnosed with HHT.

• #13 International HHT Guidelines

  https://hhtguidelines.org/

  Announcing the Second International HHT Guidelines for the Diagnosis and Management of HHT, published in the Annals of Internal Medicine. […] The HHT Guidelines recommendations should facilitate the implementation of key components of HHT (Hereditary Hemorrhagic Telangiectasia) care into clinical practice. […] Pregnant women with HHT should be assessed for their risk of pregnancy and delivery-related complications and should have access to, as needed, a multidisciplinary team that includes HHT experts. […] Timely diagnosis of HHT allows for the appropriate screening and preventative treatment for the individual with HHT and their family members. […] Screening and treatment can prevent life-threatening complications. […] Potentially serious and life-threatening complications from HHT–pulmonary AVMs and brain VMs — can occur at any age. As such, these guidelines focus on their screening and management in children.

• #14 Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2010/1001/p785.html

  Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring in 90 percent of affected patients. […] Patients with confirmed or suspected hereditary hemorrhagic telangiectasia should be screened for brain and lung arteriovenous malformations using magnetic resonance imaging of the brain and contrast echocardiography. […] Patients with a history of pulmonary arteriovenous malformations or those who have not been screened should use antibiotic prophylaxis before dental treatment, endoscopy, or other procedures that could cause bacteremia because of the risk of paradoxical brain embolism or infection.

• #15 Pediatric hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome – Children’s Health

  https://www.childrens.com/specialties-services/conditions/hht

  Hereditary hemorrhagic telangiectasia (HHT) affects blood vessels and can lead to bleeding when abnormally structured blood vessels rupture. HHT can affect many organs. However, the first sign is often unpredictable, severe nosebleeds. […] HHT is sometimes referred to as the „great masquerader” because children may not exhibit any symptoms. If they do, it can be disguised as migraines, anemia, shortness of breath, stroke, congestive heart failure or even liver cirrhosis. Sometimes HHT isn’t correctly diagnosed until people are in their 40s and 50s. […] Overall, treatment for HHT depends on which parts of the body are affected. No cure exists, but treatment can help a patient avoid serious complications.

• #16 Management of patients with hereditary hemorrhagic telangiectasia undergoing general anesthesia: a cohort from a single academic center’s experience

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4267556/

  Hemorrhage from epistaxis can be severe, and relatively focal procedures to the nasal mucosa can require blood transfusions. […] The most frequently performed procedures in this cohort were nasal surgeries directed at treating recurrent epistaxis. […] Because HHT is a progressive disorder, the frequency of bleeding can increase with age, with the onset of epistaxis during adolescence or young adulthood and development of gastrointestinal bleeding later in life. […] Repeated episodes of bleeding can result in chronic iron deficiency anemia, as present in the majority of our patients. […] Therefore, instrumentation of the nasal mucosa (such as placement of a nasogastric tube) should be performed under extreme caution. […] In conclusion, surgical patients with HHT often present with multiorgan involvement from their disease, which can be severe. […] Hemorrhage from epistaxis can be severe, and relatively focal procedures to the nasal mucosa to control bleeding can require blood transfusions and intensive care unit admissions.

• #17 Hereditary Hemorrhagic Telangiectasia Center HHT | Stanford Health Care

  https://stanfordhealthcare.org/medical-clinics/hereditary-hemorrhagic-telangiectasia-center-of-excellence.html

  Leaders in Hereditary Hemorrhagic Telangiectasia (HHT) Care. Our care team draws from breadth of medical and surgical specialties to offer you highly individualized, comprehensive care and support. Specialized expertise in identifying and treating this genetic disorder that often goes undiagnosed. Comprehensive support from the Stanford Health Care Library and other resources to help you and your doctor understand and plan a course of treatment for your condition. Hereditary hemorrhagic telangiectasia or HHT (also called Osler-Weber-Rendu syndrome) is a genetically linked disorder that causes abnormalities in the blood vessels. Patients can develop telangiectasia, which is an abnormal dilation or enlargement of the small blood vessels that can be seen on the skin surface. They may develop an arteriovenous malformation (AVM) in lungs, brain, or liver. AVMs are a tangle of blood vessels that connect the arteries and veins. The development of these abnormal vessels can lead to a variety of symptoms such as nosebleeds, gastrointestinal bleeding, and low blood counts. Most people with HHT function normally, which is why the disorder often may go undiagnosed. If the brain or lungs are involved, severe complications may result. Our HHT doctors collaborate with Dr. David Stevenson and the Stanford Children’s Health through its Vascular Anomaly Genetic Clinic, providing a unique approach to care. The location of the telangiectases or AVMs determines the types of symptoms a person with HHT might experience. Symptoms may include: Nosebleeds, Digestive tract bleeding that causes black stools, Coughing up blood, Low red blood cell count, Red or purple spots on the face or hands, Shortness of breath, Exercise intolerance or fatigue, Migraine headaches, Seizures, Abdominal pain, Leg swelling. AVMs in the brain may cause headaches, stroke, or even brain hemorrhage. When AVMs are in the lungs, there is a risk of life-threatening rupture in the lungs, stroke, or development of a brain abscess. Accurately diagnosing this rare condition HHT is often undiagnosed or misdiagnosed. The Stanford Health Care HHT Center is one of the few clinics in the nation accredited by CureHHT with extensive experience and expertise in the diagnosis of this condition. Comprehensive assessment and diagnostic testing may include: Physical exam, Lab tests, Abdominal ultrasound, Brain MRI, Saline contrast echocardiogram, CT scan chest, Colonoscopy or upper endoscopy, Genetic testing. Our team at the Stanford Health Care HHT Center of Excellence excels at the treatment of this rare condition, no matter which symptoms you may experience. But first, effective treatment starts with precise diagnosis. HHT is suspected in people who have at least three of the following: Nosebleeds are spontaneous and occur repeatedly, Telangiectases are present in sites such as the lips, inside the mouth, on the tongue, on the fingers, and in the nose, AVMs are present in the lung, brain, GI, liver, or spine, Family history indicates that a parent, sibling, or child has HHT. Our team members from different specialties hold a monthly Vascular Anomaly Case Conference to plan the best treatment approach for each patient. The choice of treatment depends on the location of the condition. Actions to help manage nosebleeds may include use of a room humidifying system, nasal sprays and topical gels, and, if necessary, surgery. For AVMs in the brain, treatment options that can be used separately or together include surgery, embolization, and stereotactic radiosurgery (a minimally invasive procedure using precisely targeted radiation). HHT abnormalities in the liver, stomach, and intestine may cause discomfort but may be left untreated unless bleeding develops. If needed, we offer a range of options for gastrointestinal bleeding, including medications and laser treatments. Drug therapy also may be effective for management of liver AVMs. We use laser treatments to manage telangiectases on skin in sensitive areas. Lung AVMs are life-threatening and should be treated even before symptoms appear. We can permanently treat lung AVMs using a minimally invasive procedure known as embolization. During embolization, you receive local anesthesia. The specialist makes a tiny cut in the skin, inserts a catheter into the femoral vein in the groin, and then directs the catheter to the abnormal blood vessels in the lung. Next, synthetic coils are placed in the artery feeding the AVM to permanently block blood flow to the AVM. Patients with a single AVM may be treated on an outpatient basis. Two or more AVMs require inpatient treatment.

• #18 Hereditary Hemorrhagic Telangiectasia (HHT) | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/services/pediatric-genetics/hereditary-hemorrhagic-telangiectasia

  The hereditary hemorrhagic telangiectasia (HHT) center at SSM Health Cardinal Glennon Childrens Hospital is a highly specialized, multidisciplinary center led by nationally recognized experts in pediatric care, and one of the few HHT pediatric specialists in the country. […] HHT is a genetic disorder of the blood vessels, also known as Osler-Weber-Rendu disease. […] Symptoms of HHT in children can include: Chronic nosebleeds, Coughing up blood, Anemia/iron deficiency, Shortness of breath and exercise intolerance, Chronic fatigue, Migraine headaches, Hemorrhagic or ischemic stroke (rare). […] Because its a genetic disease, HHT is detected most accurately through genetic screening. […] If your child is found to have HHT, they should be screened for the malformations (AVMs), particularly if they are symptomatic.

• #19 Hereditary Hemorrhagic Telangiectasia (HHT) | Boston Medical Center

  https://www.bmc.org/patient-care/conditions-we-treat/db/hereditary-hemorrhagic-telangiectasia-hht

  Pulmonary arteriovenous malformations (AVMs) occur in 15-50% of patients with HHT and can be associated with life threatening complications including massive hemoptysis, spontaneous hemothorax, stroke or transient ischemic attack related to paradoxical embolism and cerebral abscess. […] Hepatic AVMs are common among HHT patients, but they are usually clinically silent, and rarely cause complications. […] HHT may be diagnosed by a dermatologist when a patient has multiple telangiectasias on their skin and in the mouth. […] HHT telangiectasias can be treated with a pulsed dye laser, which targets blood vessels, or simple cautery.

• #20 Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: clinical aspects – Meier – Cardiovascular Diagnosis and Therapy

  https://cdt.amegroups.org/article/view/18281/html

  Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of blood vessel formation resulting in mucocutaneous telangiectasias and visceral arteriovenous malformations. […] Management hinges on timely screening and diagnosis, followed by treatment of amenable PAVMs with transcatheter embolization in conjunction with medical management and prophylactic measures to treat and prevent complications. […] PAVMs are found in up to half of patients with HHT and can lead to fatal embolic and hemorrhagic complications. […] The goals of PAVM management are to minimize embolic complications, prevent and treat hemorrhage from PAVM rupture, and improve functional capacity by reducing shunt-related hypoxemia. […] Steps to reduce embolic complications are recommended for all patients with PAVMs and for patients with confirmed or suspected HHT who have not yet been screened for PAVMs. […] The management of HHT patients with PAVMs requires a comprehensive approach that addresses the PAVM directly and HHT generally.

• #21 Hereditary hemorrhagic telangiectasia – Wikipedia

  https://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia

  An acute nosebleed may be managed with a variety of measures, such as packing of the nasal cavity with absorbent swabs or gels. […] Frequent nosebleeds can be prevented in part by keeping the nostrils moist, and by applying saline solution, estrogen-containing creams or tranexamic acid; these have few side effects and may have a small degree of benefit. […] Sclerotherapy is another option to manage the bleeding. This process involves injecting a small amount of an aerated irritant (detergent such as sodium tetradecyl sulfate) directly into the telangiectasias. […] Lung lesions, once identified, are usually treated to prevent episodes of bleeding and more importantly embolism to the brain. […] Given that liver AVMs generally cause high-output cardiac failure, the emphasis is on treating this with diuretics to reduce the circulating blood volume, restriction of salt and fluid intake, and antiarrhythmic agents in case of irregular heart beat. […] The decision to treat brain arteriovenous malformations depends on the symptoms that they cause (such as seizures or headaches).

• #22 Hereditary haemorrhagic telangiectasia: diagnosis, screening and management | Medicine Today

  https://medicinetoday.com.au/mt/2023/may/regular-series/hereditary-haemorrhagic-telangiectasia-diagnosis-screening-and-management

  No treatment is recommended for asymptomatic hepatic AVMs. Most symptomatic hepatic AVMs can be satisfactorily managed with intensive medical therapy aimed at improving high-output cardiac failure and hepatic dysfunction. […] Similar to the management of pulmonary AVMs, the management of CNS AVMs will depend on the site, size and symptoms. The risk of cerebral haemorrhage from these high-flow lesions may warrant treatment, even in young, asymptomatic individuals.

• #23 Hereditary haemorrhagic telangiectasia: diagnosis, screening and management | Medicine Today

  https://medicinetoday.com.au/mt/2023/may/regular-series/hereditary-haemorrhagic-telangiectasia-diagnosis-screening-and-management

  Epistaxis is likely to be the most troublesome day-to-day symptom for patients with HHT and their primary care physicians. Patients with HHT who are reviewed in a multidisciplinary team clinic are provided with education on nasal care, consisting of the use of regular nasal lubricants, such as petroleum jelly, paw paw-containing ointment or moisturising nasal sprays. […] Management of pulmonary AVMs will depend on their size, symptoms and location and the approaches may include surgery, embolisation or continued surveillance. […] Treatment is often unnecessary for GI AVMs, unless aggressive iron therapy has been ineffective in maintaining haemoglobin concentrations. However, the presence of symptoms or a sharp decline in haematocrit levels should prompt upper and lower GI endoscopy to assess for GI bleeding.

• #24 Hereditary Hemorrhagic Telangiectasia – Los Angeles, CA | UCLA Health

  https://www.uclahealth.org/medical-services/radiology/hereditary-hemorrhagic-telangiectasia

  We use established standards for diagnosing HHT, including the Curacao criteria and genetic testing. […] Treatment for hereditary hemorrhagic telangiectasia can vary, depending on what symptoms you experience and how severe they are. […] We may offer procedures that help reduce the frequency and severity of nosebleeds. […] Our surgeons may offer ablation, using laser energy to block the blood vessels causing nosebleeds. […] Our team specializes in HHT treatment, offering multispecialty, research-driven care. […] We offer extensive testing and treatment options to help patients with HHT improve their quality of life and overall health.

• #24 Hereditary Hemorrhagic Telangiectasia – Los Angeles, CA | UCLA Health

  https://www.uclahealth.org/medical-services/radiology/hereditary-hemorrhagic-telangiectasia

  Our multispecialty team provides comprehensive, coordinated care for patients with hereditary hemorrhagic telangiectasia. […] At UCLA Health, our HHT team includes the expertise of more than 10 subspecialty physicians that offer coordinated, comprehensive care for HHT. We provide the full array of screening tools, counseling services and treatment options. […] Before your first visit, we take a full medical history over the phone. […] During your first visit, youll meet with one of our programs co-directors, who functions as your primary HHT doctor and point of contact. […] Our team includes experts in cardiology, dermatology, otolaryngology (ENT), gastroenterology, genetics, hematology, neurology, neurosurgery and pulmonology. […] Our designation as a Center of Excellence with Cure HHT means we provide the full array of services to care for patients with HHT.

• #25 Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2010/1001/p785.html

  All patients with possible or confirmed HHT should be screened for pulmonary AVMs. […] Adults with possible or confirmed HHT should receive MRI to screen for cerebrovascular AVMs using a protocol with and without contrast media administration and using sequences that detect blood products to maximize sensitivity. […] Endonasal coagulation should be considered a first-line treatment option for HHT-related epistaxis requiring surgical intervention. […] Patients with documented pulmonary AVMs (treated or untreated) should be advised to use antibiotic prophylaxis for any procedures that have a risk of bacteremia (e.g., dental); to have air filters on all intravenous lines; and to avoid scuba diving because of the risk of decompression sickness. […] Many patients with HHT have iron deficiency anemia caused by frequent epistaxis and GI bleeding. Treatment options include oral iron supplementation and intravenous iron infusion.

• #26 Hereditary Hemorrhagic Telangiectasia | Condition | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/hereditary-hemorrhagic-telangiectasia/

  Our medical screening protocol is aimed at detecting internal arteriovenous malformations (AVMs) a hallmark of HHT before they cause major medical problems. We encourage all direct relatives of a family with HHT to be screened. […] At UT Southwestern, a number of treatment options are available for HHT and related conditions, such as: […] Patients with significant nosebleeds will be seen by our otolaryngologist. Therapy will be individualized, and mild nosebleeds can be managed with topical therapy, moisturization, and humidification. Patients with more severe nosebleeds have a complete range of options such as laser therapy, embolization therapy, and surgery. […] Most pulmonary AVMs are treated with embolization therapy involving a catheter that enters through the leg; surgery is rarely needed. Most patients will need only one session and will be discharged after several hours. Others might require more than one procedure, and overnight hospitalization is occasionally required. Some AVMs are too small to embolize and will be followed at intervals with CT scans.

• #27 Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6119150/

  Treatment options are patient-specific and are best grouped by local versus systemic measures in a stepwise approach. There are no standard medical therapies for HHT given the few randomized trials in this field. Management can include supportive care, lesion-specific therapy, and systemic treatment. […] The first step in epistaxis management should always be appropriate patient counseling and use of preventive measures within the home to prevent the nasal mucosa from becoming dry. […] Management of epistaxis with antifibrinolytic agents is another consideration when preventive measures and local or topical treatments fail. […] Evidence of GI bleeding or a sharp decline in hematocrit without epistaxis should involve a prompt GI evaluation and an upper and lower endoscopy and, if these do not provide clear results, consideration of video capsule endoscopy.

• #28 Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/2048472-overview

  In mild cases, no treatment is necessary. In more severe cases, treatment consists of management of bleeding via both medical and surgical options, as well as surgical management of AVMs and further sequelae. A coordinated team approach to treatment is recommended. […] Genetic testing of OWRD patients and their family members can confirm the presence of mutations within implicated genes, most commonly the endoglin gene (ENG) in chromosome 9 or the activin receptorlike kinase type I (ALK-1) gene (ALK1) in chromosome 12 (involved in HHT type 1 and type 2, respectively). […] Screening family members for signs of OWRD is reasonable and should include a complete history, physical examination, chest radiography, and arterial blood gas testing (with measurement of the shunt fraction).

• #29 Management of Hereditary Hemorrhagic Telangiectasialogo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b

  https://www.jwatch.org/na52401/2020/10/01/management-hereditary-hemorrhagic-telangiectasia

  Management of Hereditary Hemorrhagic Telangiectasia […] An international panel updates recommendations for managing associated complications. […] A diagnosis of hereditary hemorrhagic telangiectasia (HHT) is often delayed, yet suspicion is raised when patients present with complications, (e.g., acute or chronic bleeding, shunting) from vascular malformations (VMs) of the skin, mucous membranes, brain, lungs, or liver. Now, an international panel provides expert guidance on these key clinical complications and addresses unique concerns for pediatric and obstetrical patients. […] Moisturizing topical therapy is suggested as a first-line treatment for HHT-associated epistaxis, followed by oral tranexamic acid and ablative therapies as second-line options; antiangiogenic agents are offered should the above measures fail to control epistaxis. […] In patients with suspected gastrointestinal bleeding (GIB), endoscopy should be done in centers with HHT expertise; mild GIB can be managed with oral antifibrinolytics, whereas moderate to severe GIB should be managed with systemic antiangiogenic agents. […] In patients who have an indication for antiplatelet or anticoagulant therapy, HHT does not pose an absolute contraindication, though use of direct oral anticoagulants are discouraged. […] Patients aged 15 and older with SMAD-4 HHT should undergo early colon cancer screening. […] Patients with definite or suspected HHT should be screened for liver VMs. […] Children with a family history of HHT should undergo genetic testing; affected children should be screened for pulmonary and brain VMs. […] Women desiring pregnancy should meet with a clinician prior to conception; HHT does not pose an absolute contraindication to an epidural, but patients should meet with anesthesiology prior to delivery.

• #30 Hereditary haemorrhagic telangiectasia (HHT)

  https://www.nhs.uk/conditions/hereditary-haemorrahagic-telangiectasia/

  Hereditary haemorrhagic telangiectasia (HHT) is an inherited genetic disorder that affects the blood vessels. […] People with HHT have some blood vessels that have not developed properly and sometimes cause bleeding, known as arteriovenous malformations (AVMs). […] Frequent bleeding can lead to anaemia and sometimes more serious problems. […] There’s no cure for HHT, but there are effective treatments. […] Some people can be treated by a GP and others need to be under the care of a specialist. […] There are increased risks during pregnancy for women with HHT, such as a slight increased risk of a major bleed or a stroke. […] If you have regular nosebleeds you will probably lose a lot of iron through this loss of blood, especially if you also bleed from telangiectasia in the gut.

• #31 Hereditary Hemorrhagic Telangiectasia | HHT Diagnosis, Symptoms

  https://www.vbiny.org/vascular-birthmarks/hereditary-hemorrhagic-telangiectasia/

  If you are looking for the most advanced and specialized treatment for Hereditary Hemorrhagic Telangiectasia (HHT, Osler-Weber-Rendu Disease), we can help. […] Our practice includes specialists in otolaryngology, interventional radiology, as well as pediatric and adult hematology-oncology, and pulmonary. Genetic testing is also offered. Dr. O and her team make it a priority to provide world-class care in the diagnosis, treatment, management and research of HHT. […] The most common presenting symptom of HHT is frequent nosebleeds. There may also be a family history of a relative with nosebleeds. Therapy includes a combination of nasal hygiene and humidification, medical therapy, laser and surgery. […] Keeping the nasal lining moist is of utmost importance. Daily use of specialized lubricants and humidification are essential.

• #32 Hereditary Hemorrhagic Telangiectasia | HHT Diagnosis, Symptoms

  https://www.vbiny.org/vascular-birthmarks/hereditary-hemorrhagic-telangiectasia/

  A personal home kit for nasal bleeding is essential. Packing for the nose may temporize a situation. […] Bevacizumab (Avastin) is an inhibitor of blood vessel formation. A combined injection of this medication with intranasal laser treatment has been shown to be beneficial. […] Laser Diode and Nd:YAG lasers may be used to successfully target telangiectasias in the nasal cavity. […] Sclerotherapy may be used alone or in combination with laser treatment. […] The principle behind this technique is to replace abnormal mucosa with skin from another part of the body. […] Up to 50% of patients may have a pulmonary AVM. In type 1 HHT, the risk increases to 85%. […] This abnormal vasculature also leads to pulmonary hypertension. […] Treatment of Pulmonary AVM Transcathether embolization is used to treat AVMs. […] Brain AVMs pose a risk of bleeding. […] We are pleased to offer patients our multidisciplinary team approach to patient care. […] If you or someone you know is suffering from the unwanted symptoms of HHT, contact our office today.

• #33 Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2010/1001/p785.html

  Treatment of epistaxis involves local measures, including the use of ointments to decrease drying of the nasal mucosa. […] Laser coagulation of nasal telangiectasias may be helpful for patients who do not respond well to medical treatment and should be considered the first-line treatment option for HHT-related epistaxis requiring surgical intervention. […] Pulmonary AVMs can be successfully embolized with coils. […] Patients who have AVMs, as well as those who have not yet been screened, should receive antibiotic prophylaxis before dental work or other dirty medical procedures to avoid the possible development of brain infection and abscess formation. […] Cerebral AVMs can be treated with embolization, radiotherapy, or surgery.

• #34

  https://haematologica.org/article/view/8582

  Knowledge of a patients genetic mutation or family history may help confirm the urgency of certain screening tests over others. […] Treatment options are patient-specific and are best grouped by local versus systemic measures in a stepwise approach. […] Management of epistaxis with antifibrinolytic agents is another consideration when preventive measures and local or topical treatments fail. […] Management of the anemia and iron deficiency that result from this blood loss is addressed below. […] Estrogen and progestins (e.g. ethinyl estradiol, norethindrone or mestranol) have been used in HHT patients to reduce bleeding complications. […] Anti-VEGF therapies are relatively new for patients with HHT, and their use has been increasing. […] Bevacizumab, an anti-VEGF antibody, is a rational therapeutic for HHT as it may reduce excessive angiogenesis.

• #35 Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6119150/

  Collaboration with a pulmonologist, hepatologist, gastroenterologist, neurologist, neurosurgeon, and interventional radiologist with experience in treating HHT patients is crucial to the management of AVMs found in the lungs, liver or brain. […] The development of anemia can have significant consequences for the patient with HHT. Although oral iron may be adequate for mildly affected HHT patients, many require intravenous iron such as ferumoxytol, iron sucrose or ferric carboxymaltose. […] Estrogen and progestins have been used in HHT patients to reduce bleeding complications. […] Anti-VEGF therapies are relatively new for patients with HHT, and their use has been increasing. Bevacizumab, an anti-VEGF antibody, is a rational therapeutic for HHT as it may reduce excessive angiogenesis.

• #36 Osler-Weber-Rendu Syndrome (HHT/HHT1) | Doctor

  https://patient.info/doctor/osler-weber-rendu-syndrome

  Pregnancy in HHT is associated with an increased risk of life-threatening complications. […] For some years it has been noticed that oestrogens seem to have a beneficial effect on the lesions. […] Oestrogens provoke squamous metaplasia of the epithelium. Oestrogens with progestogens (oral contraceptives) are beneficial in women of reproductive years. […] There is evidence that not everyone will respond and there may be advantage in taking a nasal biopsy and assessing the tissue for oestrogen-binding sites. […] Therapy may be offered on the basis of receptor status. […] Oestrogens also have benefit when used in men but predictable adverse events will occur.

• #37 Hereditary haemorrhagic telangiectasia (HHT)

  https://www.nhs.uk/conditions/hereditary-haemorrahagic-telangiectasia/

  It may be necessary to replace the lost iron with iron supplements. […] People with severe nosebleeds may need emergency nasal packing, where the nose is packed with ribbon gauze or a special nasal sponge. […] If a lot of blood has been lost from bleeding inside the body or after nosebleeds, a blood transfusion may be needed. […] AVMs in the body may require specialist treatment. […] Your HHT specialist will explain any procedures to you in more detail.

• #38 Hereditary hemorrhagic telangiectasia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hht/diagnosis-treatment/drc-20351136

  Medicines that help stop the bleeding linked with HHT can be divided into three broad groups: Hormone-related drugs, Medicines that block blood vessel growth, Medicines that slow clot dissolving. […] Serious nosebleeds are one of the most common signs of HHT. These sometimes happen daily. They can cause so much blood loss that you become anemic. You might need to receive blood, called a transfusion, and iron through an arm vein. […] HHT most often affects the lungs, brain and liver. Procedures to treat AVMs in these organs may include: Embolization, Surgical removal, Stereotactic radiotherapy, Liver transplant. […] To help prevent HHT nosebleeds, you may want to: Not use certain medicines, Not eat certain foods, Keep your nose moist, Not do heavy lifting. […] Connect with others like you for support and answers to your questions in the Blood Cancers Disorders support group on Mayo Clinic Connect, a patient community.

• #39 Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia) Treatment & Management: Approach Considerations, Treatment of Epistaxis, Treatment of Gastrointestinal Bleeding

  https://emedicine.medscape.com/article/2048472-treatment

  Studies recommend that women with HHT who conceive should be considered to have high-risk pregnancies because of rare major complications and improved survival outcome following prior recognition. […] Long-term, systematic follow-up is indicated. Known lesions may recur or progress and new manifestations of the syndrome may develop over time. Patients should be monitored for symptoms and signs of blood loss and anemia with yearly stool guaiac testing and complete blood count (CBC) with differential. […] Patients should be screened for pulmonary, hepatic, and CNS AVMs at the time of diagnosis and at the onset of any suggestive symptoms and signs. Children who have a parent with HHT carry a 50% chance of harboring the same genetic mutation. Accordingly, pulmonary AVM screening and long-term follow-up are advocated for these children, beginning in childhood.

• #40

  https://haematologica.org/article/view/8582

  Collaboration with a pulmonologist, hepatologist, gastroenterologist, neurologist, neurosurgeon, and interventional radiologist with experience in treating HHT patients is crucial to the management of AVMs found in the lungs, liver or brain. […] The development of anemia can have significant consequences for the patient with HHT.

• #41 Hereditary Hemorrhagic Telangiectasia – UChicago Medicine

  https://www.uchicagomedicine.org/conditions-services/neurology-neurosurgery/hht

  Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic condition that causes bleeding due to blood vessels that did not develop correctly. HHT causes arteriovenous malformations (AVMs) tangled connections between arteries and veins. […] Due to the complex nature of hereditary hemorrhagic telangiectasia, most patients require coordinated care by experts in many specialties. […] At the University of Chicago Medicine, we take an integrated, multidisciplinary approach to the diagnosis, evaluation and treatment of individuals with HHT. […] While there is no cure for HHT, the symptoms can be treated. Our services include: […] Endonasal coagulation and mucosal flaps for cases of recurrent nosebleeds […] Endovascular embolization, a minimally invasive procedure performed to stop excessive nosebleeds or to block vascular malformations in the lungs, liver or brain […] Treatment for anemia resulting from recurrent bleeds. […] At UChicago Medicine, our integrated, multidisciplinary team of adult and pediatric experts evaluates patients and coordinates care for hereditary hemorrhagic telangiectasia (HHT).

• #42 What is HHT? | Hereditary Hemorrhagic Telangiectasia Information | Barrow Neurological InstituteSecond Opinion IconGroup 49

  https://www.barrowneuro.org/condition/hht-hereditary-hemorrhagic-telangiectasia/

  Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that causes multiple arteriovenous malformations (AVMs), potentially resulting in bleeding from the blood vessels (hemorrhaging). […] While there is no known cure for HHT, treatments can help improve quality of life and prevent life-threatening complications, such as stroke. […] If you have brain or spinal AVMs due to hereditary hemorrhagic telangiectasia, we can help. Treatment for an AVM depends on its size and location. […] Your doctor may recommend one or a combination of the following treatments: Conventional neurosurgery – The neurosurgeon removes part of your skull to access the AVM and seals off the AVM with special clips before closing the skull. […] Endovascular embolization – In this minimally invasive alternative to open surgery, the neurosurgeon guides a catheter through the network of arteries using X-ray visualization until the thin tube reaches the site of the AVM. […] Radiosurgery – In this noninvasive procedure, focused beams of radiation are used to destroy the AVM.

• #43 Hereditary Hemorrhagic Telangiectasia (HHT) | UC San Diego Health

  https://health.ucsd.edu/care/blood-disorders/hht/

  Laser treatment of telangiectasias on the skin of the hands, face and mouth […] Endovascular embolization for arteriovenous malformations (AVMs) of the lungs or brain […] Radiation and surgical removal of AVMs of the brain […] A range of options for treating gastrointestinal bleeding, including laser photocoagulation, thermal therapy, and intravenous and oral medications […] Intravenous blood vessel inhibitor drugs and adjunct therapeutic management for AVMs of the liver.

• #44 Future treatments for hereditary hemorrhagic telangiectasia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1281-4

  Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler syndrome, is a genetic vascular disorder affecting 1 in 5000-8000 individuals worldwide. This rare disease is characterized by various vascular defects including epistaxis, blood vessel dilations (telangiectasia) and arteriovenous malformations (AVM) in several organs. Presently, the therapeutic treatments for HHT are intended to reduce the symptoms of the disease. However, recent progress has been made using drugs that target VEGF (vascular endothelial growth factor) and the angiogenic pathway with the use of bevacizumab (anti-VEGF antibody). This review aims at reporting these recent developments that should soon allow a better care of HHT patients. […] The first phase II trial, Bevacizumab was administered intravenously to HHT patients complicated by severe liver and cardiac impairments. The trial highlighted the efficacy of this treatment, not only on the liver lesions, as shown by a decrease in the cardiac hyperflow secondary to hepatic vessel malformations, but also on nosebleeds, which were considerably reduced, thereby strongly improving the quality of life of the patients.

• #45 Future treatments for hereditary hemorrhagic telangiectasia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1281-4

  Since then, many case reports showing dramatic improvement of HHT bleedings (epistaxis and digestive bleedings) after bevacizumab treatment have been published and this treatment is now considered in HHT patients with refractory GI bleeding. […] Tacrolimus has been tested in several mouse models for HHT. It was found to decrease the number of retinal arteriovenous malformations induced by BMP9/10-immunodepletion in mice (HHT model). These preclinical works support that Tacrolimus repurposing has therapeutic potential in HHT. […] All these observations prompted us to set up a recent clinical trial to evaluate nasal topical administration of tacrolimus in HHT patients. This phase II multicenter, randomized study was carried out in double blind in order to evaluate the efficacy of this nasal ointment. This ointment is administered for 6 weeks to patients with HHT complicated by nosebleeds and the final readout is the duration of nosebleeds 6 weeks after the end of the treatment. Results are encouraging and are under current analysis.

• #46 Hereditary haemorrhagic telangiectasia

  https://dermnetnz.org/topics/hereditary-haemorrhagic-telangiectasia

  Telangiectases or lesions of the skin can be treated with cautery or dye laser surgery, best performed by a dermatologist. […] GI bleeding causing anaemia is treated with iron replacement therapy. If this is ineffective, blood transfusion and endoscopic treatments may be performed. […] Anti-angiogenesis drugs are under investigation for treatment of HHT. They include topical and systemic use of the monoclonal antibody directed against vascular endothelial growth factor (VGEF), bevacizumab.

• #47 Management of patients with hereditary hemorrhagic telangiectasia undergoing general anesthesia: a cohort from a single academic center’s experience

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4267556/

  Hereditary hemorrhagic telangiectasia is a rare autosomal dominant disease characterized by capillary malformation leading to multisite cutaneomucosal telangiectasias and multiorgan arteriovenous malformations, which can present challenges to anesthetic care. […] The primary aim of this report is to present a large cohort of patients with hereditary hemorrhagic telangiectasia undergoing general anesthesia at our institution in regard to comorbid conditions and complications of surgical and anesthetic management. […] Surgical patients with hereditary hemorrhagic telangiectasia often present with multiorgan involvement. […] The anesthesia provider needs to be aware of the high prevalence of pulmonary arteriovenous malformations, which may be asymptomatic but can lead to embolic complications.

• #48 Raising Awareness for Hereditary Hemorrhagic Telangiectasia (HHT) at UCSF | UCSF Radiology

  https://radiology.ucsf.edu/blog/raising-awareness-hereditary-hemorrhagic-telangiectasia-hht-ucsf

  UCSFs HHT Center of Excellence stands out, with a multidisciplinary team of diagnostic interventional and neurointerventional radiologists, cardiologists, hepatologists, dermatologists, hematologists, neurologists, otolaryngologists, pulmonologists, and neurosurgeons dedicated to addressing the diverse challenges posed by HHT. […] This collaborative effort is crucial in advancing the understanding and management of HHT, as it allows for the integration of various medical perspectives and expertise. […] We are proud to serve our patients with HHT, whether through compassionate multidisciplinary clinical care, basic and translational research, or advocacy.

• #49

  https://umiamihealth.org/en/treatments-and-services/interventional-radiology/vascular-disease/hereditary-hemorrhagic-telangiectasia-(hht)

  If you are diagnosed with HHT and are experiencing one or more symptoms of the disease, treatment can help manage your symptoms to improve your quality of life and reduce the risk of life-threatening complications. With appropriate treatment, you can achieve a near-normal life expectancy. […] HHT expertise and excellence in patient care. UHealth has been named a Hereditary Hemorrhagic Telangiectasia Center of Excellence by Cure HHT. We are equipped with the personnel, expertise, commitment and resources to provide you and your family with comprehensive evaluation, management and education for HTT. Our physicians have the specialized training and expertise necessary for the diagnosis, treatment and follow-up care of adults and children with HHT. […] A multidisciplinary team specializing in the many areas of the body affected by HHT is important for your proper diagnosis and treatment. To provide the best care, UHealths experienced HHT physicians collaborate with our departments of Interventional Radiology, Genetics, Gastroenterology, Neurosurgery, Hematology, ENT, Dermatology, Pulmonology and Cardiology.

• #50 Raising Awareness for Hereditary Hemorrhagic Telangiectasia (HHT) at UCSF | UCSF Radiology

  https://radiology.ucsf.edu/blog/raising-awareness-hereditary-hemorrhagic-telangiectasia-hht-ucsf

  Torianna Lomax Truong, MS, patient care coordinator for the UCSF HHT Center of Excellence. […] HHT is a genetic disorder characterized by abnormal blood vessel growth. These lesions typically appear in the brain, lungs, liver, and gastrointestinal tract, and can cause sudden stroke, heart failure, and pulmonary hypertension if untreated. […] The complexities of HHT require a comprehensive and versatile approach to care. […] This diagnostic journey emphasizes the importance of specialized knowledge and resources in managing HHT. […] The HHT clinic also conducts regular follow-up with patients, conducting imaging studies every one to five years to monitor the progression of lesions. […] This holistic approach aims to provide continuous and tailored care to each patient and contributes to HHT Centers of Excellence demonstrating positive patient outcomes such as fewer hospitalizations, less loss of life, and higher quality of life.

• #51 Management of Hereditary Hemorrhagic Telangiectasialogo-32logo-40logo-60NEJM Journal WatchnejmJW_1L_RGB-b

  https://www.jwatch.org/na52401/2020/10/01/management-hereditary-hemorrhagic-telangiectasia

  Because management of HHT is complex, patients ideally should be cared for in centers with recognized excellence in managing HHT. However, hematologists do not always have access to such centers. Therefore, practical, evidence-based guidelines are beneficial for HHT patients and their hematologists. In keeping with rare disease management, the quality of evidence for each clinical topic is variable, but the expert panel presents recommendations with ≥80% consensus.

• #52 Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

  https://www.mdpi.com/2077-0383/9/11/3581

  Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant disease, is characterized by telangiectases and arteriovenous malformations (AVMs). Untreated AVMs, especially in the lungs—pulmonary AVMs (PAVMs)—can result in morbidity with a decreased life expectancy. […] According to the current International HHT Guidelines screening and, if indicated, treatment of HHT-related organ involvement is strongly recommended in a center with HHT expertise. The intention of this study is to evaluate if by using this approach the life expectancy of HHT patients is no longer negatively affected. […] We found that the life expectancy of patients with HHT who have been systematically screened for HHT-related organ involvement, treated if needed and followed in a center with HHT expertise did not differ from the life expectancy of the non-HHT control group. These results emphasize the importance of systematic screening of HHT patients, treatment and follow-up in an HHT expertise center.

• #53 Hereditary Hemorrhagic Telangiectasia (HHT) and Survival: The Importance of Systematic Screening and Treatment in HHT Centers of Excellence

  https://www.mdpi.com/2077-0383/9/11/3581

  In conclusion, the survival of patients with HHT is not negatively affected by HHT if the HHT patients have been systematically screened and treated for HHT-related organ involvement in a center with HHT expertise. These findings demonstrate the importance of systematic screening of HHT patients and treatment of PAVMs and other HHT-related organ involvement.

• #54 HHT, Hereditary Hemorrhagic Telangiectasia

  https://www.froedtert.com/hht

  Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that affects about one in 5,000 people. HHT is caused by a gene mutation that creates malformed blood vessels that lack the structure and durability required to prevent bleeding. […] Serious complications such as stroke, brain hemorrhage and even death can be prevented with the right care. Our experienced, dedicated team offers the full spectrum of coordinated care, treating HHT as a chronic condition instead of an acute state. […] Our Hereditary Hemorrhagic Telangiectasia Program is the only one in Wisconsin designated as a Center of Excellence by the HHT Foundation International, Inc., and one of only a few designated in the Midwest. […] To learn more about HHT care at Childrens Wisconsin, contact the Interventional Radiology Program at Children’s Wisconsin. Since HHT is hereditary, genetic testing is typically the first step to confirming a diagnosis. […] Treatments for HHT may include medical management, laser procedures and embolization to manage symptoms. […] Our Hereditary Hemorrhagic Telangiectasia Program is designed to educate patients about their disease and give them and their families the tools to cope with HHT when they return home.

• #55 Pediatric Hereditary Hemorrhagic Telangiectasia (HHT) Program | Children’s Hospital of Philadelphia

  https://www.chop.edu/centers-and-programs/pediatric-hereditary-hemorrhagic-telangiectasia-hht-program

  We are a comprehensive, multidisciplinary program dedicated to pediatric patients with hereditary hemorrhagic telangiectasia (HHT). Our specialists care for children and adolescents with known or suspected HHT. Children are referred to our program based on family history, genetic testing and/or symptoms, like recurrent nosebleeds, telangiectasias, or organ arteriovenous malformations (AVMs) (commonly located in the brain, lungs, gastrointestinal tract or liver). […] Our goal is to provide excellent medical care to children and teens with HHT. We help with everything from diagnosis and genetic counseling to imaging and managing issues like AVMs, nosebleeds and iron deficiency anemia. We work closely with patients and their families throughout every step of the care process. […] We treat hereditary hemorrhagic telangiectasia (HHT), formerly known as Osler-Weber-Rendu syndrome, as well as related genetic conditions that also cause cerebrovascular malformations.

• #56 Hereditary Hemorrhagic Telangiectasia (HHT) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/hereditary-hemorrhagic-telangiectasia/

  HHT can cause a wide range of symptoms that vary from child to child and change over time. […] Symptoms relate to the 2 types of abnormal blood vessels found in children with HHT: […] Experts from more than a dozen specialties work together in our Vascular Anomalies Program to make a care plan for your child. […] Diagnosing HHT early is important so we can ease your child’s symptoms and avoid serious problems. Our doctors will work with you and your child to decide on a treatment plan. […] Treatment is aimed at easing or stopping symptoms. […] Our treatment options include: […] Regular check-ups […] Your child’s symptoms may change over time, or they may develop new symptoms. We watch your child closely with regular follow-ups. This helps ensure your child gets the care they need before more serious problems happen.

• #57 Hereditary Hemorrhagic Telangiectasia (also known as HHT, Osler-Weber-Rendu syndrome, Osler-Weber-Rendu disease, Osler-Rendu disease, Osler’s disease, Weber-Osler disease, and Rendu-Osler-Weber syndrome) – CDHO

  https://cdho.org/factsheets/hereditary-hemorrhagic-telangiectasia/

  Gingival bleeding upon scaling is a prime concern. The treatment goals are to prevent and manage hemorrhage. […] Aspirin and non-steroidal anti-inflammatory drugs (NSAIDs, including naproxen and ibuprofen) should be avoided due to the elevated risk of bleeding. […] In order to reduce risk of bleeding from oral telangiectasias, the dental hygienist should advise the patient/client as follows: use a soft-bristled toothbrush, floss only in areas free of telangiectasias, use lip sunscreen to protect against sun exposure, avoid hard, irritating, and hot foods, keep dental prostheses (such as mouth guards) in good condition, ensuring proper fit and avoiding damage to the gingiva and irritation of telangiectasias. […] To address bleeding from oral telangiectasias, the dental hygienist should advise the patient/client as follows: wash hands thoroughly, locate the source of bleeding, apply finger pressure on gauze to the bleeding area for about 15 minutes to stop bleeding; repeat until bleeding stops, go to nearest hospital emergency department if bleeding cannot be controlled.

• #58 Hereditary Hemorrhagic Telangiectasia (also known as HHT, Osler-Weber-Rendu syndrome, Osler-Weber-Rendu disease, Osler-Rendu disease, Osler’s disease, Weber-Osler disease, and Rendu-Osler-Weber syndrome) – CDHO

  https://cdho.org/factsheets/hereditary-hemorrhagic-telangiectasia/

  Is medical consult advised? See above. Additionally, bleeding risk (from oral telangiectasias) should be ascertained for invasive dental hygiene procedures. There are no reliable laboratory tests to determine bleeding tendency in persons with HHT; clinical findings and history of bleeding problems are used to identify patients/clients at risk. […] Is medical clearance required? Yes. […] Is antibiotic prophylaxis required? Yes, if there are pulmonary arteriovenous malformations (PAVMs), whether treated or untreated, or if the patient/client has not yet been screened at a specialized HHT centre. (Blood-borne bacteria resulting from invasive procedures can pass through PAVMs, lodge in the brain, and cause brain abscesses.) If the patient/client has been screened for PAVMs and the tests confirm that there are none, then prophylactic antibiotics are not required.

• #59 The Signs and Symptoms of Hereditary Hemorrhagic Telangiectasia–HHT

  https://dimensionsofdentalhygiene.com/article/the-signs-and-symptoms-of-hereditary-hemorrhagic-telangiectasia/

  HHT is characterized by several telangiectasias throughout the body. […] Because of the many clinical signs of HHT that appear in the oral cavity, head, and neck, dental professionals hold a vital position in the health care strata to detect these cases. […] Oral health professionals should be aware that patients with chronic nosebleeds reported in health screening questionnaires could have HHT. […] Dental professionals are vital in referring patients who may have HHT for diagnosis and treatment due to the syndromes oral manifestations. […] Typically, antibiotic prophylaxis has been recommended for individuals with HHT and PAVMs due to the bacterial risk presented during dental treatment. […] Dental practitioners play a valuable part in the diagnosis of HHT because the first signs often appear in the oral mucosa.

• #60 The Signs and Symptoms of Hereditary Hemorrhagic Telangiectasia–HHT

  https://dimensionsofdentalhygiene.com/article/the-signs-and-symptoms-of-hereditary-hemorrhagic-telangiectasia/

  Dental professionals play an important role in recognizing HHT because the first symptoms usually appear in the oral mucosa. […] To improve the standard of care for patients with HHT, further research by the dental and medical communities is indicated and greater awareness of the disease is needed.

• #61 Hereditary Hemorrhagic Telangiectasia (also known as HHT, Osler-Weber-Rendu syndrome, Osler-Weber-Rendu disease, Osler-Rendu disease, Osler’s disease, Weber-Osler disease, and Rendu-Osler-Weber syndrome) – CDHO

  https://cdho.org/factsheets/hereditary-hemorrhagic-telangiectasia/

  Oral manifestations: The oropharyngeal cavity (along with the skin and nasal cavity) is the most common area for telangiectasias. 75% of patients/clients with HHT will develop lesions on the buccal mucosa and skin, which are usually visible by age 40 years. Telangiectasias are often found on the buccal and labial mucosa; on and under the tongue; on the palate and gingiva; and on the facial skin and perioral region. Intraoral lesions may be macular (flat) or papular (elevated), and are usually pinpoint-sized or pea-sized (and less commonly linear in appearance). Typically having a red/purple appearance, they may resemble mucocutaneous petechiae, but unlike petechiae, telangiectasias blanch upon applied pressure. The lips and tongue are prime areas for small, pinpoint-size telangiectasias. While most oral (and skin) telangiectasias are asymptomatic, they are prone to rupture and hemorrhage. Bleeding gums may result from brushing the teeth or other minor oral trauma. Chronic oral ulcers and vesicles occur because of diminished vascular wall thickness associated with inflammation. Venous lakes may be found on the lips and in the oral mucosa (particularly buccal and lower inner lip). HHT-related anemia (from chronic bleeding) may manifest as atrophic glossitis (bald tongue), angular cheilitis, and pallor of the lips and oral mucosa.

• #62 Hereditary Hemorrhagic Telangiectasia (also known as HHT, Osler-Weber-Rendu syndrome, Osler-Weber-Rendu disease, Osler-Rendu disease, Osler’s disease, Weber-Osler disease, and Rendu-Osler-Weber syndrome) – CDHO

  https://cdho.org/factsheets/hereditary-hemorrhagic-telangiectasia/

  FACT SHEET: Hereditary Hemorrhagic Telangiectasia (also known as HHT, Osler-Weber-Rendu syndrome, Osler-Weber-Rendu disease, Osler-Rendu disease, Oslers disease, Weber-Osler disease, and Rendu-Osler-Weber syndrome) […] Is the initiation of non-invasive dental hygiene procedures* contra-indicated? No. […] Is medical consult advised? Yes, liaison with the patient/clients HHT specialist is advisable regarding the type, severity, and management of the patient/clients HHT before undertaking dental hygiene treatment for the first time. (This includes bleeding risk, if any, for fitting a mouth guard and taking an impression.) Medical consult is also warranted for suspicious, but as yet undiagnosed, bleeding disorder, and if known disease is poorly controlled. […] Is the initiation of invasive dental hygiene procedures contra-indicated? Yes. This is a bleeding disorder that may affect appropriateness or safety, and scaling and root planing, including curetting of surrounding tissue, are contraindicated until the patient/client is medically cleared. In some cases, antibiotic prophylaxis is also required.

• #63 Hereditary Hemorrhagic Telangiectasia (also known as HHT, Osler-Weber-Rendu syndrome, Osler-Weber-Rendu disease, Osler-Rendu disease, Osler’s disease, Weber-Osler disease, and Rendu-Osler-Weber syndrome) – CDHO

  https://cdho.org/factsheets/hereditary-hemorrhagic-telangiectasia/

  Is postponing treatment advised? Possibly. If the patient/client with HHT has not had the appropriate diagnostic tests for pulmonary AVMs, ideally dental hygiene treatment should be delayed until testing occurs. […] Oral management implications: Because HHT is often unrecognized by patients/clients and healthcare providers, the dental hygienist may be in position of detecting oral lesions (as well as facial, neck, and hand lesions) and a history suspicious of HHT (e.g., frequent nosebleeds and/or gum bleeds) in a previously undiagnosed patient/client. This should prompt medical referral for definitive diagnosis and treatment before serious health consequences (particularly complications from arteriovenous malformations) ensue. […] During dental hygiene treatment, certain patients/clients with HHT should remain upright to reduce the risk of nasal bleeding. Others (who have PAVMs with significant shunting that results in orthodeoxia) may better tolerate a recumbent position. Oxygen should be readily available, and blood pressure should be monitored before and after treatment.

• #64 Hereditary Hemorrhagic Telangiectasia (HHT) | Boston Medical Center

  https://www.bmc.org/patient-care/conditions-we-treat/db/hereditary-hemorrhagic-telangiectasia-hht

  Hereditary hemorrhagic telangiectasia (HHT) is typically a hereditary or sometimes, de novo condition that affects the blood vessels. […] This disease usually results in repeated nosebleeds (epistaxis), sometimes responsible for anemia and the presence of small red spots on the skin (tongue, lips and fingers) called telangiectasia. […] One of the most common complaints of patients with HHT is nosebleeds, also called epistaxis. […] Treatment of epistaxis: Often the first step in treatment of nosebleeds is providing humidification through topical saline application, humidifiers, and emollients in the nose (such as saline gel). […] Approximately 50% of patients with HHT have anemia due to iron deficiency. […] Therapeutic anticoagulation and antiplatelet therapy is tolerated by most patients with HHT who need it.

• #65 Hereditary Hemorrhagic Telangiectasia (HHT) > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/hht

  Early diagnosis, treatment, and follow up can help people avoid these complications. […] Treatments include local measures to control nosebleeds, embolization for significant-sized lung AVMs, and embolization, surgery, and stereotactic radiosurgery for brain AVMs. […] Even after treatment, patients should be monitored for the rest of their lives, as certain manifestations may worsen over time and some may not develop until later in life. […] The majority can be treated with nasal lubricants and humidification, laser therapy, medications, or a combination of these treatments. […] While there is no cure for HHT, together at Yale Medicine, we are working to prevent needless tragedies by diagnosing the disorder early and providing excellent treatment to patients and their families with continued monitoring.

• #66

  https://haematologica.org/article/view/9810

  Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is a rare multisystem vascular disorder causing chronic gastrointestinal bleeding, epistaxis, and severe anemia. Bevacizumab, an anti-vascular endothelial growth factor antibody, may be effective to treat bleeding in HHT. This international, multicenter, retrospective study evaluated the use of systemic bevacizumab to treat HHT-associated bleeding and anemia at 12 HHT treatment centers. Hemoglobin, epistaxis severity score, red cell units transfused, and intravenous iron infusions before and after treatment were evaluated using paired means testing and mixed-effects linear models. 238 HHT patients received bevacizumab for a median of 12 (range, 1-96) months. Compared with pretreatment, bevacizumab increased mean hemoglobin by 3.2 g/dL (95% CI, 2.9-3.5 g/dL) and decreased the epistaxis severity score (ESS) by 3.4 (3.2-3.7) points during the first year of treatment. Compared with 6 months pretreatment, RBC units transfused decreased by 82% and iron infusions decreased by 70% during the first 6 months of bevacizumab treatment. Bevacizumab was well tolerated: hypertension, fatigue, and proteinuria were the most common adverse events. In conclusion, systemic bevacizumab was safe and effective to manage chronic bleeding and anemia in HHT.

• #67 Hereditary Hemorrhagic Telangiectasia (HHT) Center

  https://www.massgeneral.org/medicine/pulmonary/treatments-and-services/hht

  The Mass General HHT Center is home to the largest and most active HHT clinical trials program in the United States, hosting trials funded and/or sponsored by the National Institutes of Health, U.S. Department of Defense, and pharmaceutical industry. […] Your participation in clinical trials and/or the biobank is completely voluntary and your decision regarding enrolling in a study will in no way affect the care you receive from us.

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