Materiały źródłowe

• #1 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. […] The symptoms of HHT vary from person to person, depending on where abnormal blood vessels develop in the body. Some people may have no significant signs, but others may develop very serious symptoms. […] The most common symptom is frequent nosebleeds (epistaxis). […] Some people with HHT may also have: Anemia (not enough red blood cells). Bleeding in the stomach or intestines. […] People with HHT may develop abnormalities in larger blood vessels, called arteriovenous malformations (AVMs). AVMs can form in the lungs, brain, spinal cord and liver, and they can cause: Blue discoloration of the skin. Coughing up blood (hemoptysis). Fatigue. Headaches. Trouble breathing (dyspnea).

• #1 Hereditary hemorrhagic telangiectasia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hht/symptoms-causes/syc-20351135

  Nosebleeds that happen for no known reason are the most common symptom. […] Symptoms of HHT include: Nosebleeds. These can happen every day. They often start in childhood. […] Ongoing bleeding from the nose and the intestinal tract can result in serious iron deficiency anemia and poor quality of life. […] Iron deficiency anemia due to bleeding from the nose or intestinal tract. […] AVMs may get larger over time. They can bleed or burst. This can result in serious complications, including death.

• #2 Symptoms of Hereditary Hemorrhagic Telangiectasia (HHT)

  https://www.upmc.com/services/hht/overview/symptoms

  HHT may manifest differently among different families, and even in different people within the same family. […] The age when people begin having HHT symptoms varies. Most experience some symptoms by the age of 20, and almost all affected individuals will have some signs or symptoms by the age of 50. […] The most common HHT symptoms include: […] Greater than 90% of people with HHT have recurrent nosebleeds that can range from mild to very severe. Nosebleeds occur when nasal telangiectasias rupture. […] These often occur on the fingertips, lips, and tongue. They look like small red dots. When you put pressure on them, they turn white since pressure prevents the high-flow blood from moving through the malformation. […] Some rare, but very serious, complications of HHT include: […] Some people with HHT may experience these symptoms because they have anemia due to blood loss from nasal and/or gastrointestinal telangiectasias. The presence of lung arteriovenous malformations (AVMs) can also cause fatigue and shortness of breath.

• #2 Signs and Symptoms – CureHHT

  https://curehht.org/understanding-hht/what-is-hht/signs-and-symptoms/

  There are many times that a person with HHT may appear to have no symptoms at all. […] Some people with HHT may show almost no signs of the disease until they are in their 40s or 50s. However, just because a person reaches 50 without symptoms does not mean they are not affected with HHT. […] 95% of people with HHT will develop symptoms over their lifetime. […] Recurring nosebleeds affect about 90% of people with HHT and is the most common symptom of the disease. […] Nosebleeds are often the earliest symptom of HHT. […] Iron deficiency and anemia are common among people with HHT and are primarily a consequence of nasal and GI bleeding. This can lead to shortness of breath, exercise intolerance, and fatigue. […] 80% of HHT patients have telangiectasia in the stomach or intestines, though it is estimated that only 30% will develop obvious gastrointestinal (GI) bleeding which usually starts when the patient is 50 or 60.

• #2 Signs and Symptoms – CureHHT

  https://curehht.org/understanding-hht/what-is-hht/signs-and-symptoms/

  Lung AVMs can cause low oxygen saturation which, along with pulmonary hypertension, can lead to shortness of breath, exercise intolerance, and fatigue. […] Symptoms may occur with aging, when the heart has been overworked for years by pumping extra blood through the low-resistance pathway of the AVM and by chronic anemia. This can lead to shortness of breath, exercise intolerance, and fatigue. […] Seizures and headaches can also result from VMs in the brain.

• #2 Symptoms of Hereditary Hemorrhagic Telangiectasia (HHT)

  https://www.upmc.com/services/hht/overview/symptoms

  Ruptured telangiectasias in the stomach and intestines can cause blood in the stool. […] Anemia is a frequent complication of HHT owing to the prevalence of epistaxis and GI bleeding. Iron supplementation (either oral or intravenous) is the first-line therapy for this blood-loss anemia. In more severe cases, transfusion (sometimes frequent) is required. […] Ruptured brain AVMs may result in hemorrhagic (bleeding) stroke. […] Lung AVMs can result in embolic stroke. This happens when a blood clot that the small lung capillaries normally trap passes into lung veins, via an AVM, and then lodges in and blocks small vessels in the brain. […] This can occur when bacteria that the lung capillaries normally filter out of circulation passes through lung AVMs and into the brain, causing an infection. […] This is a possible long-term effect of liver AVMs.

• #3 Hereditary Hemorrhagic Telangiectasia – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1351/

  The diagnosis of HHT is established in a proband with three or more of the following clinical features: Epistaxis, Mucocutaneous telangiectases in characteristic locations, Visceral AVMs, A first-degree relative diagnosed with HHT on the basis of the preceding criteria. […] The most common feature that brings individuals with HHT to medical attention are epistaxis (nosebleeds). […] Minor insults to the nasal mucosa (e.g., drying air) result in recurrent bleeding of nasal telangiectases. Epistaxis has an average age of onset of approximately 12 years; 33% have onset by age ten years, approximately 80% by age 20 years, and 90% before age 30 years. However, many do not have nosebleeds that are frequent or severe enough to cause anemia or to result in medical treatment or consultation. […] Telangiectases associated with HHT are found primarily on the lips, tongue, face, fingers, buccal and gastrointestinal (GI) mucosa, and nasal mucosa. The average age of onset for non-nasal telangiectases is generally later than epistaxis but may be during childhood; 30% of affected individuals report telangiectases first appearing before age 20 years and two thirds before age 40 years.

• #3 Hereditary Hemorrhagic Telangiectasia – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1351/

  Approximately one quarter of all individuals with HHT eventually have bleeding from GI telangiectases; GI bleeding is rare before age 50 years. It presents most often as iron deficiency anemia, rather than acute GI hemorrhage; but GI bleeding is a less common cause of iron deficiency in individuals with HHT than underappreciated epistaxis. […] AVMs occur most commonly in the lungs, liver, and brain. While hemorrhage is often the presenting symptom of cerebral AVMs, most lung and liver AVMs present as a consequence of blood shunting through the abnormal vessel and bypassing the capillary bed. […] Pulmonary AVMs occur in approximately 50% of affected individuals and create high-flow right-to-left shunts. Pulmonary AVMs present with a wide variety of clinical manifestations including dyspnea or hypoxemia; but even in asymptomatic individuals they pose a significant risk of serious complications including stroke, transient ischemic attacks, and brain abscess or other abscesses when air, thrombi, or bacteria shunt through the AVM, bypassing the filtering capabilities of the lungs. […] The frequency of hepatic vascular abnormalities was 74% in one study that systematically imaged the liver of affected individuals using CT, and 41% in another study using ultrasound examination. However, only a small minority were symptomatic.

• #4 Information on Hereditary Hemorrhagic Telangiectasia (HHT)

  https://melbentgroup.com.au/hereditary-hemorrhagic-telangiectasia/

  HHT is a genetic (inherited) disease, also known as Osler-Weber-Rendu syndrome, in which abnormal blood vessels (telangiectasia) may develop. […] For the majority of patients, nosebleeds are the main problem. […] Some people with HHT may develop abnormal blood vessels in their lungs (pulmonary arteriovenous malformations (PAVMs)) or brain (cerebral AVMs (CAVMs)). These may cause complications so screening tests are recommended. […] In about 20% of cases, bleeding from the lining of the stomach or intestines may occur (usually later in life). […] The first signs of HHT in a child may be that nosebleeds are more frequent and heavier than those of other children; this may not happen until after the age of 10. […] Half of patients with HHT have frequent nosebleeds by the age of 16, and over 90% have regular nose bleeds by the age of 30.

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

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

  Recurrent and severe epistaxis is the most common presentation, frequently leading to severe anemia that necessitates transfusion. GI bleeding is also prevalent. […] Symptom onset may be delayed until the fourth decade of life (~90% of patients manifest by age 40 years) or later. […] The presentation of HHT can be highly variable among families and even within the same family. […] Frequent nosebleeds and melena may result from telangiectasia in the nose and GI tract. Patients with the severe form of HHT have heavy bleeding and resultant iron-deficiency anemia. Recurrent epistaxis is observed in as many as 90% of patients. In half the patients, the epistaxis becomes more serious with age, and blood transfusions are required in 10-30% of patients.

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

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

  Recurrent epistaxis is the most common presenting problem; however, some patients present with a catastrophic event (e.g., sudden death, stroke, pulmonary hemorrhage) related to major organ involvement. […] Epistaxis occurs secondary to telangiectasias that develop on the nasal mucosa. Air passing through the nose leads to dryness and rupture of these fragile blood vessels. Epistaxis is the most common symptom among patients with HHT, occurring in 90 percent of patients, but it has a wide range of severity, even among affected family members. In some patients, it may be little more than a social nuisance; in others, it can be life threatening. Epistaxis tends to worsen with age, but 10 percent of patients with HHT will not have nosebleeds. These patients may mistakenly believe they do not have the disease, which could allow other manifestations of the disease to go undiagnosed.

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

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

  Pulmonary AVMs affect 15 to 30 percent of patients with HHT. The disorder should be considered in any patient diagnosed with a pulmonary AVM because 70 percent of these occur in patients with HHT. Pulmonary AVMs provide a right-to-left shunt between the pulmonary and systemic circulation, which can lead to hypoxemia. The normal pulmonary capillary bed prevents bacteria and emboli from reaching the systemic circulation. In the presence of a pulmonary AVM, this filtering function is absent. Patients with marked pulmonary AVMs can develop brain abscesses or experience cerebrovascular accidents. […] Cerebral AVMs affect more than 10 percent of patients with HHT. They can cause headache, seizures, and hemorrhage. Hemorrhage caused by rupture of cerebral AVMs can be devastating and lead to long-term disability or death. MRI is currently the best way to detect these vascular malformations.

• #7 HHT | Symptoms, Diagnosis & Treatment

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

  Telangiectasias are most common on the lips, tongue, mouth, and fingertips. They are also seen on the fingers, ears, face, and chest. People with HHT usually have several to many telangiectasias. The chance to develop telangiectasias increases with age. […] 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. Some people with internal AVMs will have signs of the AVM without knowing they have one. For example, a person with a lung AVM may have problems breathing and increased fatigue. […] About 80 percent of people with HHT have telangiectasias in their stomach and intestines; but only 20 percent develop bleeding, most often later in life. Signs of bleeding include blood in the stool (black or bloody stools) and anemia. Anemia can cause fatigue, shortness of breath, chest pain or lightheaded feelings.

• #8 Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis | Genetics in Medicine

  https://www.nature.com/articles/gim9201198

  Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a disorder of development of the vasculature characterized by telangiectases and arteriovenous malformations in specific locations. The most common features of the disorder, nosebleeds, and telangiectases on the lips, hands, and oral mucosa are often quite subtle. Telangiectases in the nasal and gastrointestinal mucosa and brain arteriovenous malformations generally present with hemorrhage. Approximately 50% of diagnosed individuals report having nosebleeds by the age of 10 years and 80-90% by the age of 21 years. As many as 95% eventually develop recurrent epistaxis. The percentage of individuals with telangiectases of the hands, face, and oral cavity is similar to the percentage with epistaxis, but the age of onset of visible telangiectases is generally 5-30 years later than for epistaxis. Cerebral AVMs are overwhelmingly congenital, and intracranial hemorrhage secondary to cerebral AVM has been reported as the presenting symptom of HHT in infants and children with HHT. Nasal bleeding is the feature that most commonly brings patients with HHT to medical attention. Average age of onset is approximately 12 years but ranges from infancy to adulthood. Although nosebleeds are often spontaneous, they also occur more often in patients with HHT secondary to minimal trauma to the nose. Nosebleed frequency in affected adults ranges from several per year to several per day. Many affected individuals have only mild, infrequent nosebleeds that never require medical attention, and thus, the nose bleeding can be difficult to elicit when taking a medical or family history. Approximately one quarter of all adults with HHT eventually have GI bleeding, and the responsible telangiectases are overwhelmingly in the upper GI tract. Bleeding from GI telangiectases most commonly begins after the age of 50 years, is usually slow but persistent, and often becomes increasingly severe with age. The prevalence of PAVMs in patients with HHT is dependent on the method used for detection. In one recent study, 37% of patients with HHT had at least one AVM demonstrable by high-resolution computed tomography (CT). However, 59% had evidence of a pulmonary shunt by transthoracic contrast echocardiography (TTCE) with agitated saline contrast. Cerebral AVMs occur in approximately 10% of affected individuals. The most common central nervous system insults in patients with HHT, brain abscess, and ischemic stroke are actually secondary to the right-to-left shunting associated with PAVMs.

• #9 Hereditary haemorrhagic telangiectasia (HHT)

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

  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. […] The typical symptoms of HHT include: regular nosebleeds, visible red spots in certain places on the body. […] Symptoms usually start in childhood or in the teenage years, but can start at any age. […] Nosebleeds are often the first sign of HHT. They may be frequent and persistent. […] The loss of blood can lead to iron-deficiency anaemia, if the iron is not replaced through the diet and with iron supplements. […] Abnormal blood vessels (telangiectasia) may appear just underneath the skin, which show as red or purple spots. […] Red or purple spots usually form on the fingertip pads, the lips, and the lining of the nose or the gut.

• #10 Hereditary haemorrhagic telangiectasia

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

  Hereditary haemorrhagic telangiectasia (HHT) is also known as Osler-Rendu-Weber syndrome. It is a rare inherited disorder that affects blood vessels throughout the body and is characterised by a tendency for bleeding (haemorrhage, American spelling hemorrhage), in particular recurrent epistaxis (nosebleeds); and skin telangiectasia (skin lesions resulting from dilation of blood vessels). […] The most common sign of HHT is telangiectases in the nose and the most common symptom is recurring nosebleeds. The first sign of HHT usually does not occur until puberty or adulthood with the average age of the first nosebleed occurring at 12 years. Bleeding may occur as often as everyday or as infrequently as once a month. Recurrent nosebleeds are seen in 50-80% of patients with HHT. […] Telangiectases in other parts of the body is not usually seen until after puberty and is most apparent in people aged between 20 and 40 years. It occurs in about 95% of patients with HHT.

• #11 HHT Symptoms

  https://www.froedtert.com/hht/symptoms

  Rupture and bleeding in the skin of the hands, face and mouth are also found in about 95 percent of people who have hereditary hemorrhagic telangiectasia. […] HHT can be fatal if the AVM is in the patients brain, lungs or GI tract (stomach and intestines). […] Approximately 15 percent of HHT patients develop AVMs in the lungs. […] Brain AVMs are less common and are found in only about 5-20 percent of people with HHT. […] Symptoms of HHT vary greatly, even within the same family. […] HHT typically manifests itself in late adolescence into early adulthood. However, children can have HHT and the symptoms as well. Some patients dont show symptoms until the age of 40.

• #12 Hereditary Hemorrhagic Telangiectasia (HHT)

  https://radiology.ucsf.edu/patient-care/specialty-imaging/HHT

  Approximately 40 percent of people with HHT have arteriovenous malformations in the lungs (pulmonary AVM or PAVM). PAVMs, particularly during pregnancy, have a risk of rupturing when blood volume tends to increase. This can be life-threatening. […] About 80 percent of those with HHT have telangiectasias in their stomach or intestines, but only 20 percent develop obvious gastrointestinal (GI) bleeding. The bleeding can range from mild to severe. Symptoms of GI bleeding are black or bloody stools and/or anemia. Anemia can cause fatigue, shortness of breath, chest pain, or lightheaded feelings. […] Liver AVMs are found in 32 to 74 percent of people with HHT, but they only cause symptoms in an estimated eight percent. AVMs in the liver occasionally cause heart failure, usually later in life.

• #13 Frequently Asked Questions about Hereditary Hemorrhagic Telangiectasia (HHT)

  https://www.upmc.com/services/hht/frequently-asked-questions

  Symptoms of HHT may include: […] Nosebleeds. […] Red spots on your skin most often on your fingers, hands, and face. […] Shortness of breath, from either anemia or vascular malformations in the lung or liver. […] In general, the following outlines the percentage of people with HHT who have complications. […] 90-95% Telangiectases […] 90-95% Nosebleeds […] 30-40% Lung arteriovenous malformations (AVMs) […] 20-25% Bleeding in the GI tract […] 5-20% Brain AVMs […] 10% Symptomatic liver AVMs […] 1% Spinal AVMs.

• #14 Hereditary Hemorrhagic Telangiectasia | HHT Diagnosis, Symptoms

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

  Similar to other vascular malformations, HHT lesions will worsen over a lifetime. […] Pulmonary AVMs Up to 50% of patients may have a pulmonary AVM. In type 1 HHT, the risk increases to 85%. Pulmonary AVMs have abnormal vasculature with a direct connection between high flow arteries and veins. Thus, emboli (small particles) may form and then dislodge into the brain causing brain abscess or stroke. This can be fatal. […] Brain AVMs pose a risk of bleeding. Brain MRI is used to rule out the presence of an AVM. If positive, an angiogram will show the architecture of the AVM. Although the risk of bleeding is low, any bleed may be catastrophic. Spinal AVMs also pose a risk of bleeding and may cause stroke or other functional deficits.

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

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

  Patients with HHT vary in disease severity and bleeding complications. This variability is likely attributed to other genes, inflammation, and the environment that modify the primary genetic defect. Common AVM complications include epistaxis, GI bleeding, iron deficiency, iron deficiency anemia, ischemic and hemorrhagic stroke, brain abscess, high output heart failure, and liver failure. […] Epistaxis will manifest in approximately 50% of patients by the age of ten years. This increases with age such that 95% of all HHT patients eventually develop recurrent epistaxis. This will become evident in adulthood with consequent iron deficiency anemia. […] When significant, gastrointestinal bleeding affects approximately 20% of patients. GI telangiectasias and AVMs can involve the large and small intestines as well as the stomach.

• #15 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. Patients with HHT may have telangiectasias and arteriovenous malformations in various organs and suffer from many complications including bleeding, anemia, iron deficiency, and high-output heart failure. […] Clinical sequelae of HHT include mucocutaneous telangiectasias, arteriovenous malformations (AVMs), and bleeding, with consequent iron deficiency anemia. […] Iron deficiency and associated anemia are frequent complications of the disease due to recurrent epistaxis and/or gastrointestinal bleeding. […] Patients may relate a history of epistaxis in childhood, often apparent during adolescence. Mild epistaxis or bleeding tendencies increase with age and telangiectasias may be seen after adolescence, often in adulthood. Clinical signs of bleeding become more apparent in adulthood, often after the age of 40 years. Symptoms from anemia may be an initial complaint at presentation from gastrointestinal bleeding, seen in approximately one-third of patients.

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

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

  Central nervous system manifestations may affect up to 10% of patients with HHT. Cerebral AVMs can be symptomatic and multiple in number, and are often present at birth. Neurological involvement may result in epilepsy, transient ischemic attack, stroke, or spinal hemorrhage. […] Iron deficiency/iron deficiency anemia is common in HHT. The underlying cause of iron deficiency in this patient population is the chronic blood loss from telangiectasias (e.g. nasal mucosa or intestinal tract) leading to iron store depletion. Approximately 5% of patients with HHT may have severe hemorrhages from epistaxis and/or intestinal AVMs. This consequently leads to a microcytic or normocytic anemia and symptoms of fatigue. […] High-output heart failure can manifest due to large pulmonary AVMs and/or hepatic AVMs. High-output failure can be defined by: 1) symptoms of heart failure (such as shortness of breath, fatigue, and exercise intolerance); 2) cardiac output 8 L/min or cardiac index 3.9 L/min/m2; and 3) ejection fraction (EF) 50% and venous oxygen saturation 75%.

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

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

  In the GI tract, abnormalities are present in 11-40%. There may be telangiectasia and AVMs causing acute haemorrhage or chronic slow bleeding with resulting iron-deficiency anaemia. In one series, 33% had a history of haematemesis or melaena. In the respiratory system, AVMs occur in 30-50% of people with HHT. These pulmonary AVMs are direct communications between the pulmonary arteries and pulmonary veins without an interposed capillary bed. These may present as dyspnoea, cyanosis, bruits, high-output heart failure, clubbing and paradoxical cerebral emboli that may cause stroke and cerebral abscess. They can also lead to haemoptysis and haemothorax. In the liver, AVMs can cause high-output cardiac failure or cirrhosis due to hepatic vascular abnormalities, fibrosis, and portacaval shunts. In one series, patients with HHT were investigated using CT scanning. 74% had vascular abnormalities but only 8% were symptomatic. In the central nervous system, AVMs, cavernous angiomas and aneurysm may result in headache, seizures or epilepsy, intracranial haemorrhage and stroke.

• #17 Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/h/hereditary-hemorrhagic-telangiectasia-osler-weber-rendu-syndrome.html

  Hereditary hemorrhagic telangiectasia occurs when the arteries are directly connected to the veins, meaning that blood flows at high pressure into the veins, which are less flexible than the other blood vessels. This can result in the veins bursting (hemorrhage). When this happens near the surface of the skin, small red marks (telangiectases) appear on the skin. […] Symptoms of hereditary hemorrhagic telangiectasia vary depending on the severity of the condition and the location of the affected blood vessels. Red lines or patterns on the skin (telangiectasia) and nosebleeds are the most common symptoms. The bleeding associated with the condition usually becomes more severe as the patient ages. […] If the digestive tract is affected, the disease is usually not detected until the patient is in their 40s. Symptoms associated with the condition in the digestive tract often go unnoticed, but in rare cases, patients may experience blood in the stool or vomit. […] Due to repeated blood loss, patients with the condition also tend to have a shortage of red blood cells (anemia), which can cause fatigue, weakness and pale skin.

• #18 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. […] 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: […] To help prevent HHT nosebleeds, you may want to:

• #19

• #19 Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management

  https://www.mdpi.com/2077-0383/11/17/5245

  Telangiectases are lesions formed from malformation of small arterioles and venules within the capillary beds and expresses as pinpoint to pinched-sized lesions. They have been described primarily on the lips, tongue, face, fingers, and in the gastrointestinal tract, and oral and nasal mucosa. They are more prevalent on adults as they appear with age with only 30% appearing before the age of 20 years. As they are very fragile, telangiectasias are prone to bleed and limit the quality of living of patients. […] Iron deficiency anemia is a very prevalent finding given recurrent nosebleeds. The mean age of onset of these is estimated to be around 12 years and they increase with age. Anemia and epistaxis are the principal symptoms that impact the quality of life, even causing dyspnea and palpitations depending on their severity. Maintaining hemoglobin levels above 8–9 g/dL by red blood cell transfusions can be considered to avoid low oxygen supply to peripheral tissues in patients with very symptomatic HHT (chronic uncontrolled bleeding), comorbidities (heart failure, hypoxaemia from pulmonary AVM), and urgent situations (such as surgery or pregnancy).

• #20 Hereditary Hemorrhagic Telangiectasia | AAFP

  https://www.aafp.org/pubs/afp/issues/2010/1001/p797.html

  Hereditary hemorrhagic telangiectasia (HHT; HEM-or-RAJ-ick tell-AN-jee-eck-TAY-zhuh) is a genetic disorder of the blood vessels. It is also called Osler-Weber-Rendu disease. People with HHT have abnormal blood vessels that tend to burst open and bleed. […] HHT is diagnosed based on the signs and symptoms caused by abnormal vessels. These vessels have a greater chance of rupturing and bleeding compared with normal blood vessels. They can occur in the nose, skin, gastrointestinal tract, lungs, and brain. […] About nine out of 10 people with HHT have nosebleeds that keep coming back. These can happen every day or only once in a while. The bleeding may be light or heavy. […] Abnormal vessels in the stomach or intestines can cause black or bloody stools or anemia. In the lungs, they can cause shortness of breath and possibly strokes if they become large. There is a higher risk of bleeding during pregnancy. In the brain, abnormal vessels can be dangerous if they bleed. […] No one with HHT has all of the signs and symptoms. Most symptoms vary, even within a family. A parent may have bad nosebleeds, but no abnormal vessels in an internal organ. Yet, his or her child may have a nosebleed only rarely but abnormal vessels in one or more internal organs.

• #21 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). Nosebleeds are very common in people with hereditary hemorrhagic telangiectasia, and more serious problems may arise from hemorrhages in the brain, liver, lungs, or other organs. […] There are several forms of hereditary hemorrhagic telangiectasia, distinguished mainly by their genetic cause but with some differences in patterns of signs and symptoms. People with type 1 tend to develop symptoms earlier than those with type 2, and are more likely to have blood vessel malformations in the lungs and brain. Type 2 and type 3 may be associated with a higher risk of liver involvement. […] Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems.

• #22

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

  Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. Patients with HHT may have telangiectasias and arteriovenous malformations in various organs and suffer from many complications including bleeding, anemia, iron deficiency, and high-output heart failure. Clinical sequelae of HHT include mucocutaneous telangiectasias, arteriovenous malformations (AVMs), and bleeding, with consequent iron deficiency anemia. Iron deficiency and associated anemia are frequent complications of the disease due to recurrent epistaxis and/or gastrointestinal bleeding. Patients may relate a history of epistaxis in childhood, often apparent during adolescence. Mild epistaxis or bleeding tendencies increase with age and telangiectasias may be seen after adolescence, often in adulthood. Clinical signs of bleeding become more apparent in adulthood, often after the age of 40 years. Symptoms from anemia may be an initial complaint at presentation from gastrointestinal bleeding, seen in approximately one-third of patients. Patients with mutations of ACVRL1 may present later in life, while those with MADH4 mutations may present earlier in childhood with juvenile colonic polyps and early onset colorectal cancer (at a mean age of 28 years). Patients with HHT vary in disease severity and bleeding complications. This variability is likely attributed to other genes, inflammation, and the environment that modify the primary genetic defect. Common AVM complications include epistaxis, GI bleeding, iron deficiency, iron deficiency anemia, ischemic and hemorrhagic stroke, brain abscess, high output heart failure, and liver failure. Epistaxis will manifest in approximately 50% of patients by the age of ten years. This increases with age such that 95% of all HHT patients eventually develop recurrent epistaxis. When significant, gastrointestinal bleeding affects approximately 20% of patients. Central nervous system manifestations may affect up to 10% of patients with HHT. Cerebral AVMs can be symptomatic and multiple in number, and are often present at birth. Neurological involvement may result in epilepsy, transient ischemic attack, stroke, or spinal hemorrhage. Iron deficiency/iron deficiency anemia is common in HHT. The underlying cause of iron deficiency in this patient population is the chronic blood loss from telangiectasias (e.g. nasal mucosa or intestinal tract) leading to iron store depletion. Approximately 5% of patients with HHT may have severe hemorrhages from epistaxis and/or intestinal AVMs.

• #23 Orphanet: Hereditary hemorrhagic telangiectasia

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

  Hepatic AVMs, which can remain latent for a long time, in a limited proportion of patients become severe leading to high-output cardiac failure, portal hypertension, pulmonary hypertension or ischemic cholangitis. […] Hemorrhagic digestive telangiectases increase with age and can worsen chronic anemia. […] 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. […] Pregnancy-related death has been reported, and is a particular risk for women with pulmonary arteriovenous malformations.

• #24 Ocular Manifestations of Hereditary Hemorrhagic Telangiectasia – EyeWiki

  https://eyewiki.org/Ocular_Manifestations_of_Hereditary_Hemorrhagic_Telangiectasia

  Reflexive sympathetic response triggers tachycardia and increased cardiac output, leading to heart failure over time. […] Gastrointestinal bleeding may occur due to intestine and stomach involvement. […] Central nervous system involvement is common, and complications of cerebral AVMs include aneurysm, transient ischemic attack, embolic and hemorrhagic stroke, and epilepsy. […] Spinal cord involvement is much rarer, but can cause hemorrhage and paralysis. […] Telangiectasias of the eye are common findings in patients with HHT. […] Conjunctival telangiectasias are frequently observed as the main ophthalmic presentation in up to half of patients, while retinal telangiectasias are observed less frequently (in approximately 2-10% of patients). […] Close examination is important in identifying and monitoring these vessels, as retinal hemorrhage may occur.

• #25 Predictors of mortality in patients with hereditary hemorrhagic telangiectasia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01579-2

  Retrospective questionnaire and healthcare administrative data suggest reduced life expectancy in untreated hereditary hemorrhagic telangiectasia (HHT). […] A history of anemia was associated with increased mortality (HR=2.93, 95% CI 1.376.26, p=0.006), as were gastro-intestinal (GI) bleeding (HR=2.63, 95% CI 1.464.74, p=0.001), and symptomatic liver VMs (HR=2.10, 95% CI 1.153.84, p=0.015). […] Chronic GI bleeding, anemia and symptomatic liver VMs are associated with increased mortality in HHT patients, independent of age, and in keeping with the limited treatment options for these aspects of HHT. […] This demonstrates the need for development of new therapies to treat chronic anemia, GI bleeding, and symptomatic liver VMs in order to reduce mortality among HHT patients. […] Mortality and its predictors remain poorly understood in HHT to date.

• #25 Predictors of mortality in patients with hereditary hemorrhagic telangiectasia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01579-2

  We aimed to measure predictors of mortality among centre-treated HHT patients. […] GI bleeding was associated with increased mortality (HR=2.63, 95% CI 1.464.74, p=0.001), as were symptomatic liver VMs (HR=2.10, 95% CI 1.153.84, p=0.015). […] The morbidity and mortality associated with HHT-related GI bleeding suggests an urgent need for the development of new therapies for GI bleeding and anemia. […] Given the demonstrated morbidity and mortality associated with liver VMs, once again there is an urgent need for new therapies. […] We observed that SMAD4 mutation is associated with higher mortality compared to ACVRL1 or ENG mutation in the univariate and imputed data models. […] The findings of this study should be considered in light of some potential limitations. […] However, despite this limitation, we detected significant associations for liver VMs, GI bleeding and anemia, supporting the significance of these results. […] Chronic GI bleeding, anemia, and symptomatic liver VMs are associated with increased mortality in HHT patients, independent of age, and in keeping with the limited treatment options available for these aspects of HHT.

• #26 Hereditary Hemorrhagic Telangiectasia (HHT) (Osler-Weber-Rendu) – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/hereditary-hemorrhagic-telangiectasia-hht-osler-weber-rendu/

  Moreover, patients may also develop Arteriovenous Malformations (AVMs), which are abnormal connections between arteries and veins, in the lungs, gastrointestinal tract, brain, liver, or spine. Symptoms and complications related to these AVMs should be evaluated. These might include stroke, heart failure, blood clot, iron deficiency, brain abscess, liver disease, migraines, and high blood pressure in the lungs. Additionally, patients with a certain form of HHT are at higher risk of developing colon cancer. […] Diagnosis of HHT includes looking for four key features: frequent nosebleeds, family history, reddish spots on skin or mucous membranes, and Arteriovenous Malformations. A confirmed diagnosis is made if patients have at least three of these criteria. […] The research on the overall survival rates and prognosis for patients with Hereditary Hemorrhagic Telangiectasia (HHT), a genetic disorder that affects blood vessels, is not extensive. However, it suggests that these patients may have a shorter life expectancy. One study found the median age of death for patients with HHT to be 63.2, compared to 70.0 years for those without the condition.

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

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

  Because this condition doesn’t cause any warning symptoms and leaves people vulnerable to stroke and life-threatening infections, proper diagnosis, treatment, and monitoring is important. […] Early diagnosis, treatment, and follow up can help people avoid these complications. […] 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.

• #28 Hereditary Hemorrhagic Telangiectasia (HHT) – with Dr. Raj Kasthuri | Department of Medicine

  https://www.med.unc.edu/medicine/news/chairs-corner/podcast/hht-kasthuri/

  Only about two out of ten people with HHT know what they have. The cardinal symptom of HHT is nosebleeds. The nosebleeds are a result of these abnormal blood vessels that develop. The tricky part of HHT is, even though it is inherited, it tends to show itself with age. It tends to have an age-dependent expression, so it can be very tricky making the diagnosis in children. They tend to develop over time, and the average age of onset of nosebleeds is estimated to be somewhere in the mid-teens around the ages of fourteen, fifteen. If you take a fourteen-year-old, and they develop nosebleeds, the first five things that come to mind are probably not an inherited genetic disorder. So, it is not until later on in life when the bleeding gets more severe, and they start to develop these abnormal blood vessels more obviously, over their skin and their hands, the fingertips, around the nails, around the lips, that people start to think about HHT. The internal organ involvement with HHT is very similar to what happens over the skin, which is patients develop abnormal blood vessels. When these develop in internal organs, we call them arteriovenous malformations, or AVMs. Everything that happens in the lung with HHT is because of these AVMs. What happens when blood passes through an AVM is because these are dilated blood vessels—they do poorly at exchanging oxygen and carbon dioxide. So, any blood that passes through an AVM leaves the lung with carbon dioxide and not oxygen. Stroke—hemorrhagic stroke is the dreaded complication from these brain AVMs. There are a number of treatments, but no cure as yet. The way we treat HHT is to treat the symptoms related to the disorder—nosebleeds being the most common. In addition to treating the nosebleeds and the related complication from nosebleeds—which is anemia—up to fifty percent of people with HHT will develop iron deficiency anemia because of that, because it is ongoing bleeding. We believe if all of the symptoms are treated and the AVMs are screened for, and fixed appropriately, a person with HHT should have a lifetime that is not much different from anybody else. If that is not done, then complications from these AVMs, or severe persistent anemia, could affect the life expectancy of a patient with HHT.

• #29 Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia) Clinical Presentation: History, Physical Examination, Complications

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

  Telangiectases of the skin and mucous membranes, epistaxis, and a positive family history make up the classic triad of Osler-Weber-Rendu disease (OWRD; ie, hereditary hemorrhagic telangiectasia [HHT]). Visceral and central nervous system (CNS) involvement may be asymptomatic but is important because of associated complications that may be preventable. The estimated frequency of manifestations in patients with HHT is as follows: Spontaneous, recurrent epistaxis – 90% […] A known progression in the onset of symptoms over time begins with epistaxis, continues with pulmonary AVMs, and then proceeds to cutaneous and mucous telangiectases. […] Patients with epistaxis usually present before the second decade of life. Blood transfusions are required in 10-30% of patients, and as many as 50% of patients require surgical treatment.

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