Materiały źródłowe

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

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

  Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. […] 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. […] Identification of a heterozygous pathogenic variant in ACVRL1, ENG, or SMAD4 establishes the diagnosis if clinical features are inconclusive. […] According to published consensus clinical diagnostic criteria, the diagnosis of HHT is considered „definite” in an individual with three or more of the following suggestive findings. The diagnosis of HHT is considered „possible or suspected” in an individual with two of the following suggestive findings.

• #2 Diagnosis – Hereditary Hemorrhagic Telangiectasia | UCLA Health

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

  Our team offers specialized, coordinated care. Call 310-481-7545 to learn more about hereditary hemorrhagic telangiectasia diagnosis and treatment. […] The Curacao criteria, published in 2000, remain the mainstay of HHT clinical diagnosis: […] Definite HHT = 3 or 4 criteria Possible HHT = 2 criteria Unlikely HHT = 0 or 1 criteria […] Genetic testing for endoglin, ALK1/ACVRL1 and Smad4 is available and can confirm the diagnosis in about 80% of cases. […] Genetic testing is most helpful in the settings of […] Clinical work-up begins with a clinical evaluation at an HHT center of excellence, such as UCLA.

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

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

  The Curaao criteria were developed in 1999 for the diagnosis of HHT. […] Genetic testing can be performed, but not every genetic mutation for HHT has been identified; therefore, some cases of HHT cannot be detected with current laboratory testing. […] Children of a parent with HHT who do not meet the criteria for a diagnosis of HHT should be considered to have the disease, unless excluded by genetic testing, for purposes of screening.

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

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

  Osler-Weber-Rendu disease (OWRD) is a rare autosomal dominant disorder that affects blood vessels throughout the body (causing vascular dysplasia) and results in a tendency for bleeding. (The condition is also known as hereditary hemorrhagic telangiectasia [HHT]; the two terms are used interchangeably in this article.) The diagnosis of HHT is made clinically on the basis of the Curaao criteria, established in June 1999 by the Scientific Advisory Board of the HHT Foundation International, Inc. The four clinical diagnostic criteria are as follows: Epistaxis, Telangiectasias, Visceral lesions, Family history (a first-degree relative with HHT). The HHT diagnosis is classified as definite if three or four criteria are present, possible or suspected if two criteria are present, and unlikely if fewer than two criteria are present. 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).

• #5 Diagnostic Criteria for HHT – CureHHT

  https://curehht.org/understanding-hht/diagnosis-treatment/diagnostic-criteria-hht/

  For a diagnosis of HHT, physicians should use ICD-10 Code i78.0 (previously ICD-9 Code 448.0) […] HHT is under-diagnosed: Only 10% of affected individuals have the diagnosis of HHT. […] Quick diagnosis of HHT allows the individual with HHT and their family members receive screening and treatment before complications happen. Diagnosis is typically confirmed with clinical features in people with symptoms, OR with genetic testing in family members who do not have symptoms. […] If a doctor determines that at least three of these criteria are met, it is considered to be definite HHT. If two of the criteria are met, it is considered possible HHT. If less than two of these criteria apply, it is unlikely to be HHT. […] The criteria spell out in detail what is required for each manifestation for it to be considered HHT.

• #6 Diagnosing Hereditary Hemorrhagic Telangiectasia (HHT)

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

  Our doctors at the HHT Center use the Curaao criteria to diagnose HHT. […] The four criteria are: Recurrent nosebleeds, also known as epistaxis. […] If you meet 0-1 criteria, you are unlikely to have HHT. […] If you meet 2-3 criteria, there is a chance that you have HHT. […] If you meet 3-4 criteria, you are very likely to have HHT. […] At your first visit to the HHT Center, your doctor may not know if you have internal AVMs. […] If your doctor suspects HHT, he or she will likely order noninvasive diagnostic tests such as: MRI, CT scan, Echocardiogram. […] These tests will tell if you have brain or lung AVMs. […] Your doctor may also suggest genetic testing to find out if you have a mutation in one of the following genes: Endoglin (ENG), Activin receptor type II-like kinase 1 (ACVRL1), SMAD4. […] We highly recommend a clinical or genetic diagnosis for all related family members. An early diagnosis, follow-up care, and long-term monitoring can help prevent the complications of HHT.

• #7 Invitae Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel | Test catalog | Invitae

  https://www.invitae.com/us/providers/test-catalog/test-02352

  This test analyzes genes associated with hereditary hemorrhagic telangiectasia (HHT) and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. […] Individuals with clinical symptoms of HHT or CM-AVM syndrome may benefit from diagnostic genetic testing to establish or confirm a diagnosis, clarify risks, or inform management. Early diagnosis and treatment may help avoid secondary complications and adverse outcomes. […] Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS). […] Based on validation study results, this assay achieves 99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions 15bp in length, and exon-level deletions and duplications.

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

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

  The appearance of telangiectases at characteristic sites (lips, oral cavity, hands, and nasal septum) is key. […] Most individuals with a PAVM(s) have HHT. […] Molecular genetic testing of ENG, ALK1, and SMAD4 detects mutations in approximately 85% of individuals who meet established clinical diagnostic criteria of HHT. […] A negative deletion/duplication assay is often helpful in interpreting the sequencing results, in addition to the increased detection it provides. […] The percentage of mutations in ENG and ACVRL1 is virtually equal (53% and 47%, respectively) after founder effects are excluded. […] Sequence analysis of ENG, ACVRL1, and SMAD4 identifies mutations in approximately 75% of individuals with HHT. […] Testing relatives at risk should be offered to at-risk, but not clearly affected, relatives if the disease-causing mutation in the family is known, so that morbidity and mortality can be reduced by early diagnosis and treatment.

• #9 HHTGG – Overview: Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Gene Panel, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/617295

  Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for HHT, CCM, CM-AVM, and other hereditary vascular malformation syndromes of germline origin. […] Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant vascular dysplasia characterized by the presence of arteriovenous malformations (AVM) of the skin, mucosa, and viscera. […] HHT has an estimated prevalence of 1:5000 and is primarily caused by heterozygous, disease-causing variants in the ACVRL1 and ENG genes. […] Familial cerebral cavernous malformation (CCM) is an autosomal dominant condition characterized by structurally abnormal capillaries in the central nervous system leading to an increased risk of cerebral hemorrhage.

• #10 HHTNext by Ambry Genetics| Genetic test for Hereditary hemorrhagic telangiectasia | Ambry Genetics

  https://www.ambrygen.com/providers/genetic-testing/67/exome-and-general-genetics/hhtnext

  Hereditary hemorrhagic telangiectasia is characterized by the presence of arteriovenous malformations (AVMs), spontaneous and recurrent nosebleeds (epistaxis), and telangiectases. The age of onset and severity of symptoms vary widely and recurrent epistaxis is the most common first symptom beginning in early adolescence. […] Knowing if your patient has a hereditary hemorrhagic telangiectasia can help you determine future risks and guide your medical management recommendations. […] If you have been clinically diagnosed with possible HHT according to the Curacao diagnostic criteria, genetic testing may be done to establish or confirm a diagnosis. […] If you have been clinically diagnosed with definite HHT, genetic testing may be done to identify the affected gene in order to accurately test other family members.

• #11 Diagnostic Criteria for HHT – CureHHT

  https://curehht.org/understanding-hht/diagnosis-treatment/diagnostic-criteria-hht/

  The criteria stresses the importance of taking a detailed and targeted family history in order to establish the diagnosis of this disorder in an individual. […] The criteria emphasizes that all children of an individual with HHT are at risk of having the disease. […] In these cases, a genetic test might help determine if they have HHT: A positive genetic test would confirm that someone does have HHT. A negative test does not rule out HHT. 15% of people with HHT have mutations in genes that are not yet identified HHT genes. Repeat testing in the future would be beneficial in these cases because new HHT causing genes can be discovered.

• #12 HHTNext by Ambry Genetics| Genetic test for Hereditary hemorrhagic telangiectasia | Ambry Genetics

  https://www.ambrygen.com/providers/genetic-testing/67/exome-and-general-genetics/hhtnext

  If you have a direct relative who has been genetically diagnosed, genetic testing would be done to test for the presence or absence of the mutation that was identified in your family member. The presence of the family HHT-causing mutation would prove HHT, while its absence would rule it out. […] The HHTNext test is designed and validated to be capable of detecting 99% of described mutations in the genes represented on the tests (analytical sensitivity). The clinical sensitivity of the HHTNext test may vary widely according to the specific clinical and family history. […] HHTNext is a comprehensive analysis of 6 genes associated with hereditary hemorrhagic telangiectasia.

• #13 Diagnosing Hereditary Hemorrhagic Telangiectasia (HHT)

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

  Our doctors at the HHT Center use the Curaao criteria to diagnose HHT. […] The four criteria are: Recurrent nosebleeds, also known as epistaxis. […] If you meet 0-1 criteria, you are unlikely to have HHT. […] If you meet 2-3 criteria, there is a chance that you have HHT. […] If you meet 3-4 criteria, you are very likely to have HHT. […] At your first visit to the HHT Center, your doctor may not know if you have internal AVMs. […] If your doctor suspects HHT, he or she will likely order noninvasive diagnostic tests such as: MRI, CT scan, Echocardiogram. […] These tests will tell if you have brain or lung AVMs. […] Your doctor may also suggest genetic testing to find out if you have a mutation in one of the following genes: Endoglin (ENG), Activin receptor type II-like kinase 1 (ACVRL1), SMAD4. […] We highly recommend a clinical or genetic diagnosis for all related family members. An early diagnosis, follow-up care, and long-term monitoring can help prevent the complications of HHT.

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

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

  To diagnose HHT you will need to have a complete history and exam by a doctor who has knowledge about HHT. […] At the HHT Center of Excellence of UPMC and the University of Pittsburgh, we use the Curacao criteria to assess your likelihood of having the disease. […] If you meet two or more criteria, we may advise genetic testing to see if you have a mutation in one of the HHT disease genes. […] Genetic testing isn’t perfect because there may be undiscovered genes that cause HHT. Between 10 and 15 percent of people with HHT can have negative genetic test results. […] We isolate the genetic material (DNA) from the blood and send the sample to a specialized lab for analysis. […] The lab will study the genes that cause HHT endoglin, ACVRL-1, or SMAD-4 for abnormalities (called mutations).

• #15 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. […] Having genetic testing for HHT may confirm the diagnosis. […] One or more of the following imaging tests can help find AVMs: […] These can confirm AVMs in the lungs, the liver and other organs in the belly. […] 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. […] Procedures to treat AVMs in these organs may include: […] This shrinks and heals the AVM over time. […] Rarely, treatment for AVMs in the liver is a liver transplant.

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

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

  Hereditary hemorrhagic telangiectasia is a clinical diagnosis that is based on the presence of three of four criteria (i.e., epistaxis, telangiectasias, visceral arteriovenous malformations, or family history of the disease). […] 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. […] HHT can be diagnosed using the Curaao criteria or by identifying a causative mutation. […] Screening should include contrast echocardiography and MRI of the brain. […] Transthoracic contrast echocardiography should be used as the initial screening test for pulmonary AVMs in patients with HHT. […] Adults with possible or confirmed HHT should receive an 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.

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

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

  Hereditary hemorrhagic telangiectasia is a clinical diagnosis that is based on the presence of three of four criteria (i.e., epistaxis, telangiectasias, visceral arteriovenous malformations, or family history of the disease). […] 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. […] HHT can be diagnosed using the Curaao criteria or by identifying a causative mutation. […] Screening should include contrast echocardiography and MRI of the brain. […] Transthoracic contrast echocardiography should be used as the initial screening test for pulmonary AVMs in patients with HHT. […] Adults with possible or confirmed HHT should receive an 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.

• #18 Diagnosing Hereditary Hemorrhagic Telangiectasia (HHT)

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

  Our doctors at the HHT Center use the Curaao criteria to diagnose HHT. […] The four criteria are: Recurrent nosebleeds, also known as epistaxis. […] If you meet 0-1 criteria, you are unlikely to have HHT. […] If you meet 2-3 criteria, there is a chance that you have HHT. […] If you meet 3-4 criteria, you are very likely to have HHT. […] At your first visit to the HHT Center, your doctor may not know if you have internal AVMs. […] If your doctor suspects HHT, he or she will likely order noninvasive diagnostic tests such as: MRI, CT scan, Echocardiogram. […] These tests will tell if you have brain or lung AVMs. […] Your doctor may also suggest genetic testing to find out if you have a mutation in one of the following genes: Endoglin (ENG), Activin receptor type II-like kinase 1 (ACVRL1), SMAD4. […] We highly recommend a clinical or genetic diagnosis for all related family members. An early diagnosis, follow-up care, and long-term monitoring can help prevent the complications of HHT.

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

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

  Hereditary hemorrhagic telangiectasia is a clinical diagnosis that is based on the presence of three of four criteria (i.e., epistaxis, telangiectasias, visceral arteriovenous malformations, or family history of the disease). […] 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. […] HHT can be diagnosed using the Curaao criteria or by identifying a causative mutation. […] Screening should include contrast echocardiography and MRI of the brain. […] Transthoracic contrast echocardiography should be used as the initial screening test for pulmonary AVMs in patients with HHT. […] Adults with possible or confirmed HHT should receive an 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.

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

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

  Hereditary hemorrhagic telangiectasia is a clinical diagnosis that is based on the presence of three of four criteria (i.e., epistaxis, telangiectasias, visceral arteriovenous malformations, or family history of the disease). […] 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. […] HHT can be diagnosed using the Curaao criteria or by identifying a causative mutation. […] Screening should include contrast echocardiography and MRI of the brain. […] Transthoracic contrast echocardiography should be used as the initial screening test for pulmonary AVMs in patients with HHT. […] Adults with possible or confirmed HHT should receive an 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.

• #21 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. […] At the University of Chicago Medicine, we take an integrated, multidisciplinary approach to the diagnosis, evaluation and treatment of individuals with HHT. […] An individual is considered to have HHT if three of the four following conditions are met: Family history, including a first degree relative with HHT; Small dilated blood vessels (telangiectasia) at characteristic sites: lips, mouth, finger and nose; Spontaneous, recurrent nose bleeds (epistaxis); Telangiectasia in the gastrointestinal tract and/or larger AVMs in the lungs, liver or brain. […] If two of the four above conditions are met, then HHT is considered a possible diagnosis. The following diagnostic tests may be used to confirm HHT: Advanced MRI and CT imaging; Cerebral angiography; Doppler ultrasound; Genetic testing; Liver biopsy; Pulmonary angiography.

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

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

  The types of tests that are needed for Hereditary Hemorrhagic Telangiectasia (HHT) include: – Genetic mutation testing to look for changes in the ENG, ACVRL1, and SMAD4 genes – Chest CT scan and echocardiogram to screen for lung arteriovenous malformations (AVMs) – MRI scan of the brain to check for brain AVMs – Endoscopy and capsule endoscopy to examine the gastrointestinal tract – Doppler ultrasound, CT scan, or MRI scan to check for liver AVMs – Blood tests, such as complete blood count and blood type test, before surgical procedures – Screening for AVMs in the lungs and spine for pregnant women with HHT.

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

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

  The types of tests that are needed for Hereditary Hemorrhagic Telangiectasia (HHT) include: – Genetic mutation testing to look for changes in the ENG, ACVRL1, and SMAD4 genes – Chest CT scan and echocardiogram to screen for lung arteriovenous malformations (AVMs) – MRI scan of the brain to check for brain AVMs – Endoscopy and capsule endoscopy to examine the gastrointestinal tract – Doppler ultrasound, CT scan, or MRI scan to check for liver AVMs – Blood tests, such as complete blood count and blood type test, before surgical procedures – Screening for AVMs in the lungs and spine for pregnant women with HHT.

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

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

  The types of tests that are needed for Hereditary Hemorrhagic Telangiectasia (HHT) include: – Genetic mutation testing to look for changes in the ENG, ACVRL1, and SMAD4 genes – Chest CT scan and echocardiogram to screen for lung arteriovenous malformations (AVMs) – MRI scan of the brain to check for brain AVMs – Endoscopy and capsule endoscopy to examine the gastrointestinal tract – Doppler ultrasound, CT scan, or MRI scan to check for liver AVMs – Blood tests, such as complete blood count and blood type test, before surgical procedures – Screening for AVMs in the lungs and spine for pregnant women with HHT.

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

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

  The types of tests that are needed for Hereditary Hemorrhagic Telangiectasia (HHT) include: – Genetic mutation testing to look for changes in the ENG, ACVRL1, and SMAD4 genes – Chest CT scan and echocardiogram to screen for lung arteriovenous malformations (AVMs) – MRI scan of the brain to check for brain AVMs – Endoscopy and capsule endoscopy to examine the gastrointestinal tract – Doppler ultrasound, CT scan, or MRI scan to check for liver AVMs – Blood tests, such as complete blood count and blood type test, before surgical procedures – Screening for AVMs in the lungs and spine for pregnant women with HHT.

• #26 Compva: Differential diagnosis — HHT · Osler’s disease

  https://www.compva.com/science/differential-diagnosis-hht-oslers-disease

  The differential diagnosis of hereditary hemorrhagic telangiectasia (HHT) is typically not broad. Clinical findings and history are all-important. […] In cases of doubt, human genetic/molecular genetic testing can provide more clarity.

• #27 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. […] Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that affects your blood vessels. […] We provide the full array of screening tools, counseling services and treatment options. […] We use established standards for diagnosing HHT, including the Curacao criteria and genetic testing. Our specialists may suspect or offer a likely diagnosis of HHT based on symptoms and family history. When needed, we can refer patients for genetic testing to confirm a diagnosis. Family members may also benefit from a genetic test to look for the specific gene mutation causing HHT. […] Our team offers specialized, coordinated care. Call 310-481-7545 to learn more about hereditary hemorrhagic telangiectasia diagnosis and treatment.

• #28 480074: Hereditary Hemorrhagic Telangiectasia (HHT), Proband | Labcorp

  https://www.labcorp.com/tests/480074/hereditary-hemorrhagic-telangiectasia-hht-proband

  Test Details: Methodology: Full gene sequencing and quantitative multiplex polymerase chain reaction (QM-PCR) to screen for copy number changes […] Use: Analysis used for individuals affected clinically with HHT, usually the first person in the family to have genetic testing […] Limitations: This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

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

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

  Diagnosing HHT is important so we can ease your child’s symptoms and avoid serious problems. […] Since HHT is caused by an abnormal gene, we use genetic testing to diagnose it. Seattle Childrens is 1 of only a few centers in the United States that does genetic testing for HHT. […] To decide if your child should have genetic testing for HHT, the doctor will ask about their medical history and family history, do a physical exam, and review any past imaging studies or take pictures inside your child’s body using MRI (magnetic resonance imaging), CT (computed tomography) or ultrasound. […] A diagnosis of HHT may affect the whole family. We will talk with you about testing for other family members. Unless HHT is ruled out by genetic testing, all children of a parent with HHT should be screened for brain and lung AVMs.

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

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

  The Curaao criteria were developed in 1999 for the diagnosis of HHT. […] Genetic testing can be performed, but not every genetic mutation for HHT has been identified; therefore, some cases of HHT cannot be detected with current laboratory testing. […] Children of a parent with HHT who do not meet the criteria for a diagnosis of HHT should be considered to have the disease, unless excluded by genetic testing, for purposes of screening.

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

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

  Diagnosing HHT is important so we can ease your child’s symptoms and avoid serious problems. […] Since HHT is caused by an abnormal gene, we use genetic testing to diagnose it. Seattle Childrens is 1 of only a few centers in the United States that does genetic testing for HHT. […] To decide if your child should have genetic testing for HHT, the doctor will ask about their medical history and family history, do a physical exam, and review any past imaging studies or take pictures inside your child’s body using MRI (magnetic resonance imaging), CT (computed tomography) or ultrasound. […] A diagnosis of HHT may affect the whole family. We will talk with you about testing for other family members. Unless HHT is ruled out by genetic testing, all children of a parent with HHT should be screened for brain and lung AVMs.

• #32 A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-33

  The difficulty in establishing a timely correct diagnosis is a relevant matter of concern for several rare diseases. Many rare-disease-affected patients suffer from considerable diagnostic delay, mainly due to their poor knowledge among healthcare professionals, insufficient disease awareness among patients families, and lack of promptly available diagnostic tools. Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal-dominantly inherited vascular dysplasia, affecting 1:5,000-10,000 patients. HHT is characterized by high variability of clinical manifestations, which show remarkable overlapping with several common diseases. […] Our data report for the first time a systematic inquiry of diagnostic delay in HHT showing that patients receive a definite diagnosis only after nearly three decades from disease onset. Concerted efforts are still to be made to increase awareness of this disease among both families and physicians.

• #33 Diagnostic Criteria for HHT – CureHHT

  https://curehht.org/understanding-hht/diagnosis-treatment/diagnostic-criteria-hht/

  For a diagnosis of HHT, physicians should use ICD-10 Code i78.0 (previously ICD-9 Code 448.0) […] HHT is under-diagnosed: Only 10% of affected individuals have the diagnosis of HHT. […] Quick diagnosis of HHT allows the individual with HHT and their family members receive screening and treatment before complications happen. Diagnosis is typically confirmed with clinical features in people with symptoms, OR with genetic testing in family members who do not have symptoms. […] If a doctor determines that at least three of these criteria are met, it is considered to be definite HHT. If two of the criteria are met, it is considered possible HHT. If less than two of these criteria apply, it is unlikely to be HHT. […] The criteria spell out in detail what is required for each manifestation for it to be considered HHT.

• #34 A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-33

  In the overall group of 233 patients, definite diagnosis of HHT was obtained after a DTL of 25.717.4 years from the onset of HHT manifestations, with a wide range both in index and non-index patients (from within one year to 73 years). […] The main reason accounting for such a long diagnostic time lag most likely lies in the insufficient knowledge of HHT disease by the medical community due to its low prevalence, similar to that of many other rare diseases. […] Patients with HHT experience a very long diagnostic delay before definitely attaining the correct diagnosis. Considerable endeavors are still required to spread awareness of this disease among health care professionals and patients relatives, in order to reduce the inacceptably long time lag associated with HHT diagnosis.

• #35 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. […] Having genetic testing for HHT may confirm the diagnosis. […] One or more of the following imaging tests can help find AVMs: […] These can confirm AVMs in the lungs, the liver and other organs in the belly. […] 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. […] Procedures to treat AVMs in these organs may include: […] This shrinks and heals the AVM over time. […] Rarely, treatment for AVMs in the liver is a liver transplant.

• #36 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. […] Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that affects your blood vessels. […] We provide the full array of screening tools, counseling services and treatment options. […] We use established standards for diagnosing HHT, including the Curacao criteria and genetic testing. Our specialists may suspect or offer a likely diagnosis of HHT based on symptoms and family history. When needed, we can refer patients for genetic testing to confirm a diagnosis. Family members may also benefit from a genetic test to look for the specific gene mutation causing HHT. […] Our team offers specialized, coordinated care. Call 310-481-7545 to learn more about hereditary hemorrhagic telangiectasia diagnosis and treatment.

• #37 HHT Diagnosis

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

  One advantage to choosing Froedtert the Medical College of Wisconsins HHT Program is our state-of-the-art diagnostic and imaging capabilities. […] Genetic testing is a primary tool for confirming HHT and helping to identify those who should receive further screening for arteriovenous malformations (AVMs), abnormalities of blood vessels. […] Other diagnostic tests commonly ordered for HHT patients include: […] Bubble-enhanced echocardiogram, used to find AVMs in the lungs […] Brain MRI scan, used to determine the presence of AVMs in the brain […] CT scans, used to monitor for AVMs in other parts of the body.

• #38 Diagnosing Hereditary Hemorrhagic Telangiectasia (HHT)

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

  Our doctors at the HHT Center use the Curaao criteria to diagnose HHT. […] The four criteria are: Recurrent nosebleeds, also known as epistaxis. […] If you meet 0-1 criteria, you are unlikely to have HHT. […] If you meet 2-3 criteria, there is a chance that you have HHT. […] If you meet 3-4 criteria, you are very likely to have HHT. […] At your first visit to the HHT Center, your doctor may not know if you have internal AVMs. […] If your doctor suspects HHT, he or she will likely order noninvasive diagnostic tests such as: MRI, CT scan, Echocardiogram. […] These tests will tell if you have brain or lung AVMs. […] Your doctor may also suggest genetic testing to find out if you have a mutation in one of the following genes: Endoglin (ENG), Activin receptor type II-like kinase 1 (ACVRL1), SMAD4. […] We highly recommend a clinical or genetic diagnosis for all related family members. An early diagnosis, follow-up care, and long-term monitoring can help prevent the complications of HHT.

• #39 Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1286-z

  In HHT, complications during pregnancy are rare but can be severe. Screening for pulmonary AVMs is recommended in all cases before pregnancy, as well as pulmonary AVM (PAVM) embolotherapy if possible. […] This literature review indicates that HHT pregnancies are likely to present significant maternal and/or foetal risks. One large study reported that the overall maternal death rate was 1.0% of pregnancies based on analysis of retrospective and prospective data. […] Severe maternal complications occurred in 2.7 to 6.8% of pregnancies in the case series and 31 case reports published from 1986 to 2018. This indicates that, in women known to have HHT, and even if the majority of HHT pregnancies are uneventful, specific high-risk pregnancy monitoring is needed. […] Screening and treatment of PAVMs before pregnancy is a priority because these are present in 25 to 50% of HHT women and can lead to haemothorax, which was the most frequent complication in the published case series and case reports.

• #40 Hereditary Hemorrhagic Telangiectasia (HHT) – Rare Disease Diagnostics

  https://diagnostics.protheragen.us/hereditary-hemorrhagic-telangiectasia-hht.html

  Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that affects blood vessels. […] Developing effective in vitro diagnostic (IVD) products for hereditary hemorrhagic telangiectasia (HHT) is crucial for early detection, accurate diagnosis, and personalized therapeutics of this rare genetic disorder. […] The primary development strategies involve gene testing and biomarker identification related to HHT. Currently, there are several HHT diagnostic kits available on the market. […] The kit is crafted for identifying mutations in genes linked to HHT, including ENG and ACVRL1. […] Circulating proteins can serve as valuable biomarkers for HHT disease identification and monitoring. […] We also contribute to the development of circulating protein detection kits to monitor biomarkers of HHT and improve the portability of diagnostics.

• #41 Hereditary Hemorrhagic Telangiectasia (HHT) – Rare Disease Diagnostics

  https://diagnostics.protheragen.us/hereditary-hemorrhagic-telangiectasia-hht.html

  These kits are designed to be used in conjunction with IVD devices to achieve maximum sensitivity, specificity, and detection efficiency, facilitating effective disease management. […] We also provide point-of-care diagnostics and companion diagnostics development services for hereditary hemorrhagic telangiectasia (HHT). These services enable rapid detection of biomarkers associated with HHT, facilitating early diagnosis and personalized therapeutic strategies tailored to affected individuals.

• #42 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

  The diagnosis of HHT is clinical and based on the Curaao criteria. A diagnosis of HHT is definite if three or more criteria are met, possible or suspected if two are present and unlikely if none or one are met. In current practice, genetic testing is offered to identify a causative mutation in a patient with family members with clinically confirmed HHT, as predictive testing in asymptomatic relatives or to establish a diagnosis in those who do not meet the criteria. More than 95% of people with definite HHT carry an identifiable causative mutation. […] One of the most important aspects of HHT care is to screen for potential end-organ involvement. The modality and frequency of screening are based on expert opinion, with recommended screening investigations outlined in the text. […] There are no standard medical therapies for HHT given the few randomised trials in this field. Management can include supportive care, lesion-specific therapy and systemic treatment.

• #43 Hereditary Hemorrhagic Telangiectasia (HHT) Treatment | ColumbiaDoctors

  https://www.columbiadoctors.org/specialties/lung-breathing-disorders/our-services/hereditary-hemorrhagic-telangiectasia-hht/diagnosis-and-treatment-columbia

  Because hereditary hemorrhagic telangiectasia (HHT) can affect many parts of the body, an accurate diagnosis involves several steps. We first want to confirm that you have the disorder and then understand what complications you may be experiencing. […] All of our patients have an initial appointment with the director of our program, Dr. Charles Murphy. At your appointment, Dr. Murphy will review your medical history and conduct a full medical exam. […] We may schedule some tests to confirm your diagnosis and look for arteriovenous malformations (AVMs), which are abnormal connections between arteries and veins that can cause life-threatening complications. […] Depending on whether you have a family history of HHT, there are different methods of diagnosing the disorder: […] If you have a family history of HHT, a DNA test can diagnose the disorder.

• #44 Hereditary Hemorrhagic Telangiectasia (HHT) Treatment | ColumbiaDoctors

  https://www.columbiadoctors.org/specialties/lung-breathing-disorders/our-services/hereditary-hemorrhagic-telangiectasia-hht/diagnosis-and-treatment-columbia

  HHT can also be diagnosed using the Curacao criteria, which involves looking at four things: Nosebleeds, telangiectasias, AVMs of the large organs (brain, liver, and lung), and a history of HHT in a first-degree relative. […] If HHT is suspected or if you have determined that you have HHT through genetic testing we will order imaging tests, which will help locate AVMs and determine the severity of your disease. […] Imaging tests that we use in diagnosis include: […] Depending on your diagnosis, you will be referred to one or more specialists who will develop a treatment plan based on your particular symptoms. […] Because HHT is a hereditary condition, we will also talk to you about having your family members scheduled for genetic counseling and testing, to determine if they also have the genetic mutation that leads to HHT.

• #45

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

  Families are strongly encouraged to arrange genetic testing through a medical geneticist or genetic counselor who understands all of the complexities and limitations of genetic testing for 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.

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