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Hereditary hemorrhagic telangiectasia type 3(HHT3)

MedGen UID:
371403
Concept ID:
C1832774
Disease or Syndrome
Synonyms: HHT3; Osler Weber Rendu syndrome type 3
 
Monarch Initiative: MONDO:0010996
OMIM®: 601101

Disease characteristics

Excerpted from the GeneReview: Hereditary Hemorrhagic Telangiectasia
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 most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years. [from GeneReviews]
Authors:
Jamie McDonald  |  David A Stevenson   view full author information

Additional description

From MedlinePlus Genetics
Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.

In the circulatory system, blood carrying oxygen from the lungs is normally pumped by the heart into the arteries at high pressure. The pressure allows the blood to make its way through the arteries to the smaller vessels (arterioles and capillaries) that supply oxygen to the body's tissues. By the time blood reaches the capillaries, the pressure is much lower. The blood then proceeds from the capillaries into veins, through which it eventually returns to the heart.

In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly into veins rather than into the capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface of the skin, where they are visible as red markings, they are known as telangiectases (the singular is telangiectasia).

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. Women are more likely than men to develop blood vessel malformations in the lungs with type 1, and are also at higher risk of liver involvement with both type 1 and type 2. Individuals with any form of hereditary hemorrhagic telangiectasia, however, can have any of these problems.

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition that involves both arteriovenous malformations and a tendency to develop growths (polyps) in the gastrointestinal tract. Hereditary hemorrhagic telangiectasia types 1, 2 and 3 do not appear to increase the likelihood of such polyps.  https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia

Professional guidelines

PubMed

Pollak M, Gatt D, Shaw M, Hewko SL, Lamanna A, Santos S, Ratjen F
J Pediatr 2023 Dec;263:113665. Epub 2023 Aug 11 doi: 10.1016/j.jpeds.2023.113665. PMID: 37572862
Tunkel DE, Anne S, Payne SC, Ishman SL, Rosenfeld RM, Abramson PJ, Alikhaani JD, Benoit MM, Bercovitz RS, Brown MD, Chernobilsky B, Feldstein DA, Hackell JM, Holbrook EH, Holdsworth SM, Lin KW, Lind MM, Poetker DM, Riley CA, Schneider JS, Seidman MD, Vadlamudi V, Valdez TA, Nnacheta LC, Monjur TM
Otolaryngol Head Neck Surg 2020 Jan;162(1):8-25. doi: 10.1177/0194599819889955. PMID: 31910122
Tunkel DE, Anne S, Payne SC, Ishman SL, Rosenfeld RM, Abramson PJ, Alikhaani JD, Benoit MM, Bercovitz RS, Brown MD, Chernobilsky B, Feldstein DA, Hackell JM, Holbrook EH, Holdsworth SM, Lin KW, Lind MM, Poetker DM, Riley CA, Schneider JS, Seidman MD, Vadlamudi V, Valdez TA, Nnacheta LC, Monjur TM
Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111

Suggested Reading

PubMed

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H
Am J Med Genet 2000 Mar 6;91(1):66-7. doi: 10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p. PMID: 10751092

Recent clinical studies

Etiology

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Orphanet J Rare Dis 2020 Jun 29;15(1):168. doi: 10.1186/s13023-020-01433-5. PMID: 32600370Free PMC Article
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Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111
Major T, Gindele R, Szabó Z, Kis Z, Bora L, Jóni N, Bárdossy P, Rácz T, Bereczky Z
Pathol Oncol Res 2020 Oct;26(4):2783-2788. Epub 2019 Jan 26 doi: 10.1007/s12253-019-00602-7. PMID: 30685840
Hata A, Lagna G
Curr Opin Hematol 2019 May;26(3):161-169. doi: 10.1097/MOH.0000000000000493. PMID: 30855334Free PMC Article

Diagnosis

Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP, Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI)
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Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111

Therapy

Virk ZM, Zhang E, Rodriguez-Lopez J, Witkin A, Wong AK, Luther J, Lin AE, Ning M, Grabowski E, Holbrook EH, Al-Samkari H
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Laryngoscope 2021 Mar;131(3):E689-E693. Epub 2020 Jun 18 doi: 10.1002/lary.28824. PMID: 32557619
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Otolaryngol Head Neck Surg 2020 Jan;162(1_suppl):S1-S38. doi: 10.1177/0194599819890327. PMID: 31910111
Brinjikji W, Iyer VN, Wood CP, Lanzino G
J Neurosurg 2017 Aug;127(2):302-310. Epub 2016 Oct 21 doi: 10.3171/2016.7.JNS16847. PMID: 27767404

Prognosis

Salibe-Filho W, Oliveira FR, Terra-Filho M
J Bras Pneumol 2023;49(2):e20220359. Epub 2023 May 1 doi: 10.36416/1806-3756/e20220359. PMID: 37132738Free PMC Article
Aguilera C, Padró-Miquel A, Esteve-Garcia A, Cerdà P, Torres-Iglesias R, Llecha N, Riera-Mestre A
Genes (Basel) 2023 Mar 22;14(3) doi: 10.3390/genes14030772. PMID: 36981042Free PMC Article
Virk ZM, Zhang E, Rodriguez-Lopez J, Witkin A, Wong AK, Luther J, Lin AE, Ning M, Grabowski E, Holbrook EH, Al-Samkari H
J Thromb Haemost 2023 Jan;21(1):26-36. Epub 2022 Dec 22 doi: 10.1016/j.jtha.2022.09.003. PMID: 36695393Free PMC Article
Thompson KP, Nelson J, Kim H, Pawlikowska L, Marchuk DA, Lawton MT, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group
Orphanet J Rare Dis 2021 Jan 6;16(1):12. doi: 10.1186/s13023-020-01579-2. PMID: 33407668Free PMC Article
Major T, Gindele R, Szabó Z, Kis Z, Bora L, Jóni N, Bárdossy P, Rácz T, Bereczky Z
Pathol Oncol Res 2020 Oct;26(4):2783-2788. Epub 2019 Jan 26 doi: 10.1007/s12253-019-00602-7. PMID: 30685840

Clinical prediction guides

Guilhem A, Ciudad M, Aubriot-Lorton MH, Greigert H, Cladière C, Leguy-Seguin V, Audia S, Samson M, Bonnotte B
Front Immunol 2023;14:1321182. Epub 2023 Dec 8 doi: 10.3389/fimmu.2023.1321182. PMID: 38143764Free PMC Article
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP, Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI)
Genet Med 2023 Nov;25(11):100925. Epub 2023 Jul 5 doi: 10.1016/j.gim.2023.100925. PMID: 37422716Free PMC Article
Aguilera C, Padró-Miquel A, Esteve-Garcia A, Cerdà P, Torres-Iglesias R, Llecha N, Riera-Mestre A
Genes (Basel) 2023 Mar 22;14(3) doi: 10.3390/genes14030772. PMID: 36981042Free PMC Article
Virk ZM, Zhang E, Rodriguez-Lopez J, Witkin A, Wong AK, Luther J, Lin AE, Ning M, Grabowski E, Holbrook EH, Al-Samkari H
J Thromb Haemost 2023 Jan;21(1):26-36. Epub 2022 Dec 22 doi: 10.1016/j.jtha.2022.09.003. PMID: 36695393Free PMC Article
Thompson KP, Nelson J, Kim H, Pawlikowska L, Marchuk DA, Lawton MT, Faughnan ME; Brain Vascular Malformation Consortium HHT Investigator Group
Orphanet J Rare Dis 2021 Jan 6;16(1):12. doi: 10.1186/s13023-020-01579-2. PMID: 33407668Free PMC Article

Recent systematic reviews

Perrodin SF, Vogt AP, Berzigotti A, Kim-Fuchs C, Luedi MM, Candinas D, Banz VM
Transplant Proc 2022 Jan-Feb;54(1):135-143. Epub 2021 Dec 30 doi: 10.1016/j.transproceed.2021.11.010. PMID: 34974893
Brinjikji W, Iyer VN, Wood CP, Lanzino G
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Brinjikji W, Nasr DM, Cloft HJ, Iyer VN, Lanzino G
Interv Neuroradiol 2016 Jun;22(3):354-61. Epub 2016 Jan 27 doi: 10.1177/1591019915623560. PMID: 26823330Free PMC Article

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