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Telangiectasia, hereditary hemorrhagic, type 1(HHT1)

MedGen UID:
1643786
Concept ID:
C4551861
Disease or Syndrome
Synonyms: ENG-Related Hereditary Hemorrhagic Telangiectasia; HHT1; Osler Weber Rendu syndrome type 1
 
Gene (location): ENG (9q34.11)
 
Monarch Initiative: MONDO:0008535
OMIM®: 187300

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
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.

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.

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.

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).

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.

Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.  https://medlineplus.gov/genetics/condition/hereditary-hemorrhagic-telangiectasia

Clinical features

From HPO
Chest pain
MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Clubbing
MedGen UID:
57692
Concept ID:
C0149651
Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Transient ischemic attack
MedGen UID:
853
Concept ID:
C0007787
Disease or Syndrome
A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.
Pulmonary hemorrhage
MedGen UID:
57732
Concept ID:
C0151701
Pathologic Function
Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.
Spinal arteriovenous malformation
MedGen UID:
83876
Concept ID:
C0348023
Congenital Abnormality
Right-to-left shunt
MedGen UID:
98446
Concept ID:
C0428871
Finding
Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.
Hepatic arteriovenous malformation
MedGen UID:
101044
Concept ID:
C0520557
Congenital Abnormality
A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.
High-output congestive heart failure
MedGen UID:
196646
Concept ID:
C0742747
Disease or Syndrome
A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.
Gastrointestinal arteriovenous malformation
MedGen UID:
148166
Concept ID:
C0744321
Anatomical Abnormality
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.
Gastrointestinal angiodysplasia
MedGen UID:
163130
Concept ID:
C0854242
Disease or Syndrome
Dysplasia affecting the vasculature of the gastrointestinal tract.
Cerebral arteriovenous malformation
MedGen UID:
214590
Concept ID:
C0917804
Congenital Abnormality
Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018).
Pulmonary arteriovenous malformation
MedGen UID:
341826
Concept ID:
C1857690
Anatomical Abnormality
Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.
Venous varicosities of celiac and mesenteric vessels
MedGen UID:
341828
Concept ID:
C1857692
Finding
Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.
Arteriovenous fistulas of celiac and mesenteric vessels
MedGen UID:
387886
Concept ID:
C1857693
Anatomical Abnormality
Cerebral hemorrhage
MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
Hemorrhage into the parenchyma of the brain.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Dilatation of mesenteric artery
MedGen UID:
1381896
Concept ID:
C4476552
Anatomical Abnormality
Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .
Dilatation of celiac artery
MedGen UID:
1393390
Concept ID:
C4477059
Anatomical Abnormality
Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Hematemesis
MedGen UID:
6770
Concept ID:
C0018926
Sign or Symptom
The vomiting of blood.
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Melena
MedGen UID:
7523
Concept ID:
C0025222
Pathologic Function
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Subarachnoid hemorrhage
MedGen UID:
11625
Concept ID:
C0038525
Disease or Syndrome
Hemorrhage occurring between the arachnoid mater and the pia mater.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Ischemic stroke
MedGen UID:
215292
Concept ID:
C0948008
Disease or Syndrome
A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes. Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; 612309), the renin-angiotensin-aldosterone system (see, e.g., ACE; 106180), homocysteine (see, e.g., MTHFR; 607093), and lipoprotein metabolism (see, e.g., APOE; 107741). See also hemorrhagic stroke, or intracerebral hemorrhage (ICH; 614519).
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Polycythemia
MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
Spontaneous, recurrent epistaxis
MedGen UID:
816045
Concept ID:
C3809715
Finding
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Hemoptysis
MedGen UID:
5502
Concept ID:
C0019079
Sign or Symptom
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Hemothorax
MedGen UID:
5510
Concept ID:
C0019123
Pathologic Function
The presence of blood in the pleural space.
Exertional dyspnea
MedGen UID:
68549
Concept ID:
C0231807
Sign or Symptom
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.
Hypoxemia
MedGen UID:
152145
Concept ID:
C0700292
Finding
An abnormally low level of blood oxygen.
Restrictive ventilatory defect
MedGen UID:
478856
Concept ID:
C3277226
Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Reduced FEV1/FVC ratio
MedGen UID:
898646
Concept ID:
C4280729
Finding
Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).
Brain abscess
MedGen UID:
2335
Concept ID:
C0006105
Disease or Syndrome
A collection of pus, immune cells, and other material in the brain.
Tongue telangiectasia
MedGen UID:
871382
Concept ID:
C4025878
Anatomical Abnormality
Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
Conjunctival telangiectasia
MedGen UID:
66780
Concept ID:
C0239105
Disease or Syndrome
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Gastrointestinal telangiectasia
MedGen UID:
451085
Concept ID:
C1619711
Disease or Syndrome
Telangiectasia affecting the gastrointestinal tract.
Nail bed telangiectasia
MedGen UID:
373904
Concept ID:
C1838167
Finding
Telangiectases in the area of the nails.
Lip telangiectasia
MedGen UID:
347522
Concept ID:
C1857697
Finding
Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.
Palate telangiectasia
MedGen UID:
387887
Concept ID:
C1857699
Finding
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.
Fingerpad telangiectases
MedGen UID:
396091
Concept ID:
C1861248
Finding
Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.
Telangiectasia of the skin
MedGen UID:
867629
Concept ID:
C4022018
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Nasal mucosa telangiectasia
MedGen UID:
871359
Concept ID:
C4025853
Finding
Telangiectasia of the nasal mucosa.

Professional guidelines

PubMed

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R
Ann Intern Med 2020 Dec 15;173(12):989-1001. Epub 2020 Sep 8 doi: 10.7326/M20-1443. PMID: 32894695
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
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article

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

Hammill AM, Wusik K, Kasthuri RS
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):469-477. doi: 10.1182/hematology.2021000281. PMID: 34889398Free PMC Article
Al-Samkari H, Kasthuri RS, Parambil JG, Albitar HA, Almodallal YA, Vázquez C, Serra MM, Dupuis-Girod S, Wilsen CB, McWilliams JP, Fountain EH, Gossage JR, Weiss CR, Latif MA, Issachar A, Mei-Zahav M, Meek ME, Conrad M, Rodriguez-Lopez J, Kuter DJ, Iyer VN
Haematologica 2021 Aug 1;106(8):2161-2169. doi: 10.3324/haematol.2020.261859. PMID: 32675221Free PMC Article
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E
Blood 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560. PMID: 32573726Free PMC Article
Peterson J
Radiol Technol 2017 Jan;88(3):277-294. PMID: 28298578
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; HHT Foundation International - Guidelines Working Group
J Med Genet 2011 Feb;48(2):73-87. Epub 2009 Jun 23 doi: 10.1136/jmg.2009.069013. PMID: 19553198

Diagnosis

Hammill AM, Wusik K, Kasthuri RS
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):469-477. doi: 10.1182/hematology.2021000281. PMID: 34889398Free PMC Article
Schotland H, Denstaedt S
N Engl J Med 2019 Dec 26;381(26):2552. doi: 10.1056/NEJMicm1905896. PMID: 31881140
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article
Peterson J
Radiol Technol 2017 Jan;88(3):277-294. PMID: 28298578
Rimmer J, Lund VJ
Rhinology 2015 Sep;53(3):195-203. doi: 10.4193/Rhino14.274. PMID: 26460394

Therapy

Al-Samkari H
Blood 2021 Feb 18;137(7):888-895. doi: 10.1182/blood.2020008739. PMID: 33171488
Robert F, Desroches-Castan A, Bailly S, Dupuis-Girod S, Feige JJ
Orphanet J Rare Dis 2020 Jan 7;15(1):4. doi: 10.1186/s13023-019-1281-4. PMID: 31910860Free PMC Article
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
Kritharis A, Al-Samkari H, Kuter DJ
Haematologica 2018 Sep;103(9):1433-1443. Epub 2018 May 24 doi: 10.3324/haematol.2018.193003. PMID: 29794143Free PMC Article
Auerbach M, Adamson JW
Am J Hematol 2016 Jan;91(1):31-8. Epub 2015 Nov 17 doi: 10.1002/ajh.24201. PMID: 26408108

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
Hammill AM, Wusik K, Kasthuri RS
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):469-477. doi: 10.1182/hematology.2021000281. PMID: 34889398Free PMC Article
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E
Blood 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560. PMID: 32573726Free PMC Article
Buscarini E, Gandolfi S, Alicante S, Londoni C, Manfredi G
Abdom Radiol (NY) 2018 Aug;43(8):1920-1930. doi: 10.1007/s00261-018-1671-4. PMID: 29987403
Rimmer J, Lund VJ
Rhinology 2015 Sep;53(3):195-203. doi: 10.4193/Rhino14.274. PMID: 26460394

Clinical prediction guides

Chitsuthipakorn W, Hoang MP, Kanjanawasee D, Seresirikachorn K, Snidvongs K
Curr Allergy Asthma Rep 2023 Dec;23(12):689-701. Epub 2023 Nov 23 doi: 10.1007/s11882-023-01116-8. PMID: 37995018
Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free PMC Article
Kitayama K, Ishiguro T, Komiyama M, Morisaki T, Morisaki H, Minase G, Hamanaka K, Miyatake S, Matsumoto N, Kato M, Takahashi T, Yorifuji T
BMC Med Genomics 2021 Dec 6;14(1):288. doi: 10.1186/s12920-021-01139-y. PMID: 34872578Free PMC Article
Al-Samkari H, Kasthuri RS, Parambil JG, Albitar HA, Almodallal YA, Vázquez C, Serra MM, Dupuis-Girod S, Wilsen CB, McWilliams JP, Fountain EH, Gossage JR, Weiss CR, Latif MA, Issachar A, Mei-Zahav M, Meek ME, Conrad M, Rodriguez-Lopez J, Kuter DJ, Iyer VN
Haematologica 2021 Aug 1;106(8):2161-2169. doi: 10.3324/haematol.2020.261859. PMID: 32675221Free PMC Article
Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E
Blood 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560. PMID: 32573726Free PMC Article

Recent systematic reviews

Chitsuthipakorn W, Hoang MP, Kanjanawasee D, Seresirikachorn K, Snidvongs K
Curr Allergy Asthma Rep 2023 Dec;23(12):689-701. Epub 2023 Nov 23 doi: 10.1007/s11882-023-01116-8. PMID: 37995018
Niklasson J, Rönnblom A, Lidian A, Thor A
Oral Surg Oral Med Oral Pathol Oral Radiol 2023 Dec;136(6):691-702. Epub 2023 Aug 9 doi: 10.1016/j.oooo.2023.08.001. PMID: 37752017
Albarki H, Rimmer J
Am J Rhinol Allergy 2022 Nov;36(6):890-896. Epub 2022 Aug 4 doi: 10.1177/19458924221118131. PMID: 35929049
Halderman AA, Ryan MW, Marple BF, Sindwani R, Reh DD, Poetker DM
Am J Rhinol Allergy 2018 Jul;32(4):258-268. Epub 2018 May 10 doi: 10.1177/1945892418768588. PMID: 29745243
Felli E, Addeo P, Faitot F, Nappo G, Oncioiu C, Bachellier P
HPB (Oxford) 2017 Jul;19(7):567-572. Epub 2017 Apr 17 doi: 10.1016/j.hpb.2017.03.005. PMID: 28427830

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