Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Angioedema, hereditary, 8(HAE8)

MedGen UID:: 1780930
•Concept ID:: C5543528
•: Disease or Syndrome

Synonyms:	ANGIOEDEMA, HEREDITARY, 8; HAE8

Gene (location): Gene(s) directly associated with this condition or phenotype.	HS3ST6 (16p13.3)

Monarch Initiative:	MONDO:0030298
OMIM®:	619367

Definition

Hereditary angioedema-8 (HAE8) is an autosomal dominant disorder characterized clinically by recurrent and self-limited episodes of localized edema in various organs, including the face, tongue, larynx, and extremities. In rare cases, swelling of the tongue or larynx can lead to airway obstruction. Abdominal attacks may also occur, resulting in abdominal pain, vomiting, and diarrhea. The disorder results from enhanced vascular permeability (summary by Bork et al., 2021). For a discussion of genetic heterogeneity of HAE, see 106100. [from OMIM]

Clinical features

From HPO

Abdominal pain

MedGen UID:: 7803
•Concept ID:: C0000737
•: Sign or Symptom

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

See: Feature record | Search on this feature

Diarrhea

MedGen UID:: 8360
•Concept ID:: C0011991
•: Sign or Symptom

Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.

See: Feature record | Search on this feature

Episodic vomiting

MedGen UID:: 333228
•Concept ID:: C1838993
•: Finding

Paroxysmal, recurrent episodes of vomiting.

See: Feature record | Search on this feature

Laryngeal edema

MedGen UID:: 6017
•Concept ID:: C0023052
•: Pathologic Function

An abnormal accumulation of fluid and swelling in the tissues of the larynx.

See: Feature record | Search on this feature

Edema of the dorsum of hands

MedGen UID:: 752076
•Concept ID:: C2732374
•: Finding

An abnormal accumulation of fluid beneath the skin on the back of the hands.

See: Feature record | Search on this feature

Swollen lip

MedGen UID:: 116100
•Concept ID:: C0240211
•: Sign or Symptom

Enlargement of the lip typically due to fluid buildup or inflammation.

See: Feature record | Search on this feature

Facial edema

MedGen UID:: 154241
•Concept ID:: C0542571
•: Pathologic Function

Swelling due to an excessive accumulation of fluid in facial tissues.

See: Feature record | Search on this feature

Angioedema

MedGen UID:: 1543
•Concept ID:: C0002994
•: Pathologic Function

Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.

See: Feature record | Search on this feature

Show all Hide all

Abnormality of head or neck
- Facial edema
- Swollen lip
Abnormality of metabolism/homeostasis
- Edema of the dorsum of hands
Abnormality of the digestive system
- Diarrhea
- Episodic vomiting
Abnormality of the integument
- Angioedema
Abnormality of the respiratory system
- Laryngeal edema
Constitutional symptom
- Abdominal pain

Professional guidelines

PubMed

Cold Urticaria Syndromes: Diagnosis and Management.

Diaz VL, Gribbons KB, Yazdi-Nejad K, Kuemmerle-Deschner J, Wanderer AA, Broderick L, Hoffman HM
J Allergy Clin Immunol Pract 2023 Aug;11(8):2275-2285. Epub 2023 Jun 7 doi: 10.1016/j.jaip.2023.05.040. PMID: 37290539

Hereditary Angioedema: A Review of the Current and Evolving Treatment Landscape.

Betschel SD, Banerji A, Busse PJ, Cohn DM, Magerl M
J Allergy Clin Immunol Pract 2023 Aug;11(8):2315-2325. Epub 2023 Apr 26 doi: 10.1016/j.jaip.2023.04.017. PMID: 37116793

C1-esterase inhibitor (Cinryze(®)) use in the treatment of pediatric hereditary angioedema.

Gupta R, Balduzzi J, Davis-Lorton M
Immunotherapy 2018 Jun;10(8):635-642. Epub 2018 Mar 23 doi: 10.2217/imt-2017-0049. PMID: 29569504

See all (53)

Recent clinical studies

Etiology

Efficacy and Safety of Donidalorsen for Hereditary Angioedema.

Riedl MA, Tachdjian R, Lumry WR, Craig T, Karakaya G, Gelincik A, Stobiecki M, Jacobs JS, Gokmen NM, Reshef A, Gompels MM, Manning ME, Bordone L, Newman KB, Treadwell S, Wang S, Yarlas A, Cohn DM; OASIS-HAE Team
N Engl J Med 2024 Jul 4;391(1):21-31. Epub 2024 May 31 doi: 10.1056/NEJMoa2402478. PMID: 38819395

Lanadelumab in Patients 2 to Less Than 12 Years Old With Hereditary Angioedema: Results From the Phase 3 SPRING Study.

Maurer M, Lumry WR, Li HH, Aygören-Pürsün E, Busse PJ, Jacobs J, Nurse C, Ahmed MA, Watt M, Yu M; SPRING Investigators
J Allergy Clin Immunol Pract 2024 Jan;12(1):201-211.e6. Epub 2023 Sep 18 doi: 10.1016/j.jaip.2023.09.009. PMID: 37730089

Inhibition of Prekallikrein for Hereditary Angioedema.

Fijen LM, Riedl MA, Bordone L, Bernstein JA, Raasch J, Tachdjian R, Craig T, Lumry WR, Manning ME, Alexander VJ, Newman KB, Revenko A, Baker BF, Nanavati C, MacLeod AR, Schneider E, Cohn DM
N Engl J Med 2022 Mar 17;386(11):1026-1033. doi: 10.1056/NEJMoa2109329. PMID: 35294812

COVID-19 and hereditary angioedema: Incidence, outcomes, and mechanistic implications.

Veronez CL, Christiansen SC, Smith TD, Riedl MA, Zuraw BL
Allergy Asthma Proc 2021 Nov 1;42(6):506-514. doi: 10.2500/aap.2021.42.210083. PMID: 34871158 Free PMC Article

Recurrent angioedema in childhood: hereditary angioedema or histaminergic angioedema?

Ocak M, Nain E, Şahiner ÜM, Akin MŞ, Karabiber E, Şekerel BE, Soyer Ö
Pediatr Dermatol 2021 Jan;38(1):143-148. Epub 2020 Dec 4 doi: 10.1111/pde.14467. PMID: 33275322

See all (187)

Diagnosis

Cold Urticaria Syndromes: Diagnosis and Management.

Hereditary Angioedema: A Review of the Current and Evolving Treatment Landscape.

Betschel SD, Banerji A, Busse PJ, Cohn DM, Magerl M
J Allergy Clin Immunol Pract 2023 Aug;11(8):2315-2325. Epub 2023 Apr 26 doi: 10.1016/j.jaip.2023.04.017. PMID: 37116793

COVID-19 and hereditary angioedema: Incidence, outcomes, and mechanistic implications.

Veronez CL, Christiansen SC, Smith TD, Riedl MA, Zuraw BL
Allergy Asthma Proc 2021 Nov 1;42(6):506-514. doi: 10.2500/aap.2021.42.210083. PMID: 34871158 Free PMC Article

Recurrent angioedema in childhood: hereditary angioedema or histaminergic angioedema?

Ocak M, Nain E, Şahiner ÜM, Akin MŞ, Karabiber E, Şekerel BE, Soyer Ö
Pediatr Dermatol 2021 Jan;38(1):143-148. Epub 2020 Dec 4 doi: 10.1111/pde.14467. PMID: 33275322

Factor XII Contact Activation.

Naudin C, Burillo E, Blankenberg S, Butler L, Renné T
Semin Thromb Hemost 2017 Nov;43(8):814-826. Epub 2017 Mar 27 doi: 10.1055/s-0036-1598003. PMID: 28346966

See all (183)

Therapy

Efficacy and Safety of Donidalorsen for Hereditary Angioedema.

Hereditary Angioedema: A Review of the Current and Evolving Treatment Landscape.

Betschel SD, Banerji A, Busse PJ, Cohn DM, Magerl M
J Allergy Clin Immunol Pract 2023 Aug;11(8):2315-2325. Epub 2023 Apr 26 doi: 10.1016/j.jaip.2023.04.017. PMID: 37116793

Inhibition of Prekallikrein for Hereditary Angioedema.

Long-term prevention of hereditary angioedema attacks with lanadelumab: The HELP OLE Study.

Banerji A, Bernstein JA, Johnston DT, Lumry WR, Magerl M, Maurer M, Martinez-Saguer I, Zanichelli A, Hao J, Inhaber N, Yu M, Riedl MA; HELP OLE Investigators
Allergy 2022 Mar;77(3):979-990. Epub 2021 Aug 13 doi: 10.1111/all.15011. PMID: 34287942 Free PMC Article

8. Hereditary angioedema.

Frank MM
J Allergy Clin Immunol 2008 Feb;121(2 Suppl):S398-401; quiz S419. doi: 10.1016/j.jaci.2007.07.057. PMID: 18241690

See all (223)

Prognosis

COVID-19 and hereditary angioedema: Incidence, outcomes, and mechanistic implications.

Veronez CL, Christiansen SC, Smith TD, Riedl MA, Zuraw BL
Allergy Asthma Proc 2021 Nov 1;42(6):506-514. doi: 10.2500/aap.2021.42.210083. PMID: 34871158 Free PMC Article

Hereditary Angioedema with and Without C1-Inhibitor Deficiency in Postmenopausal Women.

Billebeau A, Fain O, Launay D, Boccon-Gibod I, Bouillet L, Gobert D, Plu-Bureau G, Gompel A; French National Reference Center for Hereditary Angioedema (CREAK)
J Clin Immunol 2021 Jan;41(1):163-170. Epub 2020 Oct 31 doi: 10.1007/s10875-020-00902-7. PMID: 33130967

Development of the Hereditary Angioedema Rapid Triage Tool.

Betschel S, Avilla E, Kanani A, Kastner M, Keith P, Binkley K, Lacuesta G, Borici-Mazi R, Badiou J, Rowe A, Yang WH, Waserman S
J Allergy Clin Immunol Pract 2020 Jan;8(1):310-317.e3. Epub 2019 Jun 22 doi: 10.1016/j.jaip.2019.05.056. PMID: 31238160

Clinical features of pediatric hereditary angioedema.

Nanda MK, Elenburg S, Bernstein JA, Assa'ad AH
J Allergy Clin Immunol Pract 2015 May-Jun;3(3):392-5. Epub 2015 Jan 15 doi: 10.1016/j.jaip.2014.11.012. PMID: 25609346 Free PMC Article

Hereditary angioedema in childhood: an approach to management.

Ebo DG, Verweij MM, De Knop KJ, Hagendorens MM, Bridts CH, De Clerck LS, Stevens WJ
Paediatr Drugs 2010 Aug 1;12(4):257-68. doi: 10.2165/11532590-000000000-00000. PMID: 20593909

See all (65)

Clinical prediction guides

Efficacy and Safety of Donidalorsen for Hereditary Angioedema.

A phase 2 open-label extension study of prekallikrein inhibition with donidalorsen for hereditary angioedema.

Petersen RS, Bordone L, Riedl MA, Tachdjian R, Craig TJ, Lumry WR, Manning ME, Bernstein JA, Raasch J, Zuraw BL, Deng Y, Newman KB, Alexander VJ, Lui C, Schneider E, Cohn DM
Allergy 2024 Mar;79(3):724-734. Epub 2023 Nov 27 doi: 10.1111/all.15948. PMID: 38009241

Lanadelumab in Patients 2 to Less Than 12 Years Old With Hereditary Angioedema: Results From the Phase 3 SPRING Study.

Inhibition of Prekallikrein for Hereditary Angioedema.

Long-term prevention of hereditary angioedema attacks with lanadelumab: The HELP OLE Study.

See all (148)

Recent systematic reviews

Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review.

Guan X, Sheng Y, Liu S, He M, Chen T, Zhi Y
Orphanet J Rare Dis 2024 Jul 8;19(1):256. doi: 10.1186/s13023-024-03265-z. PMID: 38978028 Free PMC Article

Experience with Intravenous Plasma-Derived C1-Inhibitor in Pregnant Women with Hereditary Angioedema: A Systematic Literature Review.

Brooks JP, Radojicic C, Riedl MA, Newcomer SD, Banerji A, Hsu FI
J Allergy Clin Immunol Pract 2020 Jun;8(6):1875-1880.e3. Epub 2020 Apr 3 doi: 10.1016/j.jaip.2020.03.009. PMID: 32251736

Methylphenidate for attention deficit hyperactivity disorder (ADHD) in children and adolescents - assessment of adverse events in non-randomised studies.

Storebø OJ, Pedersen N, Ramstad E, Kielsholm ML, Nielsen SS, Krogh HB, Moreira-Maia CR, Magnusson FL, Holmskov M, Gerner T, Skoog M, Rosendal S, Groth C, Gillies D, Buch Rasmussen K, Gauci D, Zwi M, Kirubakaran R, Håkonsen SJ, Aagaard L, Simonsen E, Gluud C
Cochrane Database Syst Rev 2018 May 9;5(5):CD012069. doi: 10.1002/14651858.CD012069.pub2. PMID: 29744873 Free PMC Article

See all (3)

MedGen

National Center for Biotechnology Information

Send to:

Angioedema, hereditary, 8(HAE8)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity