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Hereditary angioedema type 1(HAE1)

MedGen UID:
403466
Concept ID:
C2717906
Disease or Syndrome
Synonyms: Deficiency of C1 esterase inhibitor; HAE1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SERPING1 (11q12.1)
 
Monarch Initiative: MONDO:0015053
OMIM®: 106100
Orphanet: ORPHA100050

Definition

A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. [from ORDO]

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.
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.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Intestinal edema
MedGen UID:
216042
Concept ID:
C1142262
Finding
Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.
Hypoesthesia
MedGen UID:
6974
Concept ID:
C0020580
Finding
Decreased ability to perceive touch.
Peripheral axonal neuropathy
MedGen UID:
266071
Concept ID:
C1263857
Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Axonal degeneration
MedGen UID:
332464
Concept ID:
C1837496
Finding
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Laryngeal edema
MedGen UID:
6017
Concept ID:
C0023052
Pathologic Function
An abnormal accumulation of fluid and swelling in the tissues of the larynx.
Pharyngeal edema
MedGen UID:
66733
Concept ID:
C0236024
Pathologic Function
Abnormal accumulation of fluid leading to swelling of the pharynx.
Autoimmunity
MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Decreased circulating complement C4 concentration
MedGen UID:
893114
Concept ID:
C4073169
Finding
Concentration of the complement component C4 in the blood circulation below the lower limit of normal.
Reduced circulating CH50 activity
MedGen UID:
1380457
Concept ID:
C4476774
Finding
A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.
Decreased circulating C1-esterase inhibitor concentration
MedGen UID:
1814357
Concept ID:
C5676792
Finding
Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation.
Periorbital edema
MedGen UID:
56223
Concept ID:
C0151205
Pathologic Function
Edema affecting the region situated around the orbit of the eye.
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.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.

Professional guidelines

PubMed

Kesh S, Bernstein JA
Ann Allergy Asthma Immunol 2022 Dec;129(6):692-702. Epub 2022 Aug 19 doi: 10.1016/j.anai.2022.08.003. PMID: 35988876
Longhurst HJ, Bork K
Br J Hosp Med (Lond) 2019 Jul 2;80(7):391-398. doi: 10.12968/hmed.2019.80.7.391. PMID: 31283393
Farkas H
Paediatr Drugs 2018 Apr;20(2):135-151. doi: 10.1007/s40272-017-0273-x. PMID: 29214395

Curated

Orphanet, Non histamine-induced angioedema, 2009

Recent clinical studies

Etiology

Sandberg A, Lassenius M, Vihervaara V, Toppila I, Huilaja L
Acta Derm Venereol 2024 May 6;104:adv24176. doi: 10.2340/actadv.v104.24176. PMID: 38708992Free PMC Article
Maurer M, Caballero T, Aberer W, Zanichelli A, Bouillet L, Bygum A, Grumach AS, Botha J, Andresen I, Longhurst HJ; IOS Study Group
J Eur Acad Dermatol Venereol 2021 Dec;35(12):2421-2430. Epub 2021 Oct 5 doi: 10.1111/jdv.17654. PMID: 34506666
Soyak Aytekin E, Çağdaş D, Tan C, Tezcan İ
Eur Ann Allergy Clin Immunol 2021 Mar;53(2):75-79. Epub 2021 Mar 1 doi: 10.23822/EurAnnACI.1764-1489.146. PMID: 32351099

Diagnosis

Sandberg A, Lassenius M, Vihervaara V, Toppila I, Huilaja L
Acta Derm Venereol 2024 May 6;104:adv24176. doi: 10.2340/actadv.v104.24176. PMID: 38708992Free PMC Article
Soyak Aytekin E, Çağdaş D, Tan C, Tezcan İ
Eur Ann Allergy Clin Immunol 2021 Mar;53(2):75-79. Epub 2021 Mar 1 doi: 10.23822/EurAnnACI.1764-1489.146. PMID: 32351099
Ando T, Torii R, Kazuta T, Endo T, Araki A, Horiuchi T, Terao S, Katsuno M
Intern Med 2019 Jul 1;58(13):1961-1963. Epub 2019 Mar 28 doi: 10.2169/internalmedicine.2015-18. PMID: 30918175Free PMC Article

Therapy

Ando T, Torii R, Kazuta T, Endo T, Araki A, Horiuchi T, Terao S, Katsuno M
Intern Med 2019 Jul 1;58(13):1961-1963. Epub 2019 Mar 28 doi: 10.2169/internalmedicine.2015-18. PMID: 30918175Free PMC Article

Prognosis

Sandberg A, Lassenius M, Vihervaara V, Toppila I, Huilaja L
Acta Derm Venereol 2024 May 6;104:adv24176. doi: 10.2340/actadv.v104.24176. PMID: 38708992Free PMC Article
Maurer M, Caballero T, Aberer W, Zanichelli A, Bouillet L, Bygum A, Grumach AS, Botha J, Andresen I, Longhurst HJ; IOS Study Group
J Eur Acad Dermatol Venereol 2021 Dec;35(12):2421-2430. Epub 2021 Oct 5 doi: 10.1111/jdv.17654. PMID: 34506666

Clinical prediction guides

Maurer M, Caballero T, Aberer W, Zanichelli A, Bouillet L, Bygum A, Grumach AS, Botha J, Andresen I, Longhurst HJ; IOS Study Group
J Eur Acad Dermatol Venereol 2021 Dec;35(12):2421-2430. Epub 2021 Oct 5 doi: 10.1111/jdv.17654. PMID: 34506666

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