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Angioedema, hereditary, 7(HAE7)

MedGen UID:
1784046
Concept ID:
C5543526
Disease or Syndrome
Synonyms: ANGIOEDEMA, HEREDITARY, 7; HAE7
 
Gene (location): MYOF (10q23.33)
 
Monarch Initiative: MONDO:0025713
OMIM®: 619366

Definition

Hereditary angioedema-7 (HAE7) is an autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. The disorder is due to abnormal vascular permeability (summary by Ariano et al., 2020). For a discussion of genetic heterogeneity of HAE, see 106100. [from OMIM]

Additional description

From MedlinePlus Genetics


The different types of hereditary angioedema have similar signs and symptoms. 

Hereditary angioedema due to C1-INH deficiency is further divided into two types: type I occurs when C1-INH levels are low, and type II occurs when the C1-INH protein is not functioning correctly. 

Hereditary angioedema is broadly divided into two types, which are distinguished by levels of a protein called C1 inhibitor (C1-INH) in the blood. These types are known as hereditary angioedema due to C1-INH deficiency and hereditary angioedema with normal C1-INH. 

Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty.  On average, untreated individuals have swelling episodes every 1 to 2 weeks, and most episodes last for about 3 to 4 days. The frequency and duration of attacks vary greatly among people with hereditary angioedema, even among people in the same family.

Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The parts of the body that are most often affected by swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.  https://medlineplus.gov/genetics/condition/hereditary-angioedema

Clinical features

From HPO
Swollen lip
MedGen UID:
116100
Concept ID:
C0240211
Sign or Symptom
Enlargement of the lip typically due to fluid buildup or inflammation.
Facial edema
MedGen UID:
154241
Concept ID:
C0542571
Pathologic Function
Swelling due to an excessive accumulation of fluid in facial tissues.
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.
Nail bed hemorrhage
MedGen UID:
830602
Concept ID:
C0877087
Sign or Symptom
Small areas of bleeding (hemorrhage) under the fingernail or toenail.
Nailfold capillary tortuosity
MedGen UID:
863168
Concept ID:
C4014731
Finding
An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.

Professional guidelines

PubMed

Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Martinez Saguer I, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Rafique Sheikh F, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T
Allergy 2022 Jul;77(7):1961-1990. Epub 2022 Feb 3 doi: 10.1111/all.15214. PMID: 35006617
Tachdjian R, Johnston DT
Postgrad Med 2021 Sep;133(7):765-770. Epub 2021 Jul 26 doi: 10.1080/00325481.2021.1945219. PMID: 34134576
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

Recent clinical studies

Etiology

Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Martinez Saguer I, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Rafique Sheikh F, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T
Allergy 2022 Jul;77(7):1961-1990. Epub 2022 Feb 3 doi: 10.1111/all.15214. PMID: 35006617
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
Wedi B
Drugs Today (Barc) 2019 Jul;55(7):439-448. doi: 10.1358/dot.2019.55.7.2985293. PMID: 31347612
Banerji A, Riedl MA, Bernstein JA, Cicardi M, Longhurst HJ, Zuraw BL, Busse PJ, Anderson J, Magerl M, Martinez-Saguer I, Davis-Lorton M, Zanichelli A, Li HH, Craig T, Jacobs J, Johnston DT, Shapiro R, Yang WH, Lumry WR, Manning ME, Schwartz LB, Shennak M, Soteres D, Zaragoza-Urdaz RH, Gierer S, Smith AM, Tachdjian R, Wedner HJ, Hebert J, Rehman SM, Staubach P, Schranz J, Baptista J, Nothaft W, Maurer M; HELP Investigators
JAMA 2018 Nov 27;320(20):2108-2121. doi: 10.1001/jama.2018.16773. PMID: 30480729Free PMC Article
Berger M, Baldwin WM 3rd, Jordan SC
Transplantation 2016 Jul;100(7):1415-24. doi: 10.1097/TP.0000000000000995. PMID: 26599489Free PMC Article

Diagnosis

Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Martinez Saguer I, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Rafique Sheikh F, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T
Allergy 2022 Jul;77(7):1961-1990. Epub 2022 Feb 3 doi: 10.1111/all.15214. PMID: 35006617
Tachdjian R, Johnston DT
Postgrad Med 2021 Sep;133(7):765-770. Epub 2021 Jul 26 doi: 10.1080/00325481.2021.1945219. PMID: 34134576
Collins-Yoder AS
Dimens Crit Care Nurs 2016 Jul-Aug;35(4):181-9. doi: 10.1097/DCC.0000000000000188. PMID: 27258954
Stray-Pedersen A, Abrahamsen TG, Frøland SS
J Clin Immunol 2000 Nov;20(6):477-85. doi: 10.1023/a:1026416017763. PMID: 11202238
Neri S, Ierna D, Sfogliano L
Eur J Emerg Med 2000 Jun;7(2):111-2. doi: 10.1097/00063110-200006000-00004. PMID: 11132070

Therapy

Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Martinez Saguer I, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Rafique Sheikh F, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T
Allergy 2022 Jul;77(7):1961-1990. Epub 2022 Feb 3 doi: 10.1111/all.15214. PMID: 35006617
Wedi B
Drugs Today (Barc) 2019 Jul;55(7):439-448. doi: 10.1358/dot.2019.55.7.2985293. PMID: 31347612
Banerji A, Riedl MA, Bernstein JA, Cicardi M, Longhurst HJ, Zuraw BL, Busse PJ, Anderson J, Magerl M, Martinez-Saguer I, Davis-Lorton M, Zanichelli A, Li HH, Craig T, Jacobs J, Johnston DT, Shapiro R, Yang WH, Lumry WR, Manning ME, Schwartz LB, Shennak M, Soteres D, Zaragoza-Urdaz RH, Gierer S, Smith AM, Tachdjian R, Wedner HJ, Hebert J, Rehman SM, Staubach P, Schranz J, Baptista J, Nothaft W, Maurer M; HELP Investigators
JAMA 2018 Nov 27;320(20):2108-2121. doi: 10.1001/jama.2018.16773. PMID: 30480729Free PMC Article
Berger M, Baldwin WM 3rd, Jordan SC
Transplantation 2016 Jul;100(7):1415-24. doi: 10.1097/TP.0000000000000995. PMID: 26599489Free PMC Article
Gompels MM, Lock RJ
Expert Rev Clin Immunol 2011 Sep;7(5):569-73. doi: 10.1586/eci.11.50. PMID: 21895469

Prognosis

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: 34871158Free PMC Article
Collins-Yoder AS
Dimens Crit Care Nurs 2016 Jul-Aug;35(4):181-9. doi: 10.1097/DCC.0000000000000188. PMID: 27258954
Castelli R, Wu MA, Arquati M, Zanichelli A, Suffritti C, Rossi D, Cicardi M
Br J Haematol 2016 Mar;172(6):902-8. Epub 2016 Jan 5 doi: 10.1111/bjh.13908. PMID: 26728240
Stray-Pedersen A, Abrahamsen TG, Frøland SS
J Clin Immunol 2000 Nov;20(6):477-85. doi: 10.1023/a:1026416017763. PMID: 11202238
Nusinow SR, Federici AB, Zimmerman TS, Curd JG
Arthritis Rheum 1984 Dec;27(12):1405-10. doi: 10.1002/art.1780271211. PMID: 6508862

Clinical prediction guides

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
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: 34287942Free PMC Article
Longhurst HJ, Aberer W, Bouillet L, Caballero T, Maurer M, Fabien V, Zanichelli A; IOS Study Group
Eur J Emerg Med 2016 Jun;23(3):224-7. doi: 10.1097/MEJ.0000000000000292. PMID: 27116379Free PMC Article
Tosi M, Stoppa-Lyonnet D, Carter P, Meo T
Behring Inst Mitt 1989 Jul;(84):173-9. PMID: 2572212
Marasini B, Cicardi M, Martignoni GC, Agostoni A
Klin Wochenschr 1978 Aug 15;56(16):819-23. doi: 10.1007/BF01489716. PMID: 308574

Recent systematic reviews

Rayner DG, Liu M, Chu AWL, Chu X, Guyatt GH, Oykhman P, Cao DJ, Moellman J, Ben-Shoshan M, Baker DR, Waserman S, Lang D, Sheikh J, Mathur SK, Beck LA, Khan DA, Oliver ET, Asiniwasis RN, Cole EF, Wheeler KE, Runyon L, Chan J, Trayes KP, Eftekhari S, Gardner DD, Winders T, Saini SS, Bernstein JA, Chu DK
J Allergy Clin Immunol 2024 Oct;154(4):996-1007. Epub 2024 Jun 7 doi: 10.1016/j.jaci.2024.05.026. PMID: 38852861
Beard N, Frese M, Smertina E, Mere P, Katelaris C, Mills K
Cochrane Database Syst Rev 2022 Nov 3;11(11):CD013403. doi: 10.1002/14651858.CD013403.pub2. PMID: 36326435Free PMC Article
Kulthanan K, Ungprasert P, Tapechum S, Rujitharanawong C, Kiratiwongwan R, Munprom K, Terhorst-Molawi D, Maurer M
J Allergy Clin Immunol Pract 2021 Feb;9(2):971-984. Epub 2020 Sep 19 doi: 10.1016/j.jaip.2020.09.009. PMID: 32961312
Burnham K, Reinert JP
Expert Rev Clin Pharmacol 2020 Jul;13(7):779-786. Epub 2020 Jun 4 doi: 10.1080/17512433.2020.1776110. PMID: 32476505
Aygören-Pürsün E, Magerl M, Maetzel A, Maurer M
Orphanet J Rare Dis 2018 May 4;13(1):73. doi: 10.1186/s13023-018-0815-5. PMID: 29728119Free PMC Article

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