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Episodic upper airway obstruction

MedGen UID:
868579
Concept ID:
C4022978
Finding
HPO: HP:0012271

Definition

Intermittent episodes of increased resistance to the passage of air in the upper airway. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpisodic upper airway obstruction

Conditions with this feature

Hereditary angioedema type 3
MedGen UID:
346653
Concept ID:
C1857728
Disease or Syndrome
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.\n\nSymptoms 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.\n\nHereditary 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. \n\n\n\nHereditary 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. \n\nThe different types of hereditary angioedema have similar signs and symptoms. 

Professional guidelines

PubMed

Spencer JR
Compend Contin Educ Dent 2023 Jun;44(6):308-312; quiz 313. PMID: 37418466
Windfuhr JP, Toepfner N, Steffen G, Waldfahrer F, Berner R
Eur Arch Otorhinolaryngol 2016 Apr;273(4):989-1009. Epub 2016 Feb 16 doi: 10.1007/s00405-016-3904-x. PMID: 26882912
Kaditis AG, Alonso Alvarez ML, Boudewyns A, Alexopoulos EI, Ersu R, Joosten K, Larramona H, Miano S, Narang I, Trang H, Tsaoussoglou M, Vandenbussche N, Villa MP, Van Waardenburg D, Weber S, Verhulst S
Eur Respir J 2016 Jan;47(1):69-94. Epub 2015 Nov 5 doi: 10.1183/13993003.00385-2015. PMID: 26541535

Recent clinical studies

Etiology

Zhang Y, Yu B, Qi Q, Azarbarzin A, Chen H, Shah NA, Ramos AR, Zee PC, Cai J, Daviglus ML, Boerwinkle E, Kaplan R, Liu PY, Redline S, Sofer T
Nat Commun 2024 Feb 28;15(1):1845. doi: 10.1038/s41467-024-46019-y. PMID: 38418471Free PMC Article
Nieuwenhuijs D, Bruce J, Drummond GB, Warren PM, Wraith PK, Dahan A
Br J Anaesth 2012 May;108(5):864-71. Epub 2012 Feb 26 doi: 10.1093/bja/aes017. PMID: 22369766Free PMC Article
Mavanur M, Sanders M, Unruh M
Indian J Med Res 2010 Feb;131:277-84. PMID: 20308753

Diagnosis

Mavanur M, Sanders M, Unruh M
Indian J Med Res 2010 Feb;131:277-84. PMID: 20308753
Weldon BC, Krafcik JM
J Pediatr Surg 2000 Sep;35(9):1381-4. doi: 10.1053/jpsu.2000.9345. PMID: 10999707

Prognosis

Nieuwenhuijs D, Bruce J, Drummond GB, Warren PM, Wraith PK, Dahan A
Br J Anaesth 2012 May;108(5):864-71. Epub 2012 Feb 26 doi: 10.1093/bja/aes017. PMID: 22369766Free PMC Article

Clinical prediction guides

Zhang Y, Yu B, Qi Q, Azarbarzin A, Chen H, Shah NA, Ramos AR, Zee PC, Cai J, Daviglus ML, Boerwinkle E, Kaplan R, Liu PY, Redline S, Sofer T
Nat Commun 2024 Feb 28;15(1):1845. doi: 10.1038/s41467-024-46019-y. PMID: 38418471Free PMC Article

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