Genetic Test Indications and Interpretations in Patients With Hereditary Angioedema

Management of hereditary angioedema in pregnant women: a review

“…However, it must first be known that the family carries the disease-causing mutation. Genetic testing of asymptomatic children with C1-INH-HAE or FXII-HAE is especially beneficial because diagnosis can help to ensure that the correct treatment is provided in the event of an attack,10,37,38 as well as in cases where emergency medical or surgical procedures are necessary. It is noteworthy that there is no diagnostic test for nC1-INH-HAE without mutation in the F12 gene (U-HAE).…”

Does this patient with urticaria/angioedema have anaphylaxis?

“…Rarely, angioedema may be hereditary, due to defects in C1-esterase inhibitor (types I and II) 6 and gain of function mutations in coagulation factor XII (Hageman factor, type III). 7 Angioedema may occur in the context of specific IgE-mediated responses but most cases are not associated with any identifiable external trigger.…”

Hereditary and Acquired Complement Component 1 Esterase Inhibitor Deficiency: A Review for the Hematologist

“…Severe abdominal pain or laryngeal edema requires immediate attention. Treatment should be directed not only at addressing the C1-INH deficiency causing the swelling but also the necessary supportive care, such as pain medication for abdominal symptoms or intubation or tracheotomy to establish an open airway [44]. Rapid treatment after the onset of symptoms may shorten the time to symptom resolution, potentially limiting the development of more severe symptoms [45].…”

“…Fresh frozen plasma was in use prior to the availability of these agents and is still used in some parts of the world; however, it has the potential to worsen an attack since it contains other components of the complement cascade and of the contact system in addition to C1-INH. Fresh frozen plasma should therefore be used with caution, particularly in emergency situations [44]. …”

“…Optimal management of HAE encompasses 3 approaches to patient care: (1) immediate therapy for an acute episode, (2) short-term prophylaxis before dental or surgical procedures and (3) routine prophylaxis to minimize the disruption of normal life that accompanies this disease [10,44]. …”