Q:

9/14/2012
I have a 19-year-old woman with recently diagnosed HAE, whose father died from an accute angioedema attack. She has a 1-year-old son with no history of angioedema. (but who sounds atopic by reported history).

Three questions:
1. Is there a minimum age when HAE can be diagnosed by labs?

2. If this child is diagnosed with HAE at this age (or maybe later as an older child), what therapies are available to pre-adolescent children?

3. For the mother, we are in the process of obtaining Firazyr and Cinryze. She was recently prescribed an Epi-Pen by the ER. Would an Epi-Pen have any benefit (or harm) if used during an acute attack, assuming other established HAE therapies were unavailable.

Thank you very much.

A:

Thank you for your inquiry.

All of your questions are answered in an excellent review article about hereditary angioedema in children. The abstract of this article along with a link to it are copied for you below. It is published in an open access journal and is available to you free of charge. It discusses diagnostic testing and at what age standard tests can be trusted. In addition, it gives a detailed analysis of the treatment that can be used in children.

In actuality, the injection of epinephrine seems to have little beneficial effect in the treatment of hereditary angioedema, but would, in my opinion, cause no harm. Nonetheless, as you can see when you read the above mentioned article, there are certainly other effective therapies for children that can be used in the acute attack.

Thank you again for your inquiry and I hope this response has been helpful to you.

Pediatric hereditary angioedema due to C1-inhibitor deficiency
Henriette Farkas: Allergy, Asthma & Clinical Immunology 2010, 6:18

Allergy Asthma Clin Immunol. 2010 Jul 28;6(1):18.
Pediatric hereditary angioedema due to C1-inhibitor deficiency.
Farkas H.
Source
3rd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, H-1125 Budapest, Kútvölgyi út 4, Hungary.
Abstract
Hereditary angioedema (HAE) resulting from the deficiency of the C1 inhibitor (C1-INH) is a rare, life-threatening disorder. It is characterized by attacks of angioedema involving the skin and/or the mucosa of the upper airways, as well as the intestinal mucosa. In approximately 50 per cent of cases, clinical manifestations may appear during childhood. The complex management of HAE in pediatric patients is in many respects different from the management of adults. Establishing the diagnosis early, preferably before the onset of clinical symptoms, is essential in cases with a positive family history. Complement studies usually afford accurate diagnosis, whereas molecular genetics tests may prove helpful in uncertain cases. Appropriate therapy, supported by counselling, suitable modification of lifestyle, and avoidance of triggering factors (which primarily include mechanical trauma, mental stress and airway infections in children) may spare the patient unnecessary surgery and may prevent mortality. Prompt control of edematous attacks, short-term prophylaxis and intermittent therapy are recommended as the primary means for the management of pediatric cases. Medicinal products currently used for the treatment of children with hereditary angioedema include antifibrinolytics, attenuated androgens, and C1-INH replacement therapy. Current guidelines favour antifibrinolytics for long-term prophylaxis because of their favorable safety profile but efficacy may be lacking. Attenuated androgens administered in the lowest effective dose are another option. C1-INH replacement therapy is also an effective and safe agent for children. Regular monitoring and follow-up of patients are necessary.

References:
1. Davis CA, et al. Serum complement levels in infancy: age related changes. Pediatric Research 1979; 13:1043-1046.

2. Bork, et al. Clinical studies of sudden upper airway obstruction in patients with hereditary angioedema due to C1 esterase inhibitor deficiency. Archives of Internal Medicine 2003; 163:1229-1235.

3. Bork K, Ressel N. Sudden airway obstruction in patients with hereditary angioedema. Transfusion and Apheresis Science 2003; 29(3):235-238.

Sincerely,
Phil Lieberman, M.D.

AAAAI - American Academy of Allergy Asthma & Immunology