Question of the Week

” How common is the occurrence of lab error rates in HAE testing? Why would a patient test low C4/C1 inhibitor level years ago and now test within normal range (without patient taking HAE therapies or androgens)”
Mar 28, 2016

Dr. C: I hope everyone had a Happy Easter. I can certainly see where this would be confusing. For the C1 inhibitor testing the answer may lie in how the testing was performed. There are two tests for the C1 inhibitor functional level. The Chromogenic is the most accurate—near 100%. The ELISA technique can demonstrate […]

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“Is there a recommended protocol patients should work with their primary physicians to set up in case of an emergency?”
Mar 22, 2016

Dr. C: Happy Spring to everyone. This is a topic that is critical to consider for all patients with HAE. As in all things we need to “hope for the best, plan for the worst”. As all patients can experience unpredictable attacks of swelling it is recommended that everyone have two doses of effective therapy […]

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“Why is trauma considered a “trigger” for HAE attacks?”
Mar 17, 2016

Dr. C: We thank our reader for this thought-provoking question. Our answer will need to be mainly speculative, like many things in HAE we can document what occurs but are uncertain why. It is well known that certain types of trauma such as dental work are associated with attacks of swelling. I have always found […]

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QOTW “Any progress in gene therapy for HAE?”
Feb 22, 2016

Dr. C: This is at the heart of what our future hope is for HAE—a cure. For HAE type I and II with well-characterized mutations linked to the disease, gene therapy is a topic of great interest. In the past attempts to deliver “good” genes to cure disease have worked in a few instances but […]

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“Can you comment on medications that might be used to treat Diabetes and their impact on HAE?”
Feb 11, 2016

Dr. C: This is a very important topic. We see too frequently instances where the treatment of one condition can unmask or aggravate another medical problem. If this is not recognized, the patient ends up with an escalating medication cycle and deteriorating health. Diabetes is a common disease that may affect many patients with HAE. […]

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QOTW “Can you explain why we need to take C1 inhibitor regularly to prevent attacks of swelling?”
Feb 3, 2016

Dr. C: Greetings, we are glad to be back from the WSAAI meeting. Hopefully you enjoyed the posts from the gathering. I can see where this question can be puzzling for our reader. It would seem that if you replace something that is should just fix the problem. As we have discussed for patients with […]

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QOTW “With the currently available therapies for HAE do I need to have pain medication on hand as part of my management program?”
Jan 19, 2016

Dr. C: With the exception of children with HAE we unfortunately all remember when pain medication was one of the mainstays of treatment to ease the suffering from swelling. For abdominal attacks narcotics and fluid support were all we had for acute care. Fresh Frozen Plasma was the only therapy with the potential to arrest […]

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QOTW – Do women with HAE suffer more during pregnancy if their unborn child also has HAE? Can C1INH pass through the placenta?
Dec 7, 2015

‘When an HAE mother is carrying a child with or without HAE does the child’s C1 inhibitor pass through the placenta into the mother’s body? I have one daughter with HAE, while carrying her I was very sick. I have 2 other daughters without HAE–during those pregnancies I had very few if any attacks. My […]

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QOTW: “What is the difference between food allergies and food triggers for HAE?”
Dec 2, 2015

Dr. C:The simple answer to the question is that a true food allergy is the result of the immune system recognizing the structure of food as an allergen and making allergic antibodies (IgE) to that food. With exposure to what should be a harmless material (food) the sensitized individual will unleash a firestorm of activation […]

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QOTW – “If type 3 has normal C1 level and normal C1 function, what is the treatment for type 3?”
Nov 23, 2015

Dr. C:I can certainly see why this is a confusing topic. Even the name is problematic. The accepted nomenclature for Type 3 is now ‘HAE with normal C1 inhibitor’ (HAE-nl-C1INH). This has been further subdivided into ‘HAE-nl-C1INH with Factor XII mutation’ (HAE-nl-C1INH-XII) and ‘HAE-nl-C1INH unknown’ (HAE-nl-C1INH-U). We believe that there may be a number of […]

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