Hereditary Angio Edema (HAE)

17 Jan

If you’ve ever received a reply from me to a comment you’ve submitted to one of my posts, you may have noticed the following blurb at the end of my email (since doesn’t have a feature (yet) to notify you when I’ve replied to your comment, I write all my replies first by email and then place a copy of my email in the comment section of the appropriate post):

Raise money for the HAE Association by using for all your Internet searching needs! Simply go to and type in “HAE” where you are asked “Who do you Goodsearch for?”

As a result, I get a lot of questions about “HAE.” Let’s start with this overview from the HAE Association’s website:

HAE Overview

Hereditary angioedema (HAE) is a rare, potentially fatal genetic disorder typified by a deficiency or dysfunction of the plasma protein C1 Inhibitor, and characterized clinically by swelling of the extremities, face, trunk, abdominal viscera, and upper airway. Abdominal attacks can cause severe pain, and mortality from edema induced airway closure has been reported to be as high as 30% in affected kindreds.

Although urticaria and angioedema are fairly common problems that affect nearly 20% of the population, Hereditary Angioedema (HAE) is an extremely rare disease that accounts for about 2% of clinical angioedema cases. The vast majority of patients who experience episodic swelling will be diagnosed with histamine mediated allergic angioedema. Epidemiological estimates peg the incidence of HAE at 1/10,000 to 1/50,000 individuals.

In contrast to allergic angioedema, HAE-related swelling is caused by an autosomal dominant genetic defect that results in compromised functional levels of the plasma protein C1 inhibitor. Because defective C1-inhibitor does not adequately perform its normal regulatory function, a biochemical imbalance can occur and produce a vasoactive peptide that induce[s] the capillaries to release fluids into surrounding tissues, thereby causing edema.

A child has a 50 percent chance of inheriting this disease if a parent possesses the genetic defect, however, the absence of family history does not rule out the HAE diagnosis. Scientists report that as many as 25 percent of newly diagnosed HAE cases result from de novo mutations of the C1-inhibitor gene at conception.

Okay, here’s the layman’s version (otherwise known as the Faerie♥Kat♥Tale):

Hereditary: I was born with this genetic disorder. I inherited it from my mom, who inherited it from her mom, who inherited it from her mom and that’s as far back as I know that branch of the family.

Angio: Angio means “of the blood” and this particular genetic disorder causes my body to make only very tiny amounts of a protein in my blood plasma (that clear stuff that the proteins, red and white cells, miniature submarines and all other sorts of complicated little bits and pieces float around in) called “C1 Inhibitor.”

Edema: Edema means “ring around the rosies, pockets full of posies, ashes, ashes, we all swell up!” If my throat swells up, I have a 30% chance of croaking. If any of the 2001 bits and pieces in my abdominal cavity swell up, I’ll just be in so much pain that I’ll want to croak.

So to recap: You can’t catch HAE from me unless I give birth to you (so I think you’re pretty safe), the kit my blood came in was missing one important little doo-dad and the manufacturer won’t give me a replacement or my money back and, because of all this, I just swell up for no reason at all. Oh, and it could kill me. Isn’t that nice.

Urticaria (itchy, swollen, red areas of the skin which can appear quickly in response to an allergen or due to other conditions; i.e., hives) and allergic angioedema (swelling and/or hives are a reaction to an outside influence such as food, bee sting, cold, heat, latex or drug; the outside influence provokes a histamine reaction, which leads to swelling and/or the hives) happens to about 20% of the population, what I have is extremely rare, affecting only about 2%. I was nineteen years old before I met someone outside my family who had HAE and that was only because I moved from the West coast to the East coast to participate in a clinical trial for an HAE-related drug.

I tend to think visually and symbolically, so here’s my explanation of how C1 Inhibitor works (or rather, in my case, doesn’t work):

Everyone has these little guys running around in their blood plasma, they’re called C1, and they are the dudes in charge of the bloody plumbing system; i.e., your veins and capillaries. They carry around cute little wrenches and drink a lot of beer because they’re usually pretty bored. When they all get together and get drunk enough, they get it into their heads to have a bit of fun and start using their wrenches to open up some hydrants to force the plasma from your blood stream into your individual cells (causing them swell up like fat little hogs). There’s always plenty of cops around with huge nightsticks to clobber them over their heads before the fun gets too out of control. The cops are, oddly enough, called the C1 Inhibitors. Now, as long as the C1 dudes are applying their wrenches when you sprain your ankle or break your leg (swelling is nature’s idea of a cast to immobilize the area so you don’t keep making bad boo boos worse), the C1 Inhibitor cops are cool and let them do their job.

Anybody with a quantitative score under 75 of C1 Inhibitor has HAE; my score is 7. So basically I’ve got the C1 Inhibitor police force equivalent of a single Barney Fife. And my C1 plumber dudes are constantly on a binge and getting plenty of use out of their nasty little wrenches. The neighbors are phoning in complaints, but poor Barney, totally out-manned and out-gunned, just freaks out and does nada. The party gets out of control and stays out of control.

If I were to become pregnant, I would have a 50% chance of passing my defective gene on to my offspring. This is why I don’t have any children. I decided at a very young age (my first hospitalization for HAE was at the age of 5) that I did not want my children to have to live with this affliction. Of course, somebody somewhere was the first person to ever have HAE, through genetic mutation, and it’s still going on today. Of the people being diagnosed with HAE today, 25% have parents who’s genes are perfectly normal.

So help support a good cause and effortlessly raise money for the HAE Association by using GoodSearch. Simply go to and type in “HAE” where you are asked “Who do you Goodsearch for?”


2 Responses to “Hereditary Angio Edema (HAE)”

  1. tarrie February 9, 2009 at 9:20 PM #

    I need to know how to get help for this condition. The doctors have been pacifiyng my husband for 8 years now with and epipen and steroids that dont seem to really help. What should we do.

    • Faerie♥Kat February 9, 2009 at 10:31 PM #

      Hi Tarrie

      There is a whole association, the Hereditary Angio Edema Association, just waiting to help you! They can help you with everything from finding a doctor in your area to helping you get access to the latest treatment for HAE. An incredible wealth of information can be found at their website,, where you will also find their toll free number, (866)798-5598 and links to send email messages and the direct phone numbers for our two wonderful and caring Patient Service Managers:

      Donna Davis (in Hawaii) (808)216-1029 or
      Michelle Williamson (972)814-5205

      There are links to join the email support group, the Digest for which I have created many of my other HAE posts (if you’re interested in reading them, type “HAE” in the search engine box in the upper right hand corner of my blog, or use the pull-down menu under “Check Out What Faerie♥Kat’s Been Writing About” and highlight “HAE” in the right hand column of my blog), as well as an electronic Forum and wonderful other resources.

      Welcome to our “swell” world — your husband’s life is going to get much better!


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