Getting Your Swell Facts Straight

19 Jan

I cannot remember how many times, but it’s far too many, people with Hereditary Angio Edema (HAE) and Acquired Angio Edema (AAE) have declared they have a C1 deficiency.  I have patiently pointed out and tried to explain that HAE and AAE is either a C1 Inhibitor deficiency or malfunction, and the distinction is critically important.

HAE patients must understand and be prepared to correctly advise otherwise knowledge-deficient physicians (especially those in emergency rooms) of the following:

  • HAE Type I is a deficiency of the C1 Inhibitor (where C4 is almost always low, but C1, C3 and C1q are normal), while
  • HAE Type II is dysfunctional but normal levels of C1 Inhibitor (where C4 is almost always low, but C1, C3 and C1q are normal)
  • HAE Type III shows normal levels of C1 Inhibitor, C1, C1q, C3 and C4, but high estrogen levels are present (mutation in the gene for human coagulation Factor XII may be responsible for swelling in these patients)

AAE patients must understand and be prepared with the following information:

  • AAE Type I is a deficiency of the C1 Inhibitor (where C4 is almost always low, C1q is sometimes low, but C3 is normal) with evidence of an underlying lymphoproliferative disorder, while
  • AAE Type II is a deficiency of the C1 Inhibitor (where C4 is almost always low, C1q is sometimes low, but C3 is normal) with evidence of autoantibodies but there is no evidence of an underlying lymphoproliferative disorder

Other patients with angio edema (swelling) must understand the following:

  • Idiopathic Angio Edema (IAE) sufferers have normal levels of C1 Inhibitor, C1, C1q, C3 and C4, and neither parasites, infections, autoimmune diseases, ACE Inhibitors nor high estrogen levels are present, but swelling and/or uticaria (hives) is present for 6 weeks or more (“idiopathic” means the underlying cause is unknown)
  • Nonhistaminergic Angio Edema (INAE) sufferers have normal levels of C1 Inhibitor, C1, C1q, C3 and C4, and neither parasites, infections, autoimmune diseases, high estrogen levels, allergies, or ACE Inhibitors are present, plus uticaria (hives) are absent
  • Allergic sufferers have normal levels of C1 Inhibitor, C1, C1q, C3 and C4, neither parasites, infections, autoimmune diseases, high estrogen levels, or ACE Inhibitors are present, and uticaria (hives) may be present, but an outside influence (food, bee sting, latex, drug) is required to provoke a histamine reaction that leads to swelling and/or uticaria (hives) lasting less than 6 weeks (if greater than 6 weeks, see IAE) (this is actually the most common type of angio edema)
  • Angiotensin-Converting Enzyme (ACE) Inhibitor Angio Edema sufferers have normal levels of C1 Inhibitor, C1, C1q, C3 and C4, neither parasites, infections, autoimmune diseases, allergies or high estrogen levels are present, and uticaria (hives) are absent, but swelling commences anywhere from a few hours to years after first starting high blood pressure medication

Source: Hereditary Angio Edema Association

Here is a list of all the blood complement deficiencies:

Complement Deficiencies

The complement system is part of the innate as well as the adaptive immune system; it is a group of circulating proteins that can bind pathogens and form a membrane attack complex. Complement deficiencies are the result of a lack of any of these proteins. They may predispose to infections but also to autoimmune conditions.

  • C1q deficiency (lupus-like syndrome, rheumatoid disease, infections)
  • C1r deficiency (lupus-like syndrome, rheumatoid disease, infections)
  • C4 deficiency (lupus-like syndrome, rheumatoid disease, infections)
  • C2 deficiency (lupus-like syndrome, vasculitis, polymyositis, pyogenic infections)
  • C3 deficiency (recurrent pyogenic infections)
  • C5 deficiency (Neisserial infections, Systemic Lupus Erythematosus)
  • C6 deficiency (Neisserial infections, Systemic Lupus Erythematosus)
  • C7 deficiency (Neisserial infections, Systemic Lupus Erythematosus, vasculitis)
  • C8a and C8b deficiency (Neisserial infections, Systemic Lupus Erythematosus)
  • C9 deficiency (Neisserial infections)
  • C1-inhibitor deficiency (Hereditary Angio Edema)
  • Factor I deficiency (pyogenic infections)
  • Factor H deficiency (haemolytic-uraemic syndrome, membranoproliferative glomerulonephritis)
  • Factor D deficiency (Neisserial infections)
  • Properdin deficiency (Neisserial infections)
  • MBP deficiency (pyogenic infections)
  • MASP2 deficiency

Source: Wikipedia
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4 Responses to “Getting Your Swell Facts Straight”

  1. Marvin January 20, 2009 at 4:22 PM #

    You are such a wealth of information.

    • Faerie♥Kat January 20, 2009 at 4:24 PM #

      Ain’t I just? Betcha wanna turn me into a Martian, dontcha? Mwah!

      > [Original Message]
      >

  2. DANIEL March 4, 2009 at 7:50 PM #

    I THINK I HAVE THAT IDIOPATHIC TYPE. WHAT CAUSES IT. DO YOU THINK VACCINES IVE TAKEN BEFORE SOME HOW MUTATED MY GENES TO BEHAVE DEFICIENTLY! WHAT CAN I DO TO CURE IT.

    • Faerie♥Kat March 7, 2009 at 1:19 PM #

      Hi Daniel

      Nobody knows what causes Idiopathic Angio Edema; that’s why it’s called “idiopathic,” which means “of unknown origin.”

      I have never heard or read of a connection between IAE and vaccines, but I will be the first to acknowledge that I haven’t heard or read everything. I do know, however, that the FDA has just recently ruled there is no connection between vaccines and the occurrence of autism (as many people have been claiming).

      I suggest that you make an appointment with an immunologist with experience treating others with IAE for diagnosis and treatment (there is no cure) of your symptoms.

      Good luck,

      Kat

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