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Print this pageHAE Glossary
Acquired Angioedema-- Acquired angioedema (AAE) also known as acquired C1 inhibitor deficiency. Usually starts in the fourth decade of life. There are 2 forms: of acquired angioedema--type I (AAE-I) and acquired angioedema type II (AAE-II). AAE-I is associated with other diseases, most commonly B-cell lymphoproliferative disorders. AAE-II is an autoimmune process defined by the presence of an autoantibody directed against the C1 inhibitor molecule (C1-INH).
Angiotensin Converting Enzyme Inhibitors (ACE Inhibitors)-- a group of pharmaceuticals that are used primarily in treatment of hypertension and congestive heart failure, in most cases as the drugs of first choice.
Antifibrinolytic-— A substance, such as aminocaproic acid, that decreases the breakdown of fibrin.
Autosomal dominant-- A gene on one of the non-sex chromosomes that is always expressed, even if only one copy is present. The chance of passing the gene to offspring is 50% for each pregnancy.
B2 Bradykinin receptors -- The B2 bradykinin receptor is constitutively active and participates in the peptide�s vasodilatory role (Bradykinin is a potent endothelium-dependent vasodilator, that is released from the venules and causes contraction of non-vascular smooth muscle, increases vascular permeability and also is involved in the mechanism of pain)
B2 Bradykinin receptor antagonist-- designed to prevent bradykinin from binding to its constituent receptor. Icatibant is synthetic decapeptide second generation bradykinin B2 receptor antagonist that has undergone phase 3 human testing for attenuating attacks of HAE
Bradykinin-- is a potent endothelium-dependent vasodilator, that is released from the venules and causes contraction of non-vascular smooth muscle, increases vascular permeability and also is involved in the mechanism of pain
C1 Inhibitor-- an alpha-2-globulin that is synthesized in the liver, and member of the serpin family of serine protease inhibitors. It is the only inhibitor of C1r and C1s, the classical complement pathway proteases. It also regulates kinin generation via inactivation of factors XIIa and plasma kallikrein, and intrinsic coagulation via inactivation of factor XIa.
Cl Inhibitor Antigenic-— Quantitative levels of C1 inhibitor.
C1 Inhibitor deficient mice-- Researchers knocked out the C1 inhibitor gene and generated homozygous- and heterozygous-deficient mice. Injection with Evans blue dye revealed increased vascular permeability in C1 inhibitor knockout mice compared with wild-type littermates. Data generated by studying C1 inhibitor deficient mice supports the hypothesis that angioedema is mediated by bradykinin via Bk2R. (see Han et. al. J. Clin. Invest. 109:1057�1063 (2002)
C1 inhibitor functional-— Functional levels of C1 inhibitor.
C1q-- is a subunit of the C1 enzyme complex that activates the serum complement system. Low C1q could indicate a diagnosis of acquired angioedema.
C1r, C1s, MASP's, factor X11a, kallikrein, tissue plasminogen activator-- NEED DEFINITION
C2 kinin-- a vasoactive peptide generated by cleavage of the C2b fragment by plasmin. Early HAE research postulated that a C2 kinin may be involved in angioedema formation, but most investigators now believe the vasoactive peptide bradykinin is the primary mediator of angioedema attacks
C4-- Quantitative levels of the fourth component of complement
C4 antigenic levels-— Quantitative levels of the fourth component of complement.
Compazine— a phenothiazine medication that works by affecting the balance of neurotransmitters in the brain to reduce nausea and the urge to vomit.
Complement System-- a group of more than 20 serum proteins, some of which can be serially activated and participate in a cascade resulting in cell lysis; the complement system also functions in chemotaxis, opsonization, and phagocytosis.
Contact System-- also known as the kallikrein-kinin generating system. The plasma proteins involved in the contact system are the proenzymes prekallikrein, factor XII (FXII or Hageman factor), and the non-enzymatic co-factor high molecular weight kininogen (HK). FXII autoactivates in the presence of negatively charged macromolecules like proteoglycans. Activated factor XII (FXIIa) then converts prekallikrein to kallikrein, which in turn digest HK to release bradykinin. Bradykinin binds to receptors on nearby endothelial cells causing vasodilatation and increased capillary permeability.
Danazol-—an anabolic steroid used for HAE prophlyaxis.
De novo mutation--An alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself.
Endothelial Cells-- a simple squamous layer of cells that line the interior surface of blood vessels, forming an interface between circulating blood in the lumen and the rest of the vessel wall. Endothelial cells are involved in many aspects of vascular biology including vasoconstriction and vasodilation.
Erythematous-- Redness of the skin due to capillary dilation.
Fibrinolytic System-- Fibrinolysis is the process where a fibrin clot, the product of coagulation, is broken down. Its main enzyme, plasmin, cuts the fibrin mesh at various places, leading to the production of circulating fragments that are cleared by other proteinases or by the kidney and liver
FXII-- activated factor XII (also referred to as Hageman factor) is a contact system protease that is inactivated by C1 inhibitor.
Hepatic adenoma-— Benign liver cell tumors.
Hepatoxicity-— a state of toxic damage to the liver.
Histamine--a compound--C5H9N3--that causes dilatation of capillaries, contraction of smooth muscle, and stimulation of gastric acid secretion, that is released during allergic reactions, and that is formed by decarboxylation of histidine
kinin-- see definition for contact sytem
Morphine— a potent opioid analgesic, chemically, morphine sulfate is 7,8-didehydro-4,5 -epoxy-17-mtehyl-morphinian-3, 6 -diol sulfate(2:1)(salt)pentahydrate.
Nonwhealing-— skin condition that is neither raised nor itchy.
Oxandrolone-- an anabolic steroid used for HAE prophlyaxis.
Peptide-- any of a class of compounds of low molecular weight that yield two or more amino acids on hydrolysis; known as di-, tri-, tetra-, (etc.) peptides, depending on the number of amino acids in the molecule. Peptides form the constituent parts of proteins.
Phenergan-— an antihistame that is also used to treat nausea and vomiting or pain, and as a sedative or sleep aid.
Plasmin-- a fibrinolytic enzyme inactivated by C1 inhibitor
Prodrome-- An early symptom indicating the onset of an attack or disease.
Substrates-- The material or substance on which an enzyme acts.
Transcription--the process through which a DNA sequence is enzymatically copied by an RNA polymerase to produce a complementary RNA.
Urticaria--circumscribed and pruritic areas of raised erythema and edema of the superficial dermis. Urticaria occurs following release of histamine, bradykinin, kallikrein, and other vasoactive substances from mast cells and basophils, resulting in intradermal edema from capillary and venous vasodilation and occasionally from leukocyte infiltration.
Vascular Permeability-- a phenomenon affecting blood vessel relaxation or contraction. Relaxation leads to extravasation
Vasoactive-- a phenomenon affecting blood vessel relaxation or contraction. Relaxation leads to extravasation.
Virilization-— Signs of masculinization that include increased body or facial hair, change in voice, clitoral enlargement and male-type baldness.
Zofran-— generic name—Ondansetron--a selective 5-HT3 receptor antagonist that is used prevent nausea and vomiting
