Disease Information for Angioedema/Angioneurotic edema, hereditary

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Clinical Manifestations
Signs & Symptoms
Edema Children
Edema face/lip
Non-pruritic urticaria
Abdominal Pain
Abdominal Pain Crampy
Abdominal Pain in Adolescent
Abdominal Pain in Children
Chronic Abdominal Pain
Recurrent Abdominal Pain
Swollen lips
Edema of Lower Extremities
Noisy Breathing
Hoarseness
Itchy palate/throat
Stridor (Inspiratory noise)
Stridor infant Child
Voice Alteration
Voice Alteration in Children
Voice change/disturbance/Unusual
Acutely ill patient/signs
Bilateral Eyelid Edema
Periorbital edema/Puffy eyes
Disease Progression
Course/Acute
Course/Attacks Episodic Spells
Course/Chronic disease crisis/flare/attacks
Course/Chronic disorder
Course/Recurrent
Course/Relapsing
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Angioedema/asphyxia
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Decreased
C1-esterase inhibitor titer (Lab)
C4, serum (Lab)
Complement 1 Inhibitor (LAB)
Abnormal Lab Findings - Increased
URINE Histamine
Diagnostic Test Results
X-RAY With contrast
SBS/Valvulae conniventes thickened (Xray)
Associated Diseases & Rule outs
Rule Outs
Anaphylaxis, generalized
Angioedema/angioneurotic edema
Croup (tracheobronchitis)
Epiglottitis, acute
Associated Disease & Complications
Airway obstruction
Airway obstruction/Children
Anaphylaxis, generalized
Angioedema/angioneurotic edema
Asphyxia/suffocation
Chronic hives/urticaria
Edema
Subglottid edema
Upper airway Obstruction
Urticaria/hives
Disease Mechanism & Classification
Class
CLASS/Spleen/thymus/RES/immune system (category)
Pathophysiology
Pathophysiology/Autoinflammatory (non-immune)
Pathophysiology/Gene locus 11q11-q13.1
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Process
PROCESS/Episodic disorder (ex)
PROCESS/Hereditofamilial (category)
Synonyms
Synonym
angioedema hereditary, ANGIOEDEMA HEREDITARY TYPE I, angioneurotic edema hereditary, Bannister hereditary, C 1 esterase inhibitor deficiency, C 1 esterase inhibitor deficiency syndrome, C1 esterase inhibitor defic, C1 esterase inhibitor deficiency, C1 ESTERASE INHIBITOR DEFICIENCY OF, C1 inhibitor deficiency, complement esterase deficiency, deficiency C1 esterase inhibitor, edema angioneurotic hereditary, edema Quincke hereditary, HAE, HAE Hereditary angio edema, HAE Hereditary angio oedema, HAE Hereditary angioedema, HANE, HANE Her angioneurot edema, HANE Her angioneurot oedema, HANE Hereditary angioneurotic edema, HANE Hereditary angioneurotic oedema, Hereditary angio edema, Hereditary angio oedema, hereditary angioedema, hereditary angioneurotic edema, Hereditary angioneurotic edema (disorder), Hereditary angioneurotic oedema, hereditary Bannister, hereditary Quincke, Hereditary Quincke's edema, Hereditary Quincke's oedema, Quincke edema hereditary, Quincke hereditary, Synonym/C1-esterase inhibitor deficiency synd, Synonym/Hereditary angioedema, Synonym/Hereditary angioedema syndrome
Treatment
Drug Therapy - Indication
RX/C1 Esterase Inhibitor (Berinert/Cinryze)
RX/C1 Inhibitor (Cinryze)
RX/Danazol (Danocrine)
RX/Icatibant (Firazyr)
RX/Pooled plasma C1-esterase inhibitor
RX/Stanozolol (Wintrol)
Definition

C1 esterase inhibitor deficiency hereditary; recurrent angioedema [angioneurotic edema]; asphyxia occurs; no definitive treatment but usual antihistamines, epinephrine and steroids are employed for acute episodes------------------------.Angioedema, Hereditary ; Angioneurotic Edema, Hereditary C1-INH ; C1NH ; Complement Component 1 Inhibitor Deficiciency Complement Component C1, Regulatory Component Deficiency; Esterase Inhibitor Deficiency; HAE; HANE; C1 Esterase Inhibitor Deficiency, Type I, Angioedema.

Discussion: Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway; Usually, this swelling is not accompanied by itching, as it might be with an allergic reaction. Swelling of the gastrointestinal tract leads to cramping. Swelling of the airway may lead to obstruction, a potentially very serious complication; These symptoms develop as the result of deficiency or improper functioning of certain proteins that help to maintain the normal flow of fluids through very small blood vessels (capillaries); In some cases, fluid may accumulate in other internal organs; The severity of the disease varies greatly among affected individuals;The most common form of the disorder is hereditary angioedema type I, which is the result of abnormally low levels of certain complex proteins in the blood (C1 esterase inhibitors), known as complements. They help to regulate various body functions (e.g., flow of body fluids in and out of cells); Hereditary angioedema type II, a more uncommon form of the disorder, occurs as the result of the production of abnormal complement proteins[NORD 2005]

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NEJM (The New England Journal of Medicine)
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