hereditary angioedema (hae)
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Morning ReportKyleen Carpenter 2/7/14
Another teenager with abdominal pain
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YC is a 15-yo previously-healthy female, whop/w 1 week of abdominal pain. The pain isintermittent, worsening since yesterdayevening, along with vomiting. Starts as an ache,turns to sharp and stabbing. Epigastric,radiates throughout abdomen. First episodeoccurred 10 months earlier. Has happened 3times, lasts 5-7 days. Vomiting occurs aftereating/drinking, looks like whatever sheingested.
HPI
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In the ED, received morphine and ondansetron,NS bolus of 1 L then started on maintenanceIVFs.
In the ED
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Home Meds: OCP, Zyrtec prn, Potassiumsupplement prn muscle cramps
NKDA PMHx: Seasonal allergies, eczema, acne
PSHx: none
Social Hx: Lives with mother. Has a dog.Denies tobacco use, drug use, and sexual
activity. FHx: Mother hereditary angioedema, lactose
intolerance. MGM and PGM DM type 2
Immunizations: UTD
History
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Feels hot before vomiting
Occasional pre-syncope that resolves withsitting
Decreased appetite x 2 days. No associationwith food, menstruation, or stress. No diarrhea,
bloody, or pale stools. Normal BMs.
Achy pain in lower abdomen, no increasedfrequency, no dysuria
Occasional swelling of hands or bottom lip.
ROS
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VS: T 36.8, HR 98, RR 20, BP 142/86, SaO2 97% on RA,Wt 61.8 kg
General: Awake, alert, appears tired and
uncomfortable, but NAD. Well nourished, welldeveloped. HEENT: Clear conjunctivae, slightly dry mucus
membranes, OP clear, neck supple, no LAD Resp: CTAB CV: RRR, no murmurs
Abd: soft, diffusely tender, rebound tenderness oflower quadrants, no distension, no guarding. +BS, noHSP. No CVA tenderness.
Ext: warm, CR < 2 sec, strong pulses, no c/c/e Skin: no rashes, skin is dry
Physical Exam
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???
Differential Diagnosis
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GI: Crohnsdisease Celiac disease
Eosinophilic enteritis Pancreatitis Peptic ulcer disease Mesenteric Lymphadenitis
ID: UTI Acute gastroenteritis Strep pharyngitis
Gyn: Ruptured ovarian cyst Endometriosis Ectopic pregnancy PID
Ovarian torsion
Heme/Onc Intestinal lymphoma
Carcinoid Pheochromocytoma Acute porphyrias
Rheum: SLE Systemic vasculitis Hereditary angioedema
Neuro: Abdominal migraines
Trauma GU:
Nephrolithiasis
Differential Diagnosis
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???
Work Up
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hCG negative WBC 16, Hgb 16, Hct 48, Plts 335, diff 87N ESR 0 CRP 3.2 Lipase 41 CMP unremarkable, except K 5.5 UA wnl Next day: Amylase 160, Lipase 421 C3 127 (normal) C4 16 (normal) C1 esterase inhibitor function 62% (indeterminate) C1 esterase inhibitor 26 (normal) ANA < 1:40 (normal)
Labs
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CT abdomen: Mild diffuse increased asciteswith diffuse symmetric circumferential small
bowel wall thickening with edema. Noadenopathy.
Imaging
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Non-inflammatory swelling of skin andmucous membranes
Subcutaneous tissues Abdominal organs
Upper airway and tongue
12-24 hours, resolves in 72 hours
Women tend to have more severe attacks
May have prodrome: tingling, mood change,sensory, fatigue, trauma
There are 3 types
Hereditary Angioedema(HAE)
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Angioedema that is not histamine related
Complement Pathway
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Type I:
Low C1 esterase inhibitor
Low C4 and C2 Normal C1q
Type II: Normal or elevated, but dysfunctional C1-INH Low C4 and C2 Normal C1q
Type III:
Normal C1-INH level and functional assay C4 may be normal Factor XII mutation may be present Genetic testing exists
Autosomal dominant
3 Types of HAE
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Types I and II start having symptoms inchildhood
Type III occurs in the second decade of life,usually after puberty
Types of HAE
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Abdominal x-ray: may see evidence of ileusduring attacks
Chest x-ray: may see pleural effusions
Abdominal US or CT: thickening of intestinalwall, fluid layer around bowel, free peritonealfluid
Imaging for HAE
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C1-INH concentrate
Kallikrein inhibitor: during attacks unregulatedkallikrein leads to lots of bradykinin whichleads to swelling
Selective bradykinin B2 receptor antagonist:
approved for adults only C1-INH concentrate is not effective for Type III
Management AcuteAttacks
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Attenuated androgens not for children Antifibrinolytics (aminocaproic acid)
Prophylactic treatment prior to dental work orsurgeries
Prior to available treatments, mortality was 20-30%
Management -Prophylaxis
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