hereditary angioedema (hae)

8/12/2019 Hereditary Angioedema (HAE)

1/18

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Morning ReportKyleen Carpenter 2/7/14

Another teenager with abdominal pain


2/18

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


3/18

In the ED, received morphine and ondansetron,NS bolus of 1 L then started on maintenanceIVFs.

In the ED


4/18

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


5/18

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


6/18

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


7/18

???

Differential Diagnosis


8/18

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


9/18

???

Work Up


10/18

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


11/18

CT abdomen: Mild diffuse increased asciteswith diffuse symmetric circumferential small

bowel wall thickening with edema. Noadenopathy.

Imaging


12/18

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)


13/18

Angioedema that is not histamine related

Complement Pathway


14/18

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


15/18

Types I and II start having symptoms inchildhood

Type III occurs in the second decade of life,usually after puberty

Types of HAE


16/18

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


17/18

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


18/18

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

hereditary angioedema (hae)

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