Snapshot A 23-year-old woman with past medical history of multiple allergies leading to facial swelling presents with marked difficulty breathing, abdominal pain, and swelling of the face and neck. On physical exam, her extremities are also noted to be markedly swollen (picture). She is immediately sedated for intubation to maintain patency of airway. Chart review reveals newly-started ACE-inhibitor. She is given epinephrine, fluids, and fresh frozen plasma. Introduction Disorder of complement, causing angioedema Genetics autosomal dominant Pathogenesis C1 esterase inhibitor deficiency C1 esterase inhibitor inhibits kallikrein-kinin pathway remember kallikrein activates bradykinin bradykinin ↑ vasodilation ↑ permeability ↑ pain ACE-inhibitors are contraindicated ACE inactivates bradykinin ACE-inhibitors allows ongoing bradykinin, causing angioedema Epidemiology attacks begin during childhood Risk factors family history of angioedema family history of those contraindicated with ACE-inhibitors autoimmune conditions Presentation Symptoms/physical exam recurrent episodes of angioedema without urticaria as opposed to anaphylaxis, which typically has urticarial angioedema of the face, oropharynx, extremities, or abdomen angioedema of GI tract severe abdominal pain GI upset worst at 24 hours resolves over 48-72 hours often preceded by prodrome fatigue flu-like symptoms not responsive to epinephrine (epi-pen) or antihistamines Evaluation Best initial test ↓ C4 and C2 levels if C4 are normal, C1 inhibitor deficiency is unlikely To confirm diagnosis if ↓ C4 ↓ C1 inhibitor antigenic levels ↓ C1 inhibitor functional levels Differential Diagnosis Anaphylaxis Allergic angioedema Facial cellulitis SVC syndrome Treatment Anaphylaxis presents very similarly to angioedema and often cannot be differentiated immediately in an emergency room setting therefore, patients are often initially treated with medications for anaphylaxis given urgent, life-threatening nature of anaphylaxis epinephrine fluid replacement anti-histamines Assess airway, even after administering treatment intubate if necessary As soon as possible, especially if epinephrine and anti-histamines are not effective, administer medications for hereditary angioedema plasma-derived C1 inhibitor recombinant human C1 inhibitor fresh frozen plasma if above are not available Prognosis, Prevention, and Complications Prognosis mortaliy >30% in those with laryngeal angioedema angioedema is unpredictable Complications small bowel obstruction compartment syndrome death by asphyxiation
QUESTIONS 1 of 4 1 2 3 4 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.IM.15.74) A 47-year-old male presents to the emergency department with facial swelling and trouble breathing. These symptoms began this morning and progressively worsened over the past several hours. Vital signs are as follows: T 37.7, HR 108, BP 120/76, RR 20, and SpO2 96%. Physical examination reveals nonpitting swelling of the face, hands, and arms as well as edema of the tongue and mucus membranes of the mouth and pharynx. The patient reports several episodes of mild facial swelling that occurred during childhood between the ages of 5-18, but he does not recall seeing a physician or receiving treatment for this. His medical history is otherwise negative, except for mild hypertension for which his primary care physician initiated lisinopril 2 weeks ago. This patient most likely has which of the following underlying abnormalities? QID: 106671 Type & Select Correct Answer 1 MHC class I deficiency 6% (4/69) 2 Defective lysosomal storage proteins 4% (3/69) 3 Lack of NADPH oxidase 0% (0/69) 4 Defect in cytoskeletal glycoprotein 1% (1/69) 5 Deficiency of C1 esterase inhibitor 83% (57/69) M 1 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 5 Review Tested Concept Review Full Topic (M1.IM.14.21) A 23-year-old female presents to the emergency room with diffuse swelling. Her boyfriend is especially concerned because her face has begun to swell (Figure A). Her tongue is also swollen and she is beginning to have trouble breathing. If her symptoms are due to a congenital syndrome and not a medication side effect, which of the following would be true regarding this patient's disease? QID: 104232 FIGURES: A Type & Select Correct Answer 1 Caused by deficiency in C1 esterase inhibitor 77% (99/129) 2 Caused by deficiency in C3 6% (8/129) 3 Caused by deficiency in C5-C8 6% (8/129) 4 Caused by deficiency in decay accelerating factor 4% (5/129) 5 Danazol is contraindicated in this disease as it may worsen symptoms 4% (5/129) M 1 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review Tested Concept Review Full Topic