Current Clinical Strategies Publishing Home | Table of Contents
January, 1999--Volume 324, Number 14, pp 891-1047
|
Thomas J. Tsou, MD, FACEP
Director of Pediatric Emergency Medicine |
Mark D. Dixon, MD
Assistant Program Director, Emergency Medicine Department |
Bolanile Akinwole, MD
Assistant Professor, Emergency Medicine Department |
|
Mahmoud Nouh, MD
Assistant Professor, Emergency Medicine Department |
Eugene Hardin, MD, FACEP
Chairman, Emergency Medicine Department |
Two cases of hereditary angioedema and one of acquired angioedema are reported because of their unusual emergency department presentations. Case one is a 27-year-old man of Italian descent who visited the ED because of severe abdominal pain. He subsequently underwent an unnecessary appendectomy. Case two is a 56-year-old Caucasian man who presented to the ED because of shortness of breath, and, subsequently, he developed severe airway obstruction and was intubated. Case three is a 68-year-old black women with a history of chronic lymphocytic leukemia in remission. She was brought into the ED because of severe shortness of breath and had an emergent cricothyrotomy was performed in the ED because of upper airway obstruction and an inability to be intubated.
Hereditary angioedema has been known to exist for over a century. It is only within the last 30 years, however, that the disease has been attributed to a C1 esterase inhibitor deficiency, transmitted as an autosomal dominant condition. Hereditary angioedema is episodic and asymptomatic in most patients. Recently, an acquired form of angioedema has been described in patients with underlying malignancies (such as lymphocytic leukemia), collagen vascular disease, or who have developed C1 esterase inhibitor autoantibodies.
Hereditary and acquired angioedema are characterized by recurrent episodes of angioedema involving any part of the body. Laryngeal edema is common, and it is the major cause of death. Angioedema of the gastrointestinal tract frequently may mimic an acute abdomen, resulting in unnecessary surgery. The emergency physician should be aware of these conditions and should initiate prompt treatment in order to avoid unnecessary morbidity and death.
A 28-year-old Italian man was brought to the ED because of abdominal pain. The pain had a sudden onset and had been present for approximately one hour. He had five episodes of vomiting and loss of appetite. There was no fever, diarrhea, melena, hematochezia, or hematemesis. He denied chest pain, and he had no history of dysuria, frequency, urgency, or hematuria. He reported a past medical history of frequent episodes of abdominal pain, especially after aggressive exercise or stress. He denied alcohol or recent aspirin use. The patient's father died after the sudden onset of abdominal pain of unknown cause at age 52, and he also had frequent episodes of acute abdominal pain.
The patient's vital signs consisted of a blood pressure of 120/60 mmHg (without orthostatic changes), pulse 95, respirations 12, and oral temperature 37.5°C. His skin was warm and dry without cyanosis, rash, or decreased turgor. His head was atraumatic, external auditory canals were clear, and tympanic membranes were intact. The lungs were clear to auscultation, and breath sounds were equal bilaterally. The cardiac examination demonstrated a regular rate and rhythm without murmurs. The abdomen was moderately distended with decreased bowel sounds, and diffuse abdominal tenderness associated with slight rebound and guarding. No flank tenderness or ecchymoses were present. Stool was guaiac negative, and the rest of the physical exam was within normal limits.
The CBC, Chemistry 20, and urinalysis were all within normal limits. Chest and abdominal radiography revealed no abnormalities. General surgery was consulted and a diagnosis of an acute abdomen was made. The patient underwent exploratory laparotomy which revealed swollen bowel. An appendectomy was performed, however, the pathology report revealed that the appendix was normal. The patient had an unremarkable recovery and he was later referred to an allergist who diagnosed hereditary angioedema. Subsequently, the patient was started on androgen hormone maintenance therapy.
A 56-year-old Caucasian man was brought into the ED because of shortness of breath and a swollen throat. He had a non-productive cough without congestion or fever. There were no known precipitating events. On presentation he had severe shortness of breath and denied palpitations, chest pain, vomiting, or diarrhea. The patient had a history of episodes of swollen hands while in the armed services, and several years prior, he frequently visited the ED for throat swelling, and had been treated with epinephrine and diphenhydramine. He eventually was referred to an allergist/immunologist and diagnosed with hereditary angioedema. Androgen hormone therapy were initiated, which had controlled his laryngeal edema for the previous five years.
His physical examination revealed that his head, ears, and nose were normal. His tongue was swollen. His neck was supple, nontender, and without lymphadenopathy. Stridor was noted. The cardiac examination demonstrated tachycardia and a regular rhythm. The abdomen was soft and nontender, with normoactive bowel sounds. Extremities were without edema. The skin was warm, dry and without rash, and he was neurologically intact.
Laryngoscopy revealed severe upper airway obstruction, and he was intubated in the ED. Diagnostic chest radiography revealed no abnormalities. The patient was admitted to the ICU and treated with IV fluids, methylprednisolone 125 mg IV and diphenhydramine 50 mg IV every 6 hours. After 12 hours he had complete resolution of his upper airway obstruction and was extubated. He was discharged from the hospital after being cleared by an allergist/immunologist, and androgen hormone therapy was resumed at an increased dosage.
A 68-year-old black woman was brought into the ED by paramedics with complaints of a swollen throat and tongue, associated with severe shortness of breath for 30 minutes in duration. She had no cough, congestion, or fever. There was no chest pain, palpitations, vomiting, or diarrhea. There were no known precipitating events. The patient's medical history revealed that she had chronic lymphocytic leukemia, and the leukemia was currently in remission. She had previously been admitted to another university medical center for laryngeal edema with acute upper airway obstruction. At that facility, the physicians were unable to intubate her and an emergency cricothyrotomy was performed.
Vital signs consisted of a blood pressure of 130/80 mmHg, pulse 110, respirations 25, and an oral temperature of 98° F. Her skin was warm, dry and without rash. The head, ears, and nose revealed no abnormalities. The throat and tongue were markedly swollen with a severe degree of upper airway obstruction and stridor. The neck was supple, nontender, and without lymphadenopathy. Cardiovascular exam revealed a regular rate and rhythm without murmurs. The abdomen was nontender and otherwise unremarkable. Extremities were without edema, and she was neurologically intact.
The patient was intubated in the ED. Chest radiography revealed no abnormalities. Normal saline was initiated at a rate of 200 cc per hour, and she was treated with epinephrine 0.3 cc SC, diphenhydramine 50 mg IV, and methylprednisolone 125 mg IV without response. An allergist/immunologist was subsequently consulted during her hospital stay and acquired angioedema was diagnosed. The patient had a full recovery and was discharged home on androgen maintenance therapy.
Discussion
Early recognition of hereditary and acquired angioedema in the ED is important because significant iatrogenic morbidity may result if the diagnosis is not established. The diagnosis of these disorders is aided by a detailed past medical and family history. Hereditary and acquired angioedema are clinically characterized by recurrent episodes of angioedema involving any part of the body. Urticaria is not a feature of these diseases; however, laryngioedema is common, and the major cause of death. Angioedema involving the GI tract may mimic an acute abdomen, resulting in unnecessary surgery and increased morbidity. Hereditary angioedema is inherited as an autosomal dominant condition for which there are two forms. One form is manifest by the absence of C1 esterase inhibitor, and the other form is manifest by normal levels of C1 esterase inhibitor, but the enzyme is dysfunctional. The absence of, or dysfunction of, C1 esterase inhibitor allows uncontrolled activation of the complement cascade, resulting in angioedema. The diagnosis is usually established by a family history of angioedema in a symptomatic patient, and the diagnosis is confirmed by biochemical C 1 esterase inhibitor deficiency or functional deficiency.
Acquired forms of angioedema are associated with an underlying hematologic malignancy or immune complex disease, resulting in activation of C1Q in the complement cascade. The acquired and hereditary forms can be differentiated from each other by quantification of C1Q levels. The C1Q level in the hereditary form is normal, and the level is low in the acquired form. Life-threatening acute attacks of angioedema do not generally respond to epinephrine, antihistamines, or steroids. Treatments of hereditary and acquired angioedema in the ED consist of supportive therapy with IV fluids, analgesics, and airway management. A purified inhibitor preparation of C1 esterase inhibitor is not yet available in the United States. Fresh frozen plasma is an alternative therapy which is generally effective, but it has the potential disadvantage of causing temporary aggravation of symptoms because C2 and C4 levels transiently increase before the angioedema is brought under control. Therapy with fresh frozen plasma or purified inhibitor preparation should be administered early on in an attempt to avoid unnecessary intubation, cricothyrotomy, or surgery. Patients recognized as having hereditary angioedema may be placed on androgen hormone therapy in order to increase hepatic synthesis of C1 esterase inhibitor. Other effective maintenance therapies include epsilon amino caproic acid and tranexamic acid, which inhibit plasmin activation for long-term prophylactic management.
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