Abstract
Hereditary angioedema (HAE) is a rare autosomal dominant disease most commonly associated with defects in C1 esterase inhibitor (C1-INH). HAE manifests as recurrent episodes of edema in various body locations. Atypical symptoms, such as ascites, acute respiratory distress syndrome, and hypovolemic shock, have also been reported. Management of HAE conventionally involves the treatment of acute attacks, as well as short- and long-term prophylaxis. Since attacks can be triggered by several factors, including stress and physical trauma, prophylactic therapy is recommended for patients undergoing surgery. Human plasma-derived C1-INH (pdC1-INH) concentrate is indicated for the treatment of both acute HAE attacks and pre-procedure prevention of HAE episodes in patients undergoing medical, dental, or surgical procedures. We report the first case of a patient with HAE who experienced an abdominal attack precipitated by a retroperitoneal bleed while being converted from warfarin to heparin in preparation for surgery. Subsequently, the patient had a protracted course in hospital with other complications, which included hypovolemic shock, ascites, severe sepsis from nosocomial pneumonia, renal and respiratory failure. Despite intensive interventions, the patient remained in a critical state for months; however, after a trial of daily intravenous infusion of pdC1-INH concentrate (Berinert®, CSL Behring GmbH, Marburg, Germany), clinical status improved, particularly renal function. Therefore, pdC1-INH concentrate may be an effective treatment option to consider for critically-ill patients with HAE.
Highlights
Hereditary angioedema (HAE) is an autosomal dominant genetic disease affecting approximately 1 in 50,000 people worldwide, with no ethnic differences reported [1]
A new classification system has been described for angioedema and this case report focuses on hereditary angioedema with C1 esterase inhibitor (C1-INH) deficiency [2]. This rare disease is due to a mutation in one of the alleles of the C1-INH gene, SERPING1, which results in reduced plasma levels of C1-INH and dysregulation of
Given the role of C1-INH in various pathways and tremendous physiologic stress of this patient’s lengthy stay in the intensive care unit (ICU), it is likely that HAE was inadequately controlled, resulting in multiple relapses in this context of critical illness
Summary
Hereditary angioedema (HAE) is an autosomal dominant genetic disease affecting approximately 1 in 50,000 people worldwide, with no ethnic differences reported [1]. We describe the use of pdC1-INH concentrate (Berinert®) in a patient with HAE with comorbidities who developed major complications prior to scheduled heart surgery, including retroperitoneal bleed, hypovolemic shock, ascites, severe sepsis from nosocomial pneumonia, renal and respiratory failure. Patient history This case report involves a 51-year-old man with type I HAE, who first developed symptoms in his late teens. Despite 2 months of optimal intensive care unit (ICU) interventions including renal dialysis, assisted ventilation, antibiotic therapy, blood transfusions, daily danazol (200 mg), and very conservative intermittent pdC1-INH concentrate, the patient remained in critical condition and the decision to terminate his life was considered. The patient regained his full strength after further reconditioning and returned home 4 months after being admitted for aortic aneurysm repair
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