HSHS St. Mary's Hospital Medical Center GREEN BAY, WI
Kwabena O. Adu-Gyamfi, MD1, Shirley Tetteh, MD2, Chaitanya Pant, MD3, Richmond Gyamfi, MD1; 1HSHS St. Mary's Hospital Medical Center, Green Bay, WI; 2HSHS St. Vincent Hospital, Green Bay, WI; 3Prevea Gastroenterology, Green Bay, WI
Introduction: Hereditary angioedema (HAE) is an autosomal dominant genetic disorder associated with recurrent attacks of angioedema. It may involve the gastrointestinal (GI) tract, skin and the respiratory tract, causing significant morbidity and if not managed properly, fatality. We present a case of abdominal pain due to hereditary angioedema, where the diagnosis was initially suspected based on CT scan findings. Increasing awareness of HAE will facilitate accurate diagnosis and effective management.
Methods: A 26-year-old man with history of alcohol abuse presented with a 1-day history of severe epigastric pain with vomiting. Vital signs were normal. He had moderate generalized abdominal tenderness. Labs noted WBC of 18.7x 103 (3.8-10.7). Lipase and rest of basic labs were normal. CT scan of abdomen/pelvis noted extensive edema of the gastric wall (Figure 1) and small bowel (Figure 2). Further questioning revealed a prior diagnosis of hereditary angioedema in his mother. He had low levels of complement 4(C4) - 2.7mg/dl (10-40). He was managed with IV Fluids and analgesics. All symptoms resolved within 48 hours. He was discharged in stable condition for outpatient allergist follow up. Further workup noted low C2 at < 1.3 mg/dl (1.6-3.3), quantitative C1 esterase inhibitor (C1EI) -6mg/dl (21-39), and functional C1EI -52% ( >68%), confirming diagnosis of hereditary angioedema Discussion: Hereditary angioedema affects about 1 in 50,000 of the population. It is caused by a mutation in the gene that makes the C1 inhibitor protein (Types I and II) or the factor XII gene (Type III). This leads to increased amounts of bradykinin, causing episodic mucocutaneous swelling. GI tract involvement may cause varying degrees abdominal pain or even bowel obstruction from bowel edema, but is usually self-limiting in 4 days. Respiratory tract swelling may cause fatal asphyxiation. A family history of angioedema and low complement and C1 esterase inhibitor levels are useful for diagnosis. Management is supportive for mild cases. In severe cases or in those with respiratory involvement, C1 esterase inhibitor concentrate, fresh frozen plasma, or medications which block production or function of bradykinin such as icatibant or ecallantide may be given. HAE is seldom encountered in clinical practice but associated abdominal pain may lead to unnecessary GI endoscopy or surgical exploration. Unrecognized disease may also lead to detrimental complications so HAE should be considered in the appropriate clinical setting
Fig 1. Abdominopelvic CT with contrast. Axial View showing extensive edema of gastric wall and mucosal folds (arrows).
Fig 2. Abdominopelvic CT with contrast. Axial view showing extensive small bowel wall edema (arrows).
Disclosures: Kwabena Adu-Gyamfi indicated no relevant financial relationships. Shirley Tetteh indicated no relevant financial relationships. Chaitanya Pant indicated no relevant financial relationships. Richmond Gyamfi indicated no relevant financial relationships.