2023 FSA Podium and Poster Abstracts
P052: PERIOPERATIVE CONSIDERATIONS FOR A PATIENT WITH CONGENITAL AFIBRINOGENEMIA
Scott T Golden, DO1; Robert P Zusman, DO2; Joshua R Durbach, MD2; Jared A Herman, DO2; Mauricio Escobar, MD2; Gerald P Rosen, MD1; 1Nova Southeastern University College of Osteopathic Medicine; 2Mount Sinai Medical Center Department of Anesthesiology
Introduction/Background: Congenital afibrinogenemia is a rare autosomal recessive bleeding disorder, which is the result of a mutation which affects the concentration of fibrinogen in a patient’s plasma. Congenital Afibrinogenemia has an estimated incidence of one in every 1,000,000 births. The condition is characterized by either reduced amounts or the complete absence of fibrinogen (< 0.1g/L). It is vital for these patients to be optimized before undergoing surgical intervention.
Case Description: A 49-year-old male with a past medical history of congenital afibrinogenemia, hemorrhagic stroke, and end stage renal disease on peritoneal dialysis, presents with right lower quadrant pain, nausea and vomiting for five days. As an outpatient, he receives 1.5 g of fibrinogen every 10 days. Computed tomography (CT) abdomen revealed high grade small bowel obstruction secondary to incarcerated right lateral ventral hernia. On presentation, his coagulation studies were significantly deranged, with a prothrombin time (PT) of >100 seconds, international normalized ratio (INR) >13, and fibrinogen level of <60 mg/dl. The patient had a large, bloody bowel movement with a significant drop in hemoglobin from 12.7 to 7.7 g/dL. In the setting of emergent surgery, he was transfused with 4 units of cryoprecipitate, and 2 units of packed red blood cells. He underwent exploratory laparotomy with small bowel resection and primary ventral hernia repair with minimal blood loss. The patient tolerated the procedure well without complication. He remained hemodynamically stable throughout his hospital course and did not require any additional blood products.
Discussion/Conclusion: The clinical severity of congenital afibrinogenemia is highly variable. Prolonged bleeding from the umbilical cord is usually the first manifestation in 85% cases but close to 60% of patients are asymptomatic until later in life. Classic clinical presentations include epistaxis, mucosal bleeding, gastrointestinal bleeding, and excessive bleeding due to trauma. Females typically experience menorrhagia and spontaneous abortions during pregnancy. Afibrinogenemia has also been associated with poor wound healing and intracranial hemorrhage.
PT and activated partial thromboplastin time (aPTT) are prolonged in afibrinogenemia. Fibrinogen concentrations are typically less than 10 mg/dl and often undetectable in symptomatic individuals. Clinical bleeding due to afibrinogenemia is treated with fibrinogen replacement therapy to a level of greater than 100 mg/dl to maintain hemostasis. Replacement therapy is the mainstay of treatment of bleeding episodes in these patients and plasma derived fibrinogen concentrate is the first-line treatment. Cryoprecipitate and fresh frozen plasma are alternative treatments that are utilized when fibrinogen concentrate is not available. The usual starting dose for adults is 1-2 grams intravenously daily while the infusion rate should not exceed 5 ml/minute or 100 mg/minute.
To prevent excessive bleeding during surgical procedures, fibrinogen levels are raised with a prophylactic treatment targeting 100-150 mg/dl as the recommednation. Replacement should be continued for 4-14 days following surgery. Fibrinogen concentrate in blood takes 18 to 36 hours to reach its peak level following transfusion. A multidisciplinary team consisting of surgeons, hematologists, and anesthesiologists should be consulted for managing patients with Congenital Afibrinogenemia that require surgical intervention.