Case Presentation: A 28-year-old Caucasian male of European descent presented to the emergency department with a four day history of left upper quadrant abdominal pain that occurred following a day of skiing at 11,000 feet. On initial examination, he was afebrile, hemodynamically stable, and in distress from abdominal pain that localized to his left upper quadrant. His complete blood count was notable for a mild normocytic anemia of 11.9 gm/dL. His renal function and liver function were normal. His D-Dimer was elevated to 2.39 mcg/mL. He subsequently underwent a CT of his chest, abdomen, and pelvis which revealed the presence of multiple splenic infarcts and mild splenomegaly. EKG did not reveal arrhythmia. TTE was negative for cardiac valvular vegetation. His LDH was noted to be elevated at 374 u/L, with a haptoglobin of < 1%, and a reticulocyte index of 2.26 indicating red cell turnover. Direct Coombs test was negative. He was admitted for pain control and started on anticoagulation due to his clot burden and discharged home. At the time of follow up, hypercoagulable workup including lupus anticoagulant screen, anti-cardiolipin antibodies, and beta-2 glycoprotein antibodies were negative. Testing for Factor V Leiden (R506Q), JAK2 (V617F), and prothrombin gene mutations were negative. Hemoglobin electrophoresis revealed the presence of HgbS 39.5%, supporting the diagnosis of sickle cell trait. Anticoagulation was discontinued after three months.
Discussion: Sickle cell trait is characterized by the inheritance of one variant allele for sickle hemoglobin. The phenotype is typically benign due to the presence of one normal hemoglobin allele. A rare complication of the disorder is splenic infarction induced by states of hypoxia. This phenomenon has been described in case reports with the majority of patients being African-American males. Here, we describe a case of a newly diagnosed splenic infarction in a previously healthy Caucasian male following a ski trip at high altitude. A hypercoagulable workup ensued which revealed the presence of sickle cell trait. Treatment for splenic infarction most commonly is supportive care and anticoagulation has been used if there is high propensity for future clots based on the etiology or if the patient is symptomatic based on the clot burden.
Conclusions: Splenic infarction can be a rare presentation of sickle cell trait induced by high altitude or dehydration. The estimated incidence of sickle cell trait is 3 per 1000 white newborns in the United States and therefore it should be considered a potential cause of splenic infarction regardless of a patient’s race as illustrated in this case. Patients should be counseled to avoid triggers and expect to live a normal life.
