C51-07 Deadly Complication of a Single Mutation: Nontraumatic Cerebral Fat Embolism in Sickle Cell Disease

Cerebral Fat Embolism (CFE) is a devastating complication of sickle cell disease which carries a high mortality without prompt recognition and treatment. 55-year-old male with past medical history of sickle cell disease and asthma presented with sharp midline chest pain of two-day duration. He reported associated cough and difficulty breathing. He was afebrile on presentation with a blood pressure of 144/78 mmHg saturating 94 on room air. Physical examination was significant for scleral icterus. Labs were significant for total bilirubin 4.8 mg/dL, direct bilirubin 0.5 mg/dL, LDH 2,356 IU/L, haptoglobin less than 10 mg/dL, lactate 1.6 mmol/L, troponin 23 ng/L, hemoglobin 10.2 g/dL platelets 150 B/L. Liver function test and coagulation panel were within normal limits. EKG showed normal sinus rhythm with left anterior fascicular block. Chest x-ray showed moderate cardiomegaly with mild vascular congestion. Abdominal ultrasound showed cholelithiasis without evidence of acute cholecystitis or biliary obstruction. The patient was started on maintenance of IV fluids as well as dilaudid PCA for pain management. Overnight, he experienced worsening lethargy, hypoxia and tachypnea requiring intubation. CT head showed no acute intracranial abnormalities. CT chest showed bilateral lower lobe opacities suggesting pneumonia. Follow up MRI brain showed multiple acute cerebral infarcts clustered in the frontal and parietal cortices towards the convexities. MRA head and neck revealed no detectable stenosis. Echocardiogram showed patent foramen ovale with right-to-left shunting by saline contrast injection both at rest and with Valsalva [Figure 1]. The patient received multiple exchange transfusions, plasma exchanges, and a course of high dose steroids. His clinical status was highly suspicious of cerebral fat embolism in the setting of PFO. His neurological status remained poor despite being off of sedation for several days. Ultimately, he passed away three days after transitioning to hospice care. CFE occurs after fat emboli enters the arterial circulation either via PFO or directly through the lung capillaries. Currently PFO closure is recommended as secondary prevention in patients with cryptogenic stroke. Given the high mortality risk from fat embolism, further research is needed to determine if PFO closure for primary prevention should be considered for sickle cell patients with frequent sickle cell crises.