A team led by Lurie Children’s Hospital of Chicago researchers reported a case study of a newborn with combined spontaneous splenic rupture and severe hemophilia A. This baby, whose case is believed to be the first documented, was successfully treated without surgical intervention.
Results from the study, “Successful medical management of a neonate with spontaneous splenic rupture and severe hemophilia A,” were published in the Hematol Oncol Stem Cell Ther journal.
Hemophilia A, affecting approximately 1 in 5,000 males, is a blood disorder characterized by a deficiency in the clotting factor VIII that leads to increased bleeding problems. The disease is inherited in 70% of the cases, with the remaining 30% due to spontaneous mutations.
While the spleen is not a vital organ, it performs a number of important functions, including filtering the blood of damaged cells, participating in the immunological functions by destroying bacteria or other foreign invaders, and stocking around 33% of platelets, the colorless blood cells responsible for clotting.
Spontaneous splenic rupture (SSR) is an injury to the spleen, usually caused by trauma although it can result from an underlying disease. It is rarely observed in neonates.
A newborn weighing 2.95 kg (6.5 lbs) was admitted to the emergency room with jaundice and pallor. He was given a transfusion of packed red blood cells, and administrated one dose of intravenous immunoglobulins with two days of phototherapy. He was discharged, but by 11 days after birth, his symptoms had worsened. The infant was re-examined, including by ultrasound, and a heterogeneous solid mass was found in the left upper part of his abdomen, indicative of spleen problems.
The infant was then administrated blood transfusions and a replacement therapy based on recombinant factor VIII (rFVIII) concentrate, which continued every six months for a total of 17 doses with no evidence of inhibitors. Following this therapy, the baby displayed regular growth and development.
“Based on our literature review, we have reported on the case of the first neonate with spontaneous splenic rupture and severe hemophilia A who underwent successful medical treatment without surgical intervention. In newborns with hemophilia or other bleeding disorders, appropriate replacement of exogenous factor concentrates could prevent emergency splenectomy,” the researchers concluded.