6-year-old Nishant (name changed) presented to a local hospital with acute onset fever and abdominal pain. He had had blunt trauma to the abdomen in the school a couple of days earlier. However, it was not deemed severe. He is from the Hindu-Maratha community, born out of a non-consanguineous marriage, and had no major illness or any other history of injury/surgery/prolonged bleeding.
Within a couple of hours of being brought to the hospital, his haemoglobin levels dropped from 8 gm% to 4.9 gm%. Nishant was moved to the PICU and abdominal ultrasound and CT scan were done. The ultrasound showed heterogeneous hyperechoic solid lesions with central necrosis and peripheral vascularity, and the abdominal CT scan showed that there were multiplepseudoaneurysms, intralesional acute hematoma as well as a perisplenic hematoma. He was investigated extensively, but no cause besides the splenic lesions were found. Nishant
went into shock and was given blood transfusions. It was two weeks in the PICU before he recovered and was discharged.
While he was temporarily better, Nishant’s parents brought him to Mumbai for further management for his splenic lesions. They were considering whether to surgically remove the lesions. During discussions with Dr. Navin Patil, Paediatric Surgeon, Amarnath Multidisciplinary Children’s Hospital, Mumbai, on potential treatment options, Nishant was referred to Dr Swati Kanakia, Paediatric Hemato-Oncologist, Kanakia Health Care, Mumbai. She noted that on three previous occasions, the activated partial thromboplastin time was 41 secs, 45 secs, and 47 secs respectively (for a control of 25 seconds) while the prothrombin time was normal. To confirm these reports, she first recommended a series of laboratory tests to be repeated. Blood tests revealed that the activated partial thromboplastin time was indeed deranged when compared to control values at 43.1 seconds. On the other hand, prothrombin and thrombin times were normal. These results suggested that Nishant had a defect in the intrinsic coagulation pathway. Factor assays showed that Factor IX and von Willebrand factor antigen levels were normal, but Factor VIII levels were only 18% of normal pooled plasma for a normal of 50-150%.
After an injury, the human body is designed to control the bleeding. Factor VIII is one of the many clotting factors in the coagulation cascade. A deficiency in Factor VIII results in an inability to coagulate blood appropriately and leads to prolonged and uncontrolled bleeding. Factor VIII deficiency or hemophilia A is the most common cause of inherited coagulation disorders. It is an X-linked recessive disorder and occurs mostly in males due to a mutation in the gene for Factor VIII. Females are often carriers of hemophilia, but generally do not have the disorder as they would need to have a mutation in both copies of their X-chromosomes, which is rare, though not unknown. Hemophilia can be categorized based on the amount of clotting factor in the blood. It can be mild, moderate or severe. It is considered mild, if the levels are 5-40% of normal clotting factor levels; moderate, if levels are 1-5%; and severe, if levels are <1%.
Haemorrhages in different parts of the body, especially deep bleeds, are the hallmarks of hemophilia. However, splenic hematoma as a presentation of hemophilia is rare, with only a few cases reported in the literature.
While appropriate blood tests are sufficient to diagnose hemophilia, it is extremely important to be able to clinically assess the possibility of hemophilia and confirm the diagnosis as this knowledge is likely to impact the future course for the patient. For Nishant, in light of this information, Dr Kanakia recommended that the surgical approach to remove the splenic lesions was not a good option, as Nishant was likely to bleed profusely. Dr Kanakia cautions: “Attention should be paid to every test result. Surgeons should especially check activated partial thromboplastin time in addition to bleeding time, clotting time and prothrombin time, and make early referrals in case of any abnormal values.”
Nishant has currently been requested to come for regular follow-ups to monitor the size of the hematoma. Dr Kuldeep Singh, Consultant Radiologist, Gurmeet Imaging Center, Mumbai, is closely monitoring the hematoma size, which is currently decreasing. Further, in case of other haemorrhagic episodes, recombinant Factor VIII can be given as treatment. In addition, Nishant’s mother and her family members have also been counselled to undergo testing as they may also be Factor VIII deficient.
“We have also referred him to the Hemophilia Society, India, where he can avail of recombinant Factor VIII at discounted rates,” says Dr. Kanakia. “In an attempt to make hemophilia treatment available at affordable costs, several state governments are providing free recombinant coagulation factors at certain hospitals for patients in economic need. The cost of recombinant coagulation factors is likely to run very high, and such initiatives are much appreciated by the families of hemophilia patients.”