PO0038 - Sporadic Hemophilia – When Family History Offers No Clues

Background: Hemophilia A is an X-linked coagulopathy, characterized by FVIII deficiency. Although usually inherited, sporadic cases are common. In Portugal, there is a referral network for congenital coagulopathies that ensures follow-up of these patients in centers with specialized healthcare professionals.

Aims: Description of two cases of sporadic hemophilia, diagnosed in a Portuguese hospital that is not a reference center for follow-up/treatment of congenital coagulopathies.

Methods: Collection of clinical data in SClínico® application.

Results: Patient 1 is a male newborn who presented, after instrumented delivery, a large median parieto-occipital cephalohematoma. A cranial CT scan revealed a mild subarachnoid hemorrhage. Hemoglobin decreased to 6,3g/dL, without evidence of hemolytic disease of newborn. Transfusion of 60mL of packed red blood cells was performed (body-weight: 3690g). The patient presented a favorable clinical evolution and was discharged. At 15 months, due to frequent extensive ecchymoses since he started walking, a coagulation study was requested, revealing a prolonged aPTT (60,8seconds; age-adjusted normal range: 28,6-35,8seconds) and a decreased factor VIIIc (2%), compatible with moderate hemophilia A.
Patient 2 is a 21-month-old male child admitted to the emergency department with ecchymosis, pain and claudication in the right leg, without history of trauma/fall. His mother mentioned easy bruising in minor trauma situations, previously reported to assistant clinician. Coagulation study showed a prolonged aPTT (76,3seconds; age-adjusted normal as above) and a decreased factor VIIIc ( < 1%), compatible with severe hemophilia A.
Family history of diagnosed/suspected coagulopathy was absent in both cases.

Conclusion(s): Individuals with inherited coagulopathies are often already identified, allowing early evaluation/follow-up of their offspring. In hemophilia A, 55% of severe cases and 30% of mild/moderate cases are, however, sporadic.
These diagnoses were established 2 years-apart, in a hospital without experience in coagulopathies management, highlighting the importance of a comprehensive/standardized assessment of bleeding signs/symptoms by all clinicians, even in the absence of suggestive family setting.