Correct Diagnosis Required for Facial, Scalp Swelling in Children; Could Indicate Hemophilia

Facial and scalp swelling can be indicators of childhood hemophilia, but for children who are misdiagnosed and treated incorrectly, the effects of the disease’s elevated bleeding predisposition can be catastrophic.

In the study, “Facial and Scalp Swelling in the Pediatric Population With Hemophilia: A Diagnosis Pitfall,” published in ePlasty, researchers faced with severe outcomes in a misdiagnosed hemophilia patient described the clinical manifestations that should be considered for correct hemophilia diagnosis and symptom management.

Hemophilia B is a rare hereditary genetic disorder caused by a deficiency of the coagulation factor IX, which affects approximately 1 in 20,000-30,000 males. The severity of the disease ranges from mild to severe, depending on the level of factor IX activity leading to distinct clinical presentations.

The severe form of hemophilia B, which affects about 50-60% of hemophilia B patients, is often characterized by spontaneous bleeding in muscles, joints, or soft tissue, causing potentially life-threatening hemorrhages.

The study’s Australian researchers, at The Children’s Hospital at Westmead, were faced with cases of two hemophilia patients who both presented with cheek and scalp swelling.

The first, a boy seven months old with unilateral cheek swelling, was promptly diagnosed with hemophilia B, was managed conservatively, and then recovered without further events. The second, a 22-month old boy, showed scalp swelling but was incorrectly not diagnosed with hemophilia B. Consequently, he underwent surgical drainage but his hematoma reaccumulated and he required blood transfusion.

Because hemophilia misdiagnosis may lead to severe outcomes, researchers placed a goal at unraveling clinical manifestations that could help diagnose patients and lead to proper symptom management.

Investigators listed red flags associated with facial or scalp swelling that should be considered as a possible hemophilia indicators: low impact trauma, first incident of trauma, extension of swelling over 24 to 48 hours, or the miscorrelation of the severity and size of the swelling with clinical history.

Clinical features that could help physicians distinguish hemophilia B patients include: bleeding diathesis, which is an unusual bleeding predisposition; venous malformation; and lymphatic malformation.

When red flags are observed, blood examination and ultrasonography should be performed to confirm or discard hemophilia diagnosis. Hemophilia patients often have high activated partial thromboplastic time, a measure of the blood coagulation rate, or anemia when a significant amount of bleeding is present.

If a patient is suspected of having hemophilia, hematomas should be managed conservatively with the replacement of the deficient clotting factor. Surgical drainage of a hematoma should be avoided to prevent life-threatening bleeding and blood transfusion.

According to the study, it is important to be open to different diagnosis and to be aware of hemophilia red flags.

Researchers concluded: “Without a family history of bleeding disorder, the diagnosis of bleeding diathesis could be easily overlooked and subsequent surgical management would have been catastrophic and potentially detrimental.”