Boy with Hemophilia A with Inhibitor − Case Study with Voting

PERSONAL HISTORY

• Fourth child of otherwise healthy parents with a negative family history.
• The diagnosis of hemophilia was made postpartum due to bleeding manifestations (cephalohematoma); no other illnesses.
• Primary prophylaxis with recombinant FVIII concentrates was initiated as standard.
• After a few doses of rFVIII, the patient developed an inhibitor (antibody against FVIII) in high titer.
• Parents refuse immune tolerance treatment and prophylaxis with bypass agents (BPA).
• Repeated joint and other bleeding, treated with rFVIIa on-demand.
• Approximately one year into this regimen, post-traumatic bleeding into the spinal canal occurred, managed conservatively without sequelae.
• This event convinced the parents to agree to immune tolerance treatment (ITT). A regimen of 100 IU rFVIII/kg daily + daily bleeding prophylaxis with rFVIIa 90 µg/kg was chosen, with higher doses of rFVIIa administered during bleeding episodes.
• A port (CVAD) was inserted.

CURRENT ILLNESS

• On ITT for approximately 2 years. Initially, there was a significant rise in the inhibitor (maximum over 1000 BU), followed by a gradual decline; however, the inhibitor remains at levels of 50-80 BU.
• Repeated bleeding into the right ankle led to the development of a target joint, despite daily prophylaxis with rFVIIa.
• The frequency of bleeding is approximately once a month, with about one-third of the bleeding episodes being joint-related, predominantly into the ankle.

OBJECTIVE FINDINGS

• 4-year-old boy with hemophilia A with an inhibitor.
• Target joint – right ankle. Currently stabilized, with minimal changes.
• HJHS 0.
• Extreme aversion to i.v. drug application, including the port.
• Bleeding approximately once a month.

LABORATORY EXAMINATION

• The inhibitor oscillates around 80 BU.
• FVIII is unmeasurably low.
• Other examinations show no significant pathology.

IMAGING EXAMINATION

• Ultrasound findings of the right ankle correspond to chronic hemophilic arthropathy, with hypertrophied synovium (between 5 and 7 mm). The condition is stabilized, with no cartilage or bone involvement.

#16

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