Hemophilic pseudotumor of the maxillary sinus in an inhibitor-positive patient with hemophilia A receiving emicizumab: a case report.

A 14-year-old inhibitor-positive male patient with severe hemophilia A and severe psychomotor disability was admitted due to left buccal swelling and impaired downward movement of the left eye. He had been on noninvasive positive-pressure ventilation (NPPV) through a nasal mask for upper airway obstruction. The patient began to have repeated epistaxis 16 months after initiation of treatment with 6 mg/kg Q4W of emicizumab, and was thus administered a bypassing agent. Left buccal swelling and impaired downward movement of the left eye appeared during the subsequent month. Imaging examination revealed a mass in the left maxillary sinus and bone destruction. Endoscopic tumor resection and tracheostomy were performed using recombinant activated factor VII. NPPV was discontinued thereafter. Pathological examination revealed that the mass was a hemophilic pseudotumor (HP). After discharge the emicizumab-regimen dose was changed to 3 mg/kg, Q2W to increase serum emicizumab levels. No recurrent HP or bleeding requiring treatment was observed. Pressure applied to the damaged nasal mucosa by NPPV was suspected as the main cause of HP development. If a mass is observed in a patient with hemophilia, HP should be considered as a possible diagnosis even if the patient is receiving emicizumab.

Acute Deterioration of Pulmonary Arterial Hypertension (PAH) in a Patient with Neurofibromatosis Type 1 (NF1).

A 56-year-old woman was diagnosed as having chronic obstructive pulmonary disease with heavy smoking. Mild pulmonary hypertension (mean pulmonary arterial pressure: 31 mmHg) was detected at the first visit. She was diagnosed with pulmonary hypertension due to pulmonary disease and medicated only with bronchodilators. Simultaneous, multiple freckling in the trunk of her body and café au lait macules in her back with some cutaneous neurofibromas were also detected. A plastic surgeon removed one of the neurofibromas and pathologically diagnosed it as neurofibromatosis type 1 (NF1). We finally rediagnosed her with pulmonary hypertension with unclear and/or multifactorial factors when she deteriorated 1 year after being treated only with bronchodilators. We then administrated upfront combination therapy with macitentan and tadalafil. Mean pulmonary arterial pressure rapidly improved. Learning Objective. Pulmonary arterial hypertension (PAH) in neurofibromatosis type 1 (NF1) can occur due to lung disease or due to certain involvement of pulmonary arteries, or a combination of both. Increased awareness of PAH in NF1 is very important for patients survival. The current therapeutic strategy is almost identical to that of idiopathic PAH; however, there is no clinical evidence. Insights gained from clinical experiences should help identify promising novel therapeutic approaches in NF1-PAH.