Rare New Case of Pseudotumor in non-Hemophiliac Patient Reported

Rare New Case of Pseudotumor in non-Hemophiliac Patient Reported

Researchers at the Mayo Clinic Arizona have reported a third rare case of hemophilic pseudotumor (HP) identified in a non-hemophiliac patient.

Findings from the investigation, “Hemophilic pseudotumor in a non-hemophilic patient treated with a hybrid procedure of preoperative embolization of the feeding arteries followed by surgical resection—A case report,” were published in the International Journal of Surgery Case Reports.

HP is a rare complication that occurs in 1 to 2 percent of patients with hemophilia A and B — two bleeding conditions caused by deficient clotting proteins (factor VIII in hemophilia A and factor IX in hemophilia B).

Hemophilic pseudotumor is caused by the recurrent episodic and intermittent bleeding into soft tissue and osseous regions, which alters and destroys nearby tissues. This makes HP a challenge to diagnose, requiring both advanced methodologies and a high index of clinical suspicion, particularly in non-hemophilic patients.

In this study, the researchers identified a new and extremely rare HP case in a patient without hemophilia — an infrequently observed event. A 46-year-old man with a history of Noonan’s syndrome, a disease characterized by abnormal facial features, heart defects, short stature, bleeding issues and skeletal abnormalities arrived at the clinic. The man, who had surgically corrected congenital heart disease, came in with back pain and left-sided iliopsoas mass associated radiculopathy.

The patient presented no history of trauma, received no anti-coagulation treatments, and showed no abnormalities in levels of factors VIII, IX and XI to suspect the presence of hemophilia A or B. However, his open biopsy results were consistent with HP, which the researchers believe was caused by his underlying bleeding problems.

The patient was treated using a hybrid procedure of preoperative embolization followed by surgical debridement and resection, with positive outcomes.

“To the best of our knowledge, this report represents one of three cases in the literature of hemophilic pseudotumor in a non-hemophiliac patient. It highlights the diagnostic and therapeutic challenges associated with hemophilic pseudotumors, and raises the question as to whether our patient’s unspecified bleeding diathesis put him at increased risk. This case was managed with a hybrid procedure of coil embolization and surgical resection, with excellent results,” the authors wrote.

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