Plasma-derived factor VIII (Octapharma AG)

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity. We report a patient with mcEDS who developed endometrial cancer and underwent surgery, with emphasis on perioperative management.

A female patient, who had been genetically diagnosed with mcEDS-CHST14 at the age of 25, presented with symptoms characteristic of mcEDS, including: congenital contractures of fingers and clubfeet, recurrent joint dislocation, progressive foot and spinal deformities, and large subcutaneous hematomas. At age 33, she had been diagnosed with atypical endometrial hyperplasia, and scheduled to undergo total abdominal hysterectomy. To address the risk of massive hemorrhage during the surgery due to mcEDS-related tissue fragility, plasma-derived factor VIII concentrate was prophylactically administered before surgery. During the surgery, neither fragility, hyperextensibility, nor hemorrhagic tendency of the uterus or adnexa observed was observed. The surgery was uneventful, with blood loss of 180 mL and operative time of 2 h and 54 min. However, on the sixth postoperative day, a 2.5-cm dissection was noted at the site of skin incision. Subcutaneous fluid accumulation developed under the skin incision and it persisted for 1.5 months. The postoperative pathological diagnosis was endometrioid carcinoma grade 1, stage IA.

The present case suggested that the prophylactic use of factor VIII was effective for the prevention of hemorrhage during surgery. However, delayed wound healing of the skin and subcutaneous tissues was considered a subject for future improvement.