Planning for Birth for a Patient With Hermansky-Pudlak Syndrome

Abstract

Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder that affects 1 in 500,000–1,000,000 people worldwide. There are three elements of the disorder, including oculocutaneous albinism, disorder of ceroid metabolism, and platelet storage pool deficiency. Due to the platelet storage pool deficiency, risk of bleeding during labor and birth are significantly increased. A 25-year-old gravida 2, para 0101 pregnant woman presented at the maternal-fetal medicine office for a consult related to her diagnosis of HPS. The patient had confirmed HPS Type 1 by genetic testing. She also has ocular albinism and a history of blood transfusions for severe menorrhagia and anemia. The patient’s previous pregnancy was complicated by preterm labor, which ended in a cesarean for breech presentation, requiring a T incision. The patient received regional anesthesia with the previous delivery without adverse outcome and did not experience a postpartum hemorrhage. Collaboration among anesthesia, obstetrics, and hematology resulted in a birth plan that consisted of repeating coagulation studies on the day of surgery to determine type of anesthesia and need for desmopressin (DDAVP) prophylaxis or platelet transfusion before delivery. On the scheduled day of birth, hematology was consulted; platelets, activated partial thromboplastin time (APTT), fibrinogen, collagen epinephrine (EPI), platelet function interpretation, and Von Willebrand factor activity were drawn. Although coagulations studies were normal, hematology recommended general anesthesia for the cesarean due to risk of epidural hematoma and lack of definitive information on the safety of regional anesthesia in HPS. The patient gave birth via cesarean at 36 weeks and did not require prophylactic treatment with DDAVP or platelets. Patients with HPS need thoughtful birth planning and consultation with anesthesia and hematology to obtain the best possible outcome based on the limited evidence available. The delivery mode; anesthesia type; predelivery treatment, including DDAVP or platelet transfusion; and postpartum pain management should be thoroughly reviewed, discussed, and documented in the patient’s medical record to limit adverse events. Understanding HPS and the risk factors associated with it can help nurses better assess and care for patients affected with this syndrome.