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Niemann-Pick Disease Type B in the Peripartum Patient
Abstract Number: RF4BD-362
Abstract Type: Case Report Case Series
Niemann-Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disorder with a wide range of clinical phenotypes which may pose unique challenges to the management of obstetrical patients. Affected patients may develop hepatosplenomegaly, interstitial lung disease, and thrombocytopenia, with quantitative and qualitative platelet dysfunction. NPD Type B is a less severe, later-onset phenotype; however, few women with the diagnosis are known to have delivered children. We describe the management of a patient with NPD-B admitted for induction of labor.
A 22-year-old G2P0 at 35 weeks EGA with PMH of toxic multinodular goiter, gestational hypertension, and NPD-B experienced multiple episodes of epistaxis and new-onset gum bleeding. Serial platelet counts remained between 80-100K/mcL until 37 weeks EGA. Concern for further platelet decline and potential development of immune thrombocytopenia at term prompted hematology consultation and a five-day course of prednisone. The patient presented at 38 weeks for induction of labor for preeclampsia. Laboratory studies on admission were notable for platelets 83K/mcL, hemoglobin 11.6 g/dL, and fibrinogen 415 mg/dL. To further evaluate for qualitative platelet dysfunction, platelet function assay (PFA) revealed closure time 135 s and thromboelastogram (TEG) revealed R 5.8 min, K 2.3 min, α-angle 59.8°, and MA 54.4 mm. Peripheral blood smear demonstrated thrombocytopenia without evidence of hemolysis. A combined spinal-epidural technique was subsequently performed for labor analgesia. A healthy female was born via vacuum-assisted vaginal delivery with an EBL of 780 mL following administration of oxytocin, misoprostol, and carboprost. Her postpartum course was complicated by preeclampsia with severe features requiring magnesium and antihypertensive therapy. She was discharged home on postpartum day seven in stable condition.
While rarely encountered in parturients, NPD can result in life-threatening complications. Limited data from two case reports describe postpartum hemorrhage after cesarean delivery. One patient required massive transfusion after not responding to vasopressin, and another resulted in maternal death despite resuscitative efforts. Our case describes a patient with NPD-B who received neuraxial analgesia for an uncomplicated vacuum-assisted vaginal delivery. While PFA and TEG are not validated to predict spinal epidural hematoma risk, her preprocedural values, combined with unremarkable serum coagulation studies, helped reassure and guide neuraxial planning, vascular access, and blood product availability. A multidisciplinary approach to patients with NPD is recommended to characterize the risks of bleeding complications and develop a safe peripartum plan.
Porter, K. et al. (1997) Obstet Gynecol. 89(5): 860
Tanacan, A. et al. (2018) Case Rep Obstet Gynecol. 2018: 9719374