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Management of a Parturient with Hermansky-Pudlak Syndrome
Abstract Number: FC10-492
Abstract Type: Case Report Case Series
Intro: Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, and in some patients pulmonary fibrosis. Parturients with HPS warrant a multi-disciplinary approach to prevent maternal morbidity and mortality.
Case: The patient was a 28 year old G3P2 admitted at 36 weeks gestation in the setting of acute respiratory insufficiency. The patient’s medical history was significant for HPS, asthma, morbid obesity, pre-eclampsia, peripartum cardiomyopathy, and postpartum hemorrhage (PPH). On admission, she reported dyspnea on exertion and peripheral edema. Over the next ten days, the patient decompensated requiring intubation for acute respiratory distress syndrome with the differential including pneumonia (rhinovirus and mycoplasma positive), pulmonary fibrosis, asthma exacerbation, cardiomyopathy, and pulmonary arterial hypertension. Cardiothoracic surgery was consulted for possible extracorporeal membrane oxygenation. On day eleven, the patient was transferred for cesarean section in the cardiac operating room. Vaginal bleeding was noted. On exam, patient was found to be 10cm dilated with a liveborn male delivered via vacuum-assisted vaginal delivery with APGARS 2/4/7 and estimated blood loss of 150cc. Tranexamic acid and platelet transfusion were prophylactically administered. Several hours later, the patient developed PPH requiring red blood cell and platelet transfusion. Following delivery, the patient had persistent respiratory and right heart failure. She was discharged to rehabilitation 51 days after admission. Three months postpartum, the patient is awaiting lung transplantation for interstitial lung disease.
Discussion: Ten subtypes of HPS have been identified. All are characterized by OCA and platelet dysfunction associated with mild to severe bleeding. Identified by platelet transmission electron microscopy, the absence of delta granules whose content initiates the platelet aggregation cascade is diagnostic. Pulmonary fibrosis is associated with HPS-1, 2, and 4 and develops most commonly in the third decade of life. High-resolution CT is the diagnostic modality of choice showing increased reticular opacities, thickened interlobular septa, ground-glass infiltrations, and fibrotic changes. The severity of HRCT findings correlates with decrease in pulmonary function and mortality which most commonly occurs in the fourth and fifth decade of life. There are no recommendations for management in the parturient, however, diagnosis of specific subtype, analysis of platelet dysfunction, and evaluation for pulmonary disease are critical. Avoidance of neuraxial anesthesia and NSAID use with recognition of increased risk for PPH have been described. Treatment of bleeding by single donor, HLA-matched platelet transfusion and desmopressin is recommended.
El-Chemaly et al. Clin Chest Med 2016.
Yusuf et al. Obstetric Medicine 2016.
Van Avermaete et al. BMJ Case Rep 2016.