DNA Diagnosis and Management of Hermansky-Pudlak Syndrome in Pregnancy

Abstract

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet storage pool deficiency, and ceroid lipofuscin deposition. Sequelae including pulmonary fibrosis, colitis, and hemorrhagic diathesis can impact obstetric management. An 18-year-old primigravida with OCA was diagnosed during pregnancy with Hermansky-Pudlak syndrome by DNA analysis. Uneventful vaginal delivery occurred at term following prophylactic platelet transfusion. Women of northwestern Puerto Rican descent with OCA should be offered testing for HPS. Identification of affected individuals may permit optimal obstetric management.

Hermansky-Pudlak Syndrome in Pregnancy

“…Genetic testing may be performed during pregnancy. 3 Care for the obstetric patient with HPS is a multidisciplinary approach, involving obstetricians, hematologists, geneticists, anesthetists, and pulmonologists. It is difficult to state definitive guidelines due to the scarcity of case reports.…”

Hermansky-Pudlak syndrome in the peripartum period

“…She was given five units of platelets prophylactically and spontaneously delivered a healthy male infant without complications. 8 Reiss et al 9 reported two cases of Puerto Rican women, one presenting at 40 weeks and the other at 39 weeks of gestation. One patient received prophylactic platelet transfusion while the other did not; both had uncomplicated deliveries.…”

“…She was given five units of platelets prophylactically and spontaneously delivered a healthy male infant without complications. 8 Reiss et al…”

The presentation and outcomes of Hermansky‐Pudlak syndrome in obstetrics and gynecological settings: A systematic review

“…The data extracted from the cases are represented in Tables 1 and 2. 13,[15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] In all the studies, diagnosis of HPS was confirmed by a hematologist; of which nine (56%) studies fully described the diagnostic criteria met by subject(s). Further subgroup analysis revealed a high percentage of studies (n = 15; 94%) adequately described and reported study outcome(s) and ensured adequate subject follow-up.…”

“…22 Pregnancies managed with hemostatic platelet transfusion had lower EBL (8 cases, highest EBL 800 ml) compared to those managed with desmopressin (9 cases, highest EBL 1600 ml). 13,[16][17][18][19][20][21][22][23][24][25][26][27] Major PPH occurred in 3/9 (33%) cases in the desmopressin group compared to none when platelets were used. Platelets and packed red cells transfusion were required to treat PPH in 4/9 (44%) and 2/9 (22%) cases in the desmopressin group respectively.…”