Hermansky-Pudlak syndrome in a pregnant patient: a case report.
ABSTRACT Hermansky-Pudlak syndrome (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, cardiomyopathy and renal failure. Pregnancy in a patient with HPS can produce multiple complications such as peripartum hemorrhage and difficulties with administration of anesthesia, either regional or general.
We present the case of a patient with HPS also complicated by spontaneous triplet pregnancy.
A multidisciplinary approach, including the involvement of obstetric, anesthesia, and hematology teams, is the ideal for an HPS patient with the potential for multiple complications in the peripartum period.
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ABSTRACT: Challenges of modern medicine are peripartum bleeding complications as one of the most frequent cases of emergency in obstetrics with a prevalence of 0.5-5.0 %, meaning the main cause of maternal morbidity and mortality. In this context, inherited diseases such as Hermansky-Pudlak syndrome (HPS) should be recognized. HPS is a rare disease and belongs to a heterogeneous group of autosomal recessive disorders characterized by the triad of partial oculocutaneous albinism, disorder of "ceroid" metabolism and platelet storage pool deficiency with bleeding disorder. We report on a 30-year-old primipara, to show the peripartum obstetrical and anaesthesiological management. The patient presented with contractions in our outpatient department in the 39th gestational week. In previous operations there were bleeding complications due to HPS. Therefore, to minimize bleeding complications we aimed a vaginal birth, advised against the peridural anesthesia and optimized the coagulation parameters. The subsequent delivery was performed as vacuum extraction without complications. Patient and newborn could be discharged from the hospital without complications. In conclusion, decisive factor for patients with bleeding disorders is a close interdisciplinary cooperation between obstetrician and anesthesiologist.Archives of Gynecology 12/2013; 289(6). DOI:10.1007/s00404-013-3110-7 · 1.28 Impact Factor
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ABSTRACT: Thrombozytenzahl und -funktion sind nicht nur der in Schwangerschaft eine wichtige Grundlage für eine adäquate Hämostase. Thrombozytopenien jeglicher Ausprägung treten bei bis zu 15% aller Schwangerschaften auf. Die weitaus häufigste Form, die Gestationsthrombozytopenie, ist aufgrund ihres meist milden Verlaufs häufig nur von untergeordneter klinischer Bedeutung. Komplexere Formen eines Plättchenmangels, wie auch die wesentlich seltener auftretenden genuinen Thrombozytopathien, dagegen bedürfen einer risikoadaptierten Überwachung von Gravidität wie Geburtsverlauf und stellen Paradebeispiele einer interdisziplinären Vorgangsweise bei (Hoch-)Risikoschwangeren dar. Sufficient concentration and function of thrombocytes constitute an important part of adequate haemostasis in both pregnant and non-pregnant individuals. Any form of thrombocytopaenia may occur in up to 15% of pregnancies with its most frequent form—gestational thrombocytopaenia—being of rather minor importance due to its mild clinical course. Complex variants of thrombocytopaenia as well as rarely encountered genuine thrombocytopathic diseases, however, require risk-adjusted monitoring both during pregnancy and delivery and constitute a prime example of an interdisciplinary approach for (high) risk patients. SchlüsselwörterHämostase–Koagulopathie–Thrombose–Pränatale Versorgung–Immunopathien KeywordsHaemostasis–Blood coagulation disorders–Thrombosis–Prenatal care–Immune disordersDer Gynäkologe 07/2011; 44(7):527-532. DOI:10.1007/s00129-010-2736-9