deamino-arginine-vasopressin and Hermanski-Pudlak-Syndrome

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.

Topics: Deamino Arginine Vasopressin; Female; Hemostatics; Hermanski-Pudlak Syndrome; Humans; Infant, Newborn; Male; Postpartum Hemorrhage; Pregnancy; Pregnancy Complications; Vacuum Extraction, Obstetrical; Young Adult

Hermansky-Pudlak syndrome (HPS) is a common genetic disorder in Puerto Rico. In children with HPS, bleeding is the most disturbing and incapacitating problem. Desmopressin (1-deamino-8-D-arginine vasopressin, (DDAVP)) has been recommended in the management of bleeding disorders characterized by platelet dysfunction, such as HPS.. Nineteen pediatric Puerto Rican patients with HPS and prolonged bleeding time (BT) were tested for response to administration of DDAVP.. Baseline BT was abnormal in 18 (95%) of the patients. The BT following DDAVP administration improved in two cases (11%): one from 7.2 to 5.6 min and the other from 8 to 6 min (Tables II and III). BT measurements remained very prolonged (>15 min) in 17 (89%) of the patients. Patients with the HPS 1 gene mutation had a statistically significant correlation with the poor response following DDAVP (P = 0.03).. DDAVP seldom improves the BT of Puerto Rican children with HPS. Response to DDAVP should be determined individually and platelet transfusion should remain the treatment of choice for a major bleeding episode or surgical procedure.

Topics: Adolescent; Bleeding Time; Child; Child, Preschool; Deamino Arginine Vasopressin; Female; Hemostatics; Hermanski-Pudlak Syndrome; Humans; Male; Treatment Outcome

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency, oculocutaneous albinism, inflammatory bowel disease, neutropenia, and pulmonary fibrosis. Ten genes associated with HPS are identified to date, and each gene encodes a protein subunit of either Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, BLOC-2, BLOC-3, or the Adaptor Protein-3 complex. Several genetic variants and phenotypic heterogeneities are reported in individuals with HPS, who generally exhibit easy bruisability and increased bleeding. Desmopressin, pro-coagulants, or platelet transfusion may be used as prophylaxis or treatment for excessive bleeding in patients with HPS. However, response to desmopressin can be variable. Platelets are effective in preventing or treating bleeding in individuals with HPS, but platelets should be transfused judiciously to limit alloimmunization in patients with HPS who are at risk of developing pulmonary fibrosis and may be potential candidates for lung transplantation. The discovery of new genes associated with HPS in people with excessive bleeding and hypopigmentation of unknown etiology may be facilitated by the use of next-generation sequencing or panel-based genetic testing.

Topics: Aminocaproic Acid; Antifibrinolytic Agents; Blood Platelets; Carrier Proteins; Contusions; Deamino Arginine Vasopressin; Hemorrhage; Hermanski-Pudlak Syndrome; Humans; Hypopigmentation; Lysosomes; Nerve Tissue Proteins; Proteins; Tranexamic Acid

We describe the obstetric management for a patient with Hermansky-Pudlak syndrome (HPS) and a previous cesarean delivery. The disease is characterized by oculocutaneous albinism, platelet storage dysfunction, and lipofuscin deposits in the reticuloendothelial system. Patients with the disorder are at high risk for major morbidity secondary to bleeding complications. The patient was a 22-year-old military spouse from Puerto Rico with HPS and a history of severe hemorrhage during cesarean delivery of her first child. In this report, we discuss the pathophysiologic features of HPS and the prophylactic administration of 1-deamino-8-arginine-vasopression during labor to minimize blood loss.

Topics: Adult; Deamino Arginine Vasopressin; Female; Hemostatics; Hermanski-Pudlak Syndrome; Humans; Postpartum Hemorrhage; Pregnancy; Pregnancy Complications; Vaginal Birth after Cesarean

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, a bleeding diathesis, and in a subset of patients, pulmonary fibrosis. Lung transplantation, the only curative therapy for pulmonary fibrosis, has not been previously reported as a successful treatment strategy for patients with HPS because the bleeding diathesis was thought to contraindicate major thoracic surgery. We successfully performed bilateral sequential lung transplantation in a patient with pulmonary fibrosis and HPS after transfusion of 6 units of platelets. Lung transplantation is a viable therapeutic option in patients with pulmonary fibrosis and only a mild bleeding diathesis associated with HPS.

Topics: Adult; Blood Platelet Disorders; Deamino Arginine Vasopressin; Hemorrhagic Disorders; Hemostatics; Hermanski-Pudlak Syndrome; Humans; Lung Transplantation; Male; Membrane Proteins; Platelet Transfusion; Pulmonary Fibrosis; Treatment Outcome

Hermansky-Pudlak syndrome is characterised by oculocutaneous albinism and haemorrhagic diathesis. The bleeding tendency that is associated with this autosomal recessive disease is caused by storage-pool deficiency and has been reported to be controllable by prophylactic administration of 1-desamino 8D-arginine (desmopressin, DDAVP). The DDAVP prophylaxis at the first delivery of our patient did not prevent the severe haemorrhagic sequeal requiring transfusion of packed red cells and platelets, but the same preventive measure was successful at her second childbirth. Response to prophylactic DDAVP administration varies between as well as within patients with Hermansky-Pudlak syndrome.

Topics: Adolescent; Cesarean Section; Deamino Arginine Vasopressin; Erythrocyte Transfusion; Female; Hermanski-Pudlak Syndrome; Humans; Platelet Transfusion; Postoperative Hemorrhage; Postpartum Hemorrhage; Pregnancy; Pregnancy Complications

Topics: Adult; Deamino Arginine Vasopressin; Female; Hemostatics; Hermanski-Pudlak Syndrome; Humans; Nystagmus, Pathologic; Platelet Aggregation