deamino-arginine-vasopressin and Bernard-Soulier-Syndrome

Topics: Bernard-Soulier Syndrome; Blood Platelet Disorders; Deamino Arginine Vasopressin; Female; Fetal Diseases; Hemostatics; Humans; Platelet Aggregation; Platelet Storage Pool Deficiency; Pregnancy; Pregnancy Complications, Hematologic; Prenatal Diagnosis; von Willebrand Diseases

Topics: Adolescent; Antifibrinolytic Agents; Bernard-Soulier Syndrome; Comorbidity; Deamino Arginine Vasopressin; Epistaxis; Female; Hemostatics; Humans; Menorrhagia; Recurrence; Thrombasthenia; Tranexamic Acid

Bernard-Soulier syndrome (BSS) is a rare autosomal recessively inherited bleeding disorder. Pregnancy in patients with BSS is characterized by ante-, intra-, or postpartum haemorrhage, which may be delayed and severe. There is no consensus in the management of BSS in pregnancy and so far only 16 pregnancies in nine patients have been described. We report a further three pregnancies in two women with the syndrome. We also outline our management of pregnant patients with BSS.

Topics: Adolescent; Adult; Bernard-Soulier Syndrome; Blood Platelets; Consanguinity; Deamino Arginine Vasopressin; Erythrocyte Transfusion; Female; Humans; Platelet Aggregation; Platelet Transfusion; Postpartum Hemorrhage; Pregnancy; Pregnancy Complications, Hematologic; Tranexamic Acid

Topics: Adenocarcinoma; Anesthesia, Intravenous; Anesthetics, Intravenous; Anticoagulants; Aprotinin; Bernard-Soulier Syndrome; Colectomy; Colonic Neoplasms; Coronary Artery Bypass; Deamino Arginine Vasopressin; Drainage; Erythrocyte Transfusion; Extracorporeal Circulation; Genes, Dominant; Hemorrhagic Disorders; Hemostatics; Heparin; Humans; Leukopenia; Male; Middle Aged; Molecular Motor Proteins; Myosin Heavy Chains; Peptic Ulcer Hemorrhage; Plasma; Platelet Count; Platelet Transfusion; Pleural Effusion; Postoperative Complications; Postoperative Hemorrhage; Propofol; Sclerotherapy; Syndrome

Topics: Adult; Antifibrinolytic Agents; Bernard-Soulier Syndrome; Deamino Arginine Vasopressin; Female; Hemorrhage; Hemostatics; Humans; Pregnancy; Pregnancy Complications, Hematologic; Risk Factors; Tranexamic Acid

The Bernard-Soulier syndrome (B-S s.) is rare autosomal recessive bleeding disorder. It is characterized by prolonged bleeding time, fail to agglutinate with ristocetin and a normal to decreased number of unusually large platelets whose membrane lack glycoproteins complex GP Ib/IX/V. The manifestation of the disease may differ in consecutive pregnancies of the same patient. Presently we describe 24 years old white women diagnosed with B-S s. at the age of 22. Two years later she become pregnant. During the pregnancy platelet counts ranged from 26 x 10(9)/1 to 51 x 10(9)/1, without sings of bleeding. Because of the risk of immunization against GP Ib/IX, with might lead to severe isoimmune neonatal thrombocytopenia, 4 times during pregnancy she had done MAIPA-test (monoclonal antibody immobilization of platelet antigens). Specific antibodies were not detected. Subsequent ultrasounds with biophysical profile revealed normal fetus growth. Spontaneous labour in 38th week of gestation. The use of single-donor platelets, intravenous desmopressin and tranexamic acid was found to be useful in controlling postpartum vaginal bleeding in the patient.

Topics: Adult; Antigens, Human Platelet; Bernard-Soulier Syndrome; Deamino Arginine Vasopressin; Female; Humans; Infant, Newborn; Injections, Intravenous; Platelet Transfusion; Postpartum Hemorrhage; Pregnancy; Pregnancy Complications, Hematologic; Pregnancy Outcome; Tranexamic Acid; Treatment Outcome

We describe a new variant of Bernard-Soulier syndrome characterized by almost normal amounts of GPIb and severely reduced GPIX and GPV. Despite surface expression, GPIbalpha failed to support ristocetin-induced platelet agglutination and to bind two conformation-dependent monoclonal antibodies, suggesting a qualitative defect. Sequence analysis of the gene coding for GPIX revealed a T-to-C substitution at base 1811, leading to a Leu40Pro conversion, whereas no defects were found in the coding region of the GPIbalpha gene. Allele-specific restriction enzyme analysis showed that the propositus and one of his sisters. both with severe bleeding diathesis. were homozygous for the GPIX mutation: the members of the family with mild bleeding diathesis and/or giant platelets in the peripheral blood were heterozygous, whereas the healthy ones were homozygous for the normal allele. Infusion of 1-desamino-8-D-arginine vasopressin normalized bleeding time in the two severely affected patients, although it did not modify ristocetin-induced platelet agglutination or membrane expression of GPIbalpha, GPIX, GPIIb-IIIa and GMP-140. Moreover, in one patient, normalization of bleeding time and rise of von Willebrand factor plasma concentration did not seem to be directly related.

Topics: Amino Acid Substitution; Bernard-Soulier Syndrome; Bleeding Time; Deamino Arginine Vasopressin; DNA; Female; Hemostatics; Humans; Male; Middle Aged; Pedigree; Phenotype; Platelet Glycoprotein GPIb-IX Complex

Topics: Adolescent; Bernard-Soulier Syndrome; Bleeding Time; Deamino Arginine Vasopressin; Female; Humans

Topics: Adult; Bernard-Soulier Syndrome; Deamino Arginine Vasopressin; Female; Hemorrhage; Hemostasis; Humans; von Willebrand Factor

We present 2 patients with Bernard-Soulier syndrome from two different families. The parents of one of the patients were found to have had common ancestors in the 17th century. The platelet membrane content of glycoprotein (GP)Ib was measured in the patients and their first-degree relatives with an ELISA technique based on monoclonal antibodies. Both patients had very low levels of GPIb. In one of the families the heterozygotes had reduced expression of GPIb but in the other the obligate heterozygotes had normal values, suggesting that the molecular pathology differs between the two families. In both patients, bleeding time was shortened by infusion of DDAVP (1-deamino-8-D-arginine vasopressin), although it was not completely normalised. DDAVP may be of some therapeutic value in cases of Bernard-Soulier syndrome.

Topics: Adult; Aged; Bernard-Soulier Syndrome; Bleeding Time; Deamino Arginine Vasopressin; Factor VIII; Female; Humans; Male; Pedigree; Platelet Adhesiveness; Platelet Count; Platelet Membrane Glycoproteins; von Willebrand Factor

Topics: Adult; Bernard-Soulier Syndrome; Blood Coagulation; Blood Platelet Disorders; Deamino Arginine Vasopressin; Female; Humans

Topics: Adult; Bernard-Soulier Syndrome; Bleeding Time; Blood Platelet Disorders; Deamino Arginine Vasopressin; Humans; Male