deamino-arginine-vasopressin and Contusions

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

Topics: Administration, Intranasal; Contusions; Deamino Arginine Vasopressin; Female; Humans; Hyponatremia; Middle Aged; Seizures; Tongue

Recent studies indicate that bleeding disorders, particularly von Willebrand disease (VWD) is more prevalent than previously thought in adolescents with menorrhagia. Menorrhagia management in undiagnosed disorders of hemostasis may be associated with unwanted risks and complications. The prevalence of symptomatic VWD in the pediatric primary care setting appears to be 0.11% (95% CI, 0.04-0.25%). Studies evaluating the prevalence of VWD in adolescents with menorrhagia have included over 500 patients with a prevalence range from 3 to 36% depending on the clinical setting studied, with the highest prevalence seen in adolescents referred to an outpatient Hemophilia Center, while the lowest prevalence is seen in the acute hospital setting. Recently, the diagnosis of VWD has been facilitated by the use of pediatric bleeding questionnaires that have proved useful in quantifying the severity of bleeding symptoms. Treatment of VWD is often complex because a combination of therapies is often required. Potential treatment options include estrogen-progesterone preparations, desmopressin, antifibrinolytic agents and von Willebrand factor concentrates. More research is needed to evaluate the effectiveness of the various treatment modalities in the adolescent population.

Topics: Adolescent; Aminocaproic Acid; Antifibrinolytic Agents; Child; Contusions; Deamino Arginine Vasopressin; Epistaxis; Female; Hemostatics; Humans; Medical History Taking; Menorrhagia; Platelet Transfusion; Prevalence; Surveys and Questionnaires; Tranexamic Acid; von Willebrand Diseases; von Willebrand Factor

Topics: Antifibrinolytic Agents; Contusions; Deamino Arginine Vasopressin; Diagnosis, Differential; Female; Hemorrhage; Hemostatics; Humans; Male; Societies, Medical; von Willebrand Diseases