Bleeding diathesis and gastro-duodenal ulcers in inherited cytosolic phospholipase-A2 alpha deficiency

• Published in: Thrombosis and haemostasis Vol. 112; no. 6; p. 1182
• Main Authors: Faioni, E M, Razzari, C, Zulueta, A, Femia, E A, Fenu, L, Trinchera, M, Podda, G M, Pugliano, M, Marongiu, F, Cattaneo, M
• Format: Journal Article
• Language: English
• Published: Germany 01.12.2014
• Subjects: Adult; Blood Coagulation Disorders, Inherited - blood; Blood Coagulation Disorders, Inherited - diagnosis; Blood Coagulation Disorders, Inherited - enzymology; Blood Coagulation Disorders, Inherited - genetics; Blood Platelets - metabolism; DNA Mutational Analysis; Duodenal Ulcer - blood; Duodenal Ulcer - diagnosis; Duodenal Ulcer - enzymology; Duodenal Ulcer - genetics; Factor XI - metabolism; Female; Genetic Predisposition to Disease; Group IV Phospholipases A2 - blood; Group IV Phospholipases A2 - deficiency; Group IV Phospholipases A2 - genetics; Hemostasis - genetics; Heredity; Heterozygote; Homozygote; Humans; Male; Middle Aged; Pedigree; Phenotype; Platelet Aggregation - genetics; Platelet Function Tests; Recurrence; Stomach Ulcer - blood; Stomach Ulcer - diagnosis; Stomach Ulcer - enzymology; Stomach Ulcer - genetics; Thromboxane A2 - blood; Twins - genetics; eicosanoids; gastro-duodenal ulcers; phospholipase A2a deficiency; bleeding diathesis; Platelet function disorders

Arachidonic acid (AA), when cleaved from phospholipids by cytosolic phospholipase A2 alpha (cPLA2a), generates eicosanoids, with pro-hemostatic, pro-inflammatory, vasoactive and gastro-protective functions. We describe a patient (27-year-old man) and his twin-sister with early-onset bleeding diathes...