title: Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome.
abstract: BACKGROUND
  Oculocutaneous albinism (OCA) in combination with a platelet function defect caused by a disturbed release reaction from platelet δ-granules (storage pool defect - SPD) is typical for the autosomal recessive inherited Hermansky-Pudlak syndrome (HPS).
  
  
  METHODS
  A girl (age: 13 years) with OCA was hospitalized with transfusion-requiring menorrhagia. The suspicion of HPS was confirmed by results of lumi-aggregometry. Suspecting a disorder in primary haemostasis treatment with tranexamic acid (10 mg/kg body weight every 8 h i. v.), desmopressin (0.3 µg/kg body weight every 8 to 12 h) and hormonal therapy (norethisterone) was started but the menorrhagia persisted. Clinical response was finally achieved by a single injection of 100 µg/kg body weight recombinant factor VIIa (rFVIIa).
  
  
  CONCLUSIONS
  The diagnosis of HPS should be suspected in patients with OCA and bleeding symptoms and is confirmed by the proof of SPD. In case of absent clinical response to desmopressin the application of rFVIIa should be considered. Hormones and antifibrinolytics are useful options in the treatment of extensive menorrhagia.
authors: Department of Pediatric Hematology and Oncology, Technical University of Dresden, Dresden, Germany. Judith.Lohse@uniklinikum-dresden.de
authors: J
authors: J
authors: Lohse
authors: S
authors: S
authors: Gehrisch
authors: J T
authors: JT
authors: Tauer
authors: R
authors: R
authors: Knöfler
mesh_terms: D000293:Adolescent; D000933:Antifibrinolytic Agents / Q000627:therapeutic use*; D005260:Female; D022861:Hermanski-Pudlak Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy*; D006801:Humans; D008595:Menorrhagia / Q000209:etiology* / Q000517:prevention & control*; D017211:Treatment Failure
chemical_list: D000933:Antifibrinolytic Agents