Contributions
Abstract: P02
Type: Poster presentation
Presentation during EHA Scientific Conference on Bleeding Disorders:
On Friday, September 16, 2016 from 14:00 - 15:30
Location: Cristal + Coral
Background
Glanzmann thrombasthenia is a rare genetic platelet disorder in which the platelet glycoprotein IIb/IIIa (GP IIb/IIIa) complex is either dysfunctional or deficient and it is observed more often in populations that consanguinity marriages are more often such as Turkey. Bleeding manifetations may be clinically variable, ranging from easy bruising to severe and potentially life threatening hemorrhages. Menorrhagia is an important bleeding type causing severe anemia among female glanzmann thrombastenia patients.
Aims
We aimed to document the clinical and laboratory spectrum of our patients with glanzmann thrombastenia, focus on patients with recurrent menometrorrhagia and their response to nasal desmopressin treatment.
Methods
From January 2002 to December 2015, 34 patients (13 female and 21 male) with Glanzmann thrombasthenia who were diagnosed and followed in Hacettepe University Pediatric Hematology department were retrospectively evaluated through hospital records.
Results
At initial diagnosis patients ages ranged between 2.5 to 180 months (median 36 months) and their first bleeding episode occured between ages 1 to 180 months (median 36 months). Two patients were diagnosed because of a known sibling with this diagnosis and there were consanguinity between parents in 19 patients. Flow cytometry confirmed the diagnosis of Glanzmann thrombasthenia and CD41, CD61 were found to be 0%. Bleeding episodes tend to be mild mucocutaneous bleedings, such as petechia, echymoses, epistaxis and gingival bleeding. Epistaxis was found to be the most common bleeding type ( n: 16) however bleedings from other anatomic sites like tonsillary (n:1), gastrointestinal (n:2), hematuria ( n:1) , hemarthroses (n:1), intracranial (n:1) and menorrhagia (n: 3) were observed too. We focused on these 3 patients with recurrent menometrorhagia. One of these 3 patients was hospitalized 3 times for severe anemia because of uncontrolled menorhagia and received rFVIIa. All of these patients took hormonal therapy to control their menometrorhagia. They were also taking iron replacement therapy. But they were all anemic with hemoglobin values 11gr/dL, 7,4gr/dL, 6,4gr/dL respectively. Nasal desmopressin was started to given during their menstrueal bleeding days (2x150mq/puff) with fluid restriction and 3 months after treatment hemoglobin levels increased found 13,9 gr/dL, 10,9 gr/dL and 12,7 gr/dL respectively. Moreover, hormonal treatment was stopped by administering nasal desmopressin. No side effect was observed. They all declared that their bleeding intensity decreased and duration was shortened.
Summary - Conclusion
Our experience showed that nasal desmopressin treatment is effective and safe to control menometrorhagia among female patients with glanzmann thrombasthenia.
References
1. Seligsohn U et al. Haemophilia. 2012;18:161-5.
2. Leissinger C et al. Haemophilia. 2014;20:158-67.
3. Leissinger C et al. Haemophilia. 2014;20:158-67
Abstract: P02
Type: Poster presentation
Presentation during EHA Scientific Conference on Bleeding Disorders:
On Friday, September 16, 2016 from 14:00 - 15:30
Location: Cristal + Coral
Background
Glanzmann thrombasthenia is a rare genetic platelet disorder in which the platelet glycoprotein IIb/IIIa (GP IIb/IIIa) complex is either dysfunctional or deficient and it is observed more often in populations that consanguinity marriages are more often such as Turkey. Bleeding manifetations may be clinically variable, ranging from easy bruising to severe and potentially life threatening hemorrhages. Menorrhagia is an important bleeding type causing severe anemia among female glanzmann thrombastenia patients.
Aims
We aimed to document the clinical and laboratory spectrum of our patients with glanzmann thrombastenia, focus on patients with recurrent menometrorrhagia and their response to nasal desmopressin treatment.
Methods
From January 2002 to December 2015, 34 patients (13 female and 21 male) with Glanzmann thrombasthenia who were diagnosed and followed in Hacettepe University Pediatric Hematology department were retrospectively evaluated through hospital records.
Results
At initial diagnosis patients ages ranged between 2.5 to 180 months (median 36 months) and their first bleeding episode occured between ages 1 to 180 months (median 36 months). Two patients were diagnosed because of a known sibling with this diagnosis and there were consanguinity between parents in 19 patients. Flow cytometry confirmed the diagnosis of Glanzmann thrombasthenia and CD41, CD61 were found to be 0%. Bleeding episodes tend to be mild mucocutaneous bleedings, such as petechia, echymoses, epistaxis and gingival bleeding. Epistaxis was found to be the most common bleeding type ( n: 16) however bleedings from other anatomic sites like tonsillary (n:1), gastrointestinal (n:2), hematuria ( n:1) , hemarthroses (n:1), intracranial (n:1) and menorrhagia (n: 3) were observed too. We focused on these 3 patients with recurrent menometrorhagia. One of these 3 patients was hospitalized 3 times for severe anemia because of uncontrolled menorhagia and received rFVIIa. All of these patients took hormonal therapy to control their menometrorhagia. They were also taking iron replacement therapy. But they were all anemic with hemoglobin values 11gr/dL, 7,4gr/dL, 6,4gr/dL respectively. Nasal desmopressin was started to given during their menstrueal bleeding days (2x150mq/puff) with fluid restriction and 3 months after treatment hemoglobin levels increased found 13,9 gr/dL, 10,9 gr/dL and 12,7 gr/dL respectively. Moreover, hormonal treatment was stopped by administering nasal desmopressin. No side effect was observed. They all declared that their bleeding intensity decreased and duration was shortened.
Summary - Conclusion
Our experience showed that nasal desmopressin treatment is effective and safe to control menometrorhagia among female patients with glanzmann thrombasthenia.
References
1. Seligsohn U et al. Haemophilia. 2012;18:161-5.
2. Leissinger C et al. Haemophilia. 2014;20:158-67.
3. Leissinger C et al. Haemophilia. 2014;20:158-67