Glanzmann’s Thrombasthenia: A Rare Cause of Recurrent Profuse Epistaxis

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• 作者：Mainak Dutta (1) (6)
  Soumya Ghatak (2) (6)
  Sirshak Dutta (3) (6)
  Jayanta Saha (4) (6)
  Indranil Sen (1) (6)
  Ramanuj Sinha (5) (6)
  
• 关键词：Epistaxis ; Glanzmann’s thrombasthenia ; Platelet aggregation defect
• 刊名：Indian Journal of Hematology and Blood Transfusion
• 出版年：2011
• 出版时间：June 2011
• 年：2011
• 卷：27
• 期：2
• 页码：113-116
• 全文大小：171KB
• 参考文献：1. Juselius H (1974) Epistaxis, a clinical study of 1,724 patients. J Laryngol Otol 88:317-27 CrossRef
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  8. George JN, Caen JP, Nurden AT (1990) Glanzmann’s thrombasthenia: the spectrum of clinical disease. Blood 75:1383
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  10. Bellucci S, Caen J (2002) Molecular basis of Glanzmann’s thrombasthenia and current strategies in treatment. Blood Rev 16:193 CrossRef
  11. Nurden AT (2006) Glanzmann thrombasthenia. Orphanet J Rare Dis 1:10. doi:10.1186/1750-1172-1-10 CrossRef
  12. Wilcox DA, Wauthier JL, Pidard D, Newman PJ (1994) A single amino acid substituton flanking the fourth calcium binding domain of αIIb prevents maturation of the αIIbβ3 complex. J Biol Chem 269:4450
  13. Ruiz C, Liu CY, Sun WH et al (2001) A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (αIIbβ3) integrin receptor locked in a high affinity state and a Glanzmann thrombasthenia-like phenotype. Blood 98:2432 CrossRef
  14. Poon MC, D’Oiron R, Von Depka M et al (2004) Prophylactic and therapeutic factor VIIa administration to patients with Glanzmann thrombasthenia: results of an international survey. J Thromb Haemost 2:1096 CrossRef
  
• 作者单位：Mainak Dutta (1) (6)
  Soumya Ghatak (2) (6)
  Sirshak Dutta (3) (6)
  Jayanta Saha (4) (6)
  Indranil Sen (1) (6)
  Ramanuj Sinha (5) (6)
  
  1. 55/2, Deshbandhu Road (E), Kolkata, 700035, West Bengal, India
  6. R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata, 700004, West Bengal, India
  2. B-24/3, Kalindi Housing Estate, Kolkata, 89, West Bengal, India
  3. 3/1, Bosepara Lane, Hooghly, Baidyabati, 712222, West Bengal, India
  4. Flat 2D, Block 2, Shrachi Village, Jessore Road, Madhyamgram, Kolkata, 129, West Bengal, India
  5. 4RA, 2/1, Purbachal, Salt Lake, Kolkata, 97, West Bengal, India
  
• ISSN：0974-0449

文摘

Though epistaxis is a commonplace emergency encountered in the Otorhinolaryngology clinic, recurrent, severe and intractable cases are relatively less common. In those cases where no local causes are found that could explain such episodes, systemic causes, including hematological disorders should be considered, and thoroughly explored. However, routine hematological investigations often fail to identify a definite cause. Here we report about a 23?year-old woman presenting with severe recurrent epistaxis due to Glanzmann’s thrombasthenia—a rare, autosomal recessive disease. Never before Glanzmann’s thrombasthenia has been reported to present with severe epistaxis as its sole feature.