WordNet

a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/07/04 13:41:08」(JST)

wiki en

Glanzmann's thrombasthenia is an abnormality of the platelets.^[1] It is an extremely rare coagulopathy (bleeding disorder due to a blood abnormality), in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen. As a result, no fibrinogen bridging of platelets to other platelets can occur, and the bleeding time is significantly prolonged.

Signs and symptoms

Characteristically, there is increased mucosal bleeding:^[2]

menorrhagia
easy bruising
epistaxis
gingival bleeding
gastrointestinal bleeding
postpartum bleeding
increased bleeding post-operatively.

The bleeding tendency is variable but may be severe. Hemarthrosis, particularly spontaneous, is very rare, in contrast to the hemophilias.

Platelet numbers and morphology are normal. Platelet aggregation is normal with ristocetin, but impaired with other agonists such as ADP, thrombin, collagen or epinephrine.

Cause

Glanzmann's thrombasthenia can be inherited in an autosomal recessive manner^[2]^[3] or acquired as an autoimmune disorder.^[2]^[4]

The bleeding tendency in Glanzmann's thrombasthenia is variable,^[2] some individuals having minimal bruising, while others have frequent, severe, potentially fatal hemorrhages. Moreover, platelet α_IIbβ₃ levels correlate poorly with hemorrhagic severity, as virtually undetectable α_IIbβ₃ levels can correlate with negligible bleeding symptoms, and 10%–15% levels can correlate with severe hemorrhage.^[5] Unidentified factors other than the platelet defect itself may have important roles.^[2]

Pathophysiology

Glanzmann's thrombasthenia is associated with abnormal integrin α_IIbβ₃, formerly known as glycoprotein IIb/IIIa (GpIIb/IIIa),^[6] which is an integrin aggregation receptor on platelets. This receptor is activated when the platelet is stimulated by ADP, epinephrine, collagen, or thrombin. GpIIb/IIIa is essential to blood coagulation since the activated receptor has the ability to bind fibrinogen (as well as von Willebrand factor, fibronectin, and vitronectin), which is required for fibrinogen-dependent platelet-platelet interaction (aggregation).

In contrast, glycoprotein Ib receptors are normal with Glanzmann's thrombasthenia. The role of GpIb is to enable platelet activation by contact with the von Willebrand factor-collagen complex that is exposed when the endothelial blood vessel lining is damaged.

Understanding of the role of GpIIb/IIIa in Glanzmann's thrombasthenia led to the development of GpIIb/IIIa inhibitors, a class of powerful antiplatelet agents.^[3]

Treatment

Therapy involves both preventive measures and treatment of specific bleeding episodes.^[2]

Dental hygiene lessens gingival bleeding^[7]
Avoidance of antiplatelet agents such as aspirin and other anti-inflammatory drugs (NSAIDs) such as ibuprofen and naproxen, and anticoagulants
Iron or folate supplementation may be necessary if excessive or prolonged bleeding has caused anemia
Hepatitis B vaccine
Antifibrinolytic drugs such as tranexamic acid or ε-aminocaproic acid (Amicar)
Desmopressin (DDAVP) does not normalize the bleeding time in Glanzmann's thrombasthenia but anecdotally improves hemostasis
Hormonal contraceptives to control excessive menstrual bleeding
Topical agents such as gelfoam, fibrin sealants, polyethylene glycol polymers, custom dental splints
Platelet transfusions (only if bleeding is severe; risk of platelet alloimmunization)
Recombinant factor VIIa, AryoSeven or NovoSeven FDA approved this drug for the treatment of the disease on July 2014.
Hematopoietic stem cell transplantation (HSCT) for severe recurrent hemorrhages

Eponym

It is named after Eduard Glanzmann (1887-1959), the German pediatrician who originally described it.^[8]^[9]^[10]

References

^ "Glanzmann thrombasthenia" at Dorland's Medical Dictionary
^ ^a ^b ^c ^d ^e ^f Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U. (2010; edition 8: pages 1933-1941) Williams Hematology. McGraw-Hill.ISBN 978-0071621519
^ ^a ^b Seligsohn, Uri (2002). "Glanzmann thrombasthenia: a model disease which paved the way to powerful therapeutic agents". Pathophysiology of Haemostasis and Thrombosis 32 (5-6): 216–7. doi:10.1159/000073569. PMID 13679645.
^ Tholouli E, Hay CR, O'Gorman P, Makris M (2004). "Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder". Br. J. Haematol. 127 (2): 209–13. doi:10.1111/j.1365-2141.2004.05173.x. PMID 15461628.
^ Nurden, Alan T (2006). "Glanzmann thrombasthenia". Orphanet Journal of Rare Diseases 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.
^ Nurden, A. T.; Fiore, M.; Nurden, P.; Pillois, X. (2011). "Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models". Blood 118 (23): 5996–6005. doi:10.1182/blood-2011-07-365635. PMID 21917754.
^ F.Z. Elmouatarif; B. Badre; S. Elarabi (2013). "Thrombasthénie de Glanzmann". Le courrier du dentiste.
^ synd/1289 at Who Named It?
^ Glanzmann, WE (1918). "Hereditäre hämorrhagische Thrombasthenie. Ein Beitrag zur Pathologie der Blutplättchen.[Hereditary haemorrhagic thrombasthenia. A contribution to the pathology of platelets] (German)". Jahrbuch für Kinderheilkunde [Yearbook of Pediatrics] 88 (1-42): 113–141.
^ Kannan, M.; Saxena, R. (2009). "Glanzmann's thrombasthenia: an overview". Clinical and Applied Thrombosis/Hemostasis 15 (2): 152–165. doi:10.1177/1076029608326165. PMID 18930954.

External links

Internet database of mutations giving rise to Glanzmann's thrombasthenia: [1]

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 先天性および後天性血小板機能障害 congenital and acquired disorders of platelet function
2. 非血友病患者における遺伝子組換え第VIIa凝固因子の治療使用 therapeutic uses of recombinant coagulation factor viia in non hemophiliacs
3. 出血症状を有する小児に対するアプローチ approach to the child with bleeding symptoms
4. 出血性素因を有する成人患者へのアプローチ approach to the adult patient with a bleeding diathesis
5. 血小板機能検査 platelet function testing

English Journal

Lessons from recurrent deep vein thrombosis in Glanzmann thrombasthenia.

Ragsdell B, Thachil J.SourceSchool of Medicine, University of Manchester, Manchester, UK.
Haemophilia : the official journal of the World Federation of Hemophilia.Haemophilia.2013 Nov;19(6):e391-3. doi: 10.1111/hae.12261. Epub 2013 Aug 28.
PMID 23992524

Asymmetrical crying face concomitant with Glanzmann's thrombasthenia.

Bay A, Aktekin E, Ergun S, Ozen S.SourceaDivision of Pediatric Hematology, Department of Pediatrics, School of Medicine bDepartment of Pediatrics cDepartment of Medical Biology, Gaziantep University, Gaziantep, Turkey.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.Blood Coagul Fibrinolysis.2013 Oct 12. [Epub ahead of print]
We report a case of a 3-month-old Turkish girl who had clinical and laboratory features of Glanzmann's thrombasthenia associated with asymmetric crying facies (ACF). Although ACF is a minor anomaly, it should not be forgotten that it can be accompanied by major congenital anomalies and if this findi
PMID 24126248

Procoagulant Platelets Form an α-Granule Protein-covered "Cap" on Their Surface That Promotes Their Attachment to Aggregates.

Abaeva AA, Canault M, Kotova YN, Obydennyy SI, Yakimenko AO, Podoplelova NA, Kolyadko VN, Chambost H, Mazurov AV, Ataullakhanov FI, Nurden AT, Alessi MC, Panteleev MA.SourceFrom the Center for Theoretical Problems of Physicochemical Pharmacology, 119991 Moscow, Russia.
The Journal of biological chemistry.J Biol Chem.2013 Oct 11;288(41):29621-32. doi: 10.1074/jbc.M113.474163. Epub 2013 Aug 30.
Strongly activated "coated" platelets are characterized by increased phosphatidylserine (PS) surface expression, α-granule protein retention, and lack of active integrin αIIbβ3. To study how they are incorporated into thrombi despite a lack of free activated integrin, we investigated the structur
PMID 23995838

Japanese Journal

Molecular analysis of a patient with type I Glanzmann thrombasthenia and clinical impact of the presence of anti-αIIbβ3 alloantibodies

KASHIWAGI Hirokazu,KIYOMIZU Kazunobu,KAMAE Tsuyoshi,NAKAZAWA Tsuyoshi,TADOKORO Seiji,TAKIGUCHI Shuji,DOKI Yuichiro,KANAKURA Yuzuru,TOMIYAMA Yoshiaki
International journal of hematology 93(1), 106-111, 2011-01-01
NAID 10029532736

Acute Epidural Hematoma in a Patient With Glanzmann's Thrombasthenia : Case Report

YAMAHATA Hitoshi,HIRAHARA Kazuho,TOMOSUGI Tetsuzo,YAMADA Masahiko,ISHII Takeshi,UETSUHARA Koichi,KAWAKAMI Kiyoshi,ARITA Kazunori
Neurologia medico-chirurgica = 神経外科 50(10), 928-930, 2010-10-15
… A 7-year-old girl with Glanzmann's thrombasthenia (GT) fell and hit her head against a table. …
NAID 10026743268

Surgical Treatment of Cecal Cancer in a Patient with Glanzmann's Thrombasthenia : Report of a Case

KABASHIMA AKIRA,UEDA NAOYUKI,YONEMURA YUSUKE,MASHINO KOJIRO,FUJII KYUZO,IKEDA TETSUO,TASHIRO HIDEYA,SAKATA HISANOBU
Surgery today : the Japanese journal of surgery 39(11), 1002-1005, 2009-11-01
NAID 10025555808

Related Pictures

★リンクテーブル★

リンク元	「グランツマン血小板無力症」「TA」

「グランツマン血小板無力症」

Glanzmann's thrombasthenia
Classification and external resources
Specialty	hematology
ICD-10	D69.1
ICD-9-CM	287.1
OMIM	187800 273800
DiseasesDB	5224
MedlinePlus	001305
eMedicine	med/872
MeSH	D013915
	[edit on Wikidata]

　　[★]

asthenia
英: Glanzmann thrombasthenia, GT, Glanzmann's thrombasthenia
同: 血小板無力症 thrombasthenia TA、Glanzmann血小板無力症、栓球無力症
関: 血小板

血小板数が正常にもかかわらず、血小板凝集能低下により出血時間の延長する疾患
Gp IIb/IIIaの欠損、機能低下

概念

血小板膜のGpIIb/IIIaの量的・質的異常に起因する血小板凝集能の障害による先天性出血性疾患

病因

遺伝形式

常染色体劣性遺伝

疫学

病変形成＆病理

症状

皮膚や粘膜の出血斑

診断

検査

血小板数、血小板形態：正常
出血時間：著明に延長
PT、APTT：正常

治療

予後

予防

「TA」

　　[★]

[1] "Glanzmann thrombasthenia" at Dorland's Medical Dictionary

[Williams2010-8-2] ^ ^a ^b ^c ^d ^e ^f Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U. (2010; edition 8: pages 1933-1941) Williams Hematology. McGraw-Hill.ISBN 978-0071621519

[seligsohn-3] Seligsohn, Uri (2002). "Glanzmann thrombasthenia: a model disease which paved the way to powerful therapeutic agents". Pathophysiology of Haemostasis and Thrombosis 32 (5-6): 216–7. doi:10.1159/000073569. PMID 13679645.

[4] Tholouli E, Hay CR, O'Gorman P, Makris M (2004). "Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder". Br. J. Haematol. 127 (2): 209–13. doi:10.1111/j.1365-2141.2004.05173.x. PMID 15461628.

[Nurden2006-5] Nurden, Alan T (2006). "Glanzmann thrombasthenia". Orphanet Journal of Rare Diseases 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.

[6] Nurden, A. T.; Fiore, M.; Nurden, P.; Pillois, X. (2011). "Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models". Blood 118 (23): 5996–6005. doi:10.1182/blood-2011-07-365635. PMID 21917754.

[F.Z._Elmouatarif.2C_B._Badre.2C_S._Elarabi-7] F.Z. Elmouatarif; B. Badre; S. Elarabi (2013). "Thrombasthénie de Glanzmann". Le courrier du dentiste.

[8] synd/1289 at Who Named It?

[Glanzmann-9] Glanzmann, WE (1918). "Hereditäre hämorrhagische Thrombasthenie. Ein Beitrag zur Pathologie der Blutplättchen.[Hereditary haemorrhagic thrombasthenia. A contribution to the pathology of platelets] (German)". Jahrbuch für Kinderheilkunde [Yearbook of Pediatrics] 88 (1-42): 113–141.

[10] Kannan, M.; Saxena, R. (2009). "Glanzmann's thrombasthenia: an overview". Clinical and Applied Thrombosis/Hemostasis 15 (2): 152–165. doi:10.1177/1076029608326165. PMID 18930954.

匿名

検索

案内

案内

Glanzmann thrombasthenia