Bernard-Soulier syndrome
| Bernard-Soulier syndrome | |
 | |
|---|---|
| Bernard-Soulier syndrome. (Image courtesy of Melih Aktan M.D.) | |
| ICD-10 | D69.1 |
| ICD-9 | 287.1 |
| OMIM | 231200 |
| DiseasesDB | 1356 |
| eMedicine | ped/230 |
| MeSH | D001606 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Synonyms and keywords:
Overview
Historical Perspective
[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
There have been several outbreaks of [disease name], including -----.
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].
Classification
There is no established system for the classification of [disease name].
OR
[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4].
OR
[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3]. [Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].
OR
Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.
OR
If the staging system involves specific and characteristic findings and features: According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].
OR
The staging of [malignancy name] is based on the [staging system].
OR
There is no established system for the staging of [malignancy name].
Pathophysiology
- It is thought that bernard soulier syndrome is the result of the absence or decreased expression of the GPIb/IX/V complex on the surface of the platelets.[1][2][3][4][5][6]
- The GPIb/IX/V complex is the receptor for von Willebrand factor (vWF).
- The GPIb/IX/V complex plays a very important role in hemostasis and thrombosis.[7][8]
- The GPIb/IX/V complex and von Willebrand factor (vWF) ensure normal primary hemostasis by initiating platelet adhesion at sites of vascular injury.[9]
- The GPIb/IX/V complex binds to von Willebrand factor (vWF) and that makes the initial contact adhesion of platelets to exposed vascular endothelium.[10]
- The GPIb/IX/V complex along with von Willebrand factor (vWF) also attach to ruptured plaque in damaged blood vessels.[11]
- And this attachment to ruptured plaque in damaged blood vessels is particularly seen at high shear flow rates (>800s-1).[12][13][14]
- In the formation of deep venous thrombosis GPIb/IX/V complex along with von Willebrand factor (vWF) plays a very critical role.[15][16][17][18][19][20]
- In an year, on an average 900 000 people in the United States suffer from deep vein thrombosis (DVT).
- GPIb-IX-V complex is multisubunit in nature consists of 4 subunits.
- Each of the 4 multisubunit is a member of the leucine-rich,which contains ~24 amino acid and are involved in such processes such as cell signaling, cell adhesion, and development.[21][22]
- In addition to its important role in binding to von Willebrand factor (VWF), this N-terminal domain of GPIbα is a pivotal binding site for multiple ligands mediating platelet interactions with matrix which are involved in thrombosis and inflammation.
- On activated platelets and endothelial cells other adhesive ligand include P-selectin, αMβ2 /CD11b/CD18.[23][24][25]
- The GPIb-IX-V complex plays very crucial role in coagulation especially in intrinsic pathway which has tendency to bind the receptors for thrombin, Factors XI and XII(having the shortest half life of all clotting factors), kininogen and at last to high molecular weight (HMW).[26][27]
- With the help of actin filaments ,Trp570, Phe568 and Trp570, GPIb-IX-V plays a crucial role in maintaining the platelets shape.[28]
- GPIb-IX-V/VWF adhesion was enhanced by NADPH(Nicotinamide adenine dinucleotide phosphate) oxidase, (p47 subunit), PI 3-kinase, Hic-5, TRAF4(TNF receptor-associated factor 4) Lyn, and Syk(Spleen tyrosine kinase) proteins.[29][30][31][32]
Causes
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
Common causes of [disease] include [cause1], [cause2], and [cause3].
OR
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.
Differentiating ((Page name)) from Other Diseases
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
OR
[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].
Epidemiology and Demographics
The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.
OR
In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.
OR
In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.
Patients of all age groups may develop [disease name].
OR
The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.
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[Disease name] commonly affects individuals younger than/older than [number of years] years of age.
OR
[Chronic disease name] is usually first diagnosed among [age group].
OR
[Acute disease name] commonly affects [age group].
There is no racial predilection to [disease name].
OR
[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].
[Disease name] affects men and women equally.
OR
[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.
The majority of [disease name] cases are reported in [geographical region].
OR
[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].
Risk Factors
There are no established risk factors for [disease name].
OR
The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].
OR
Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
OR
Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.
Screening
There is insufficient evidence to recommend routine screening for [disease/malignancy].
OR
According to the [guideline name], screening for [disease name] is not recommended.
OR
According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].
Natural History, Complications, and Prognosis
If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
OR
Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
OR
Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.
Diagnosis
Diagnostic Study of Choice
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
There are no established criteria for the diagnosis of [disease name].
History and Symptoms
The majority of patients with [disease name] are asymptomatic.
OR
The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].
Physical Examination
Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].
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The presence of [finding(s)] on physical examination is diagnostic of [disease name].
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The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
Laboratory Findings
An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].
OR
Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
OR
[Test] is usually normal among patients with [disease name].
OR
Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].
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There are no diagnostic laboratory findings associated with [disease name].
Electrocardiogram
There are no ECG findings associated with [disease name].
OR
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
X-ray
There are no x-ray findings associated with [disease name].
OR
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Echocardiography or Ultrasound
There are no echocardiography/ultrasound findings associated with [disease name].
OR
Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
CT scan
There are no CT scan findings associated with [disease name].
OR
[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
MRI
There are no MRI findings associated with [disease name].
OR
[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
Other Imaging Findings
There are no other imaging findings associated with [disease name].
OR
[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
Other Diagnostic Studies
There are no other diagnostic studies associated with [disease name].
OR
[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
OR
Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].
Treatment
Medical Therapy
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
OR
Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
OR
The majority of cases of [disease name] are self-limited and require only supportive care.
OR
[Disease name] is a medical emergency and requires prompt treatment.
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The mainstay of treatment for [disease name] is [therapy].
OR The optimal therapy for [malignancy name] depends on the stage at diagnosis.
OR
[Therapy] is recommended among all patients who develop [disease name].
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Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
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Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
OR
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
OR
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
Surgery
Surgical intervention is not recommended for the management of [disease name].
OR
Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]
OR
The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].
OR
The feasibility of surgery depends on the stage of [malignancy] at diagnosis.
OR
Surgery is the mainstay of treatment for [disease or malignancy].
Primary Prevention
There are no established measures for the primary prevention of [disease name].
OR
There are no available vaccines against [disease name].
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Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
OR
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].
Secondary Prevention
There are no established measures for the secondary prevention of [disease name].
OR
Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].
References
- ↑ Lanza, François (2006). Orphanet Journal of Rare Diseases. 1 (1): 46. doi:10.1186/1750-1172-1-46. ISSN 1750-1172. Missing or empty
|title=(help) - ↑ Berndt, M. C.; Andrews, R. K. (2011). "Bernard-Soulier syndrome". Haematologica. 96 (3): 355–359. doi:10.3324/haematol.2010.039883. ISSN 0390-6078.
- ↑ Feghhi, Shirin; Munday, Adam D.; Tooley, Wes W.; Rajsekar, Shreya; Fura, Adriane M.; Kulman, John D.; López, Jose A.; Sniadecki, Nathan J. (2016). "Glycoprotein Ib-IX-V Complex Transmits Cytoskeletal Forces That Enhance Platelet Adhesion". Biophysical Journal. 111 (3): 601–608. doi:10.1016/j.bpj.2016.06.023. ISSN 0006-3495.
- ↑ Savage B, Almus-Jacobs F, Ruggeri ZM (September 1998). "Specific synergy of multiple substrate-receptor interactions in platelet thrombus formation under flow". Cell. 94 (5): 657–66. PMID 9741630.
- ↑ Clemetson KJ, Clemetson JM (September 1994). "Molecular abnormalities in Glanzmann's thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrand's disease". Curr. Opin. Hematol. 1 (5): 388–93. PMID 9371310.
- ↑ Ando Y, Fusegawa H, Kawada T, Tanaka Y, Watanabe K, Kobayashi N (December 1989). "[Membrane glycoproteins of human platelets: structures, functions, and abnormalities in Glanzmann's thrombasthenia and Bernard-Soulier syndrome]". Rinsho Byori (in Japanese). 37 (12): 1344–52. PMID 2614964.
- ↑ Yan, Rong; Mo, Xi; Paredes, Angel M.; Dai, Kesheng; Lanza, Francois; Cruz, Miguel A.; Li, Renhao (2011). "Reconstitution of the Platelet Glycoprotein Ib-IX Complex in Phospholipid Bilayer Nanodiscs". Biochemistry. 50 (49): 10598–10606. doi:10.1021/bi201351d. ISSN 0006-2960.
- ↑ Baglia FA, Badellino KO, Li CQ, Lopez JA, Walsh PN (January 2002). "Factor XI binding to the platelet glycoprotein Ib-IX-V complex promotes factor XI activation by thrombin". J. Biol. Chem. 277 (3): 1662–8. doi:10.1074/jbc.M108319200. PMID 11696542.
- ↑ Clemetson KJ (March 2003). "Platelet receptors and their role in diseases". Clin. Chem. Lab. Med. 41 (3): 253–60. doi:10.1515/CCLM.2003.039. PMID 12705329.
- ↑ Feghhi S, Munday AD, Tooley WW, Rajsekar S, Fura AM, Kulman JD, López JA, Sniadecki NJ (August 2016). "Glycoprotein Ib-IX-V Complex Transmits Cytoskeletal Forces That Enhance Platelet Adhesion". Biophys. J. 111 (3): 601–608. doi:10.1016/j.bpj.2016.06.023. PMC 4982925. PMID 27508443.
- ↑ Romo GM, Dong JF, Schade AJ, Gardiner EE, Kansas GS, Li CQ, McIntire LV, Berndt MC, López JA (September 1999). "The glycoprotein Ib-IX-V complex is a platelet counterreceptor for P-selectin". J. Exp. Med. 190 (6): 803–14. PMC 2195629. PMID 10499919.
- ↑ Cranmer SL, Ulsemer P, Cooke BM, Salem HH, de la Salle C, Lanza F, Jackson SP (March 1999). "Glycoprotein (GP) Ib-IX-transfected cells roll on a von Willebrand factor matrix under flow. Importance of the GPib/actin-binding protein (ABP-280) interaction in maintaining adhesion under high shear". J. Biol. Chem. 274 (10): 6097–106. PMID 10037692.
- ↑ Wu YP, Vink T, Schiphorst M, van Zanten GH, IJsseldijk MJ, de Groot PG, Sixma JJ (June 2000). "Platelet thrombus formation on collagen at high shear rates is mediated by von Willebrand factor-glycoprotein Ib interaction and inhibited by von Willebrand factor-glycoprotein IIb/IIIa interaction". Arterioscler. Thromb. Vasc. Biol. 20 (6): 1661–7. PMID 10845886.
- ↑ Fredrickson BJ, Dong JF, McIntire LV, López JA (November 1998). "Shear-dependent rolling on von Willebrand factor of mammalian cells expressing the platelet glycoprotein Ib-IX-V complex". Blood. 92 (10): 3684–93. PMID 9808562.
- ↑ Brill A, Fuchs TA, Chauhan AK, Yang JJ, De Meyer SF, Köllnberger M, Wakefield TW, Lämmle B, Massberg S, Wagner DD (January 2011). "von Willebrand factor-mediated platelet adhesion is critical for deep vein thrombosis in mouse models". Blood. 117 (4): 1400–7. doi:10.1182/blood-2010-05-287623. PMC 3056477. PMID 20959603.
- ↑ Brill, A.; Fuchs, T. A.; Chauhan, A. K.; Yang, J. J.; De Meyer, S. F.; Kollnberger, M.; Wakefield, T. W.; Lammle, B.; Massberg, S.; Wagner, D. D. (2010). "von Willebrand factor-mediated platelet adhesion is critical for deep vein thrombosis in mouse models". Blood. 117 (4): 1400–1407. doi:10.1182/blood-2010-05-287623. ISSN 0006-4971.
- ↑ De Meyer, S. F.; Stoll, G.; Wagner, D. D.; Kleinschnitz, C. (2011). "von Willebrand Factor: An Emerging Target in Stroke Therapy". Stroke. 43 (2): 599–606. doi:10.1161/STROKEAHA.111.628867. ISSN 0039-2499.
- ↑ . doi:10.1161/CIRCRESAHA.117.311185/-/DC1. Missing or empty
|title=(help) - ↑ Biedermann, J. S.; Cannegieter, S. C.; Roest, M.; van der Meer, F. J. M.; Reitsma, P. H.; Kruip, M. J. H. A.; Lijfering, W. M. (2016). "Platelet reactivity in patients with venous thrombosis who use rosuvastatin: a randomized controlled clinical trial". Journal of Thrombosis and Haemostasis. 14 (7): 1404–1409. doi:10.1111/jth.13343. ISSN 1538-7933.
- ↑ Fuchs, T. A.; Brill, A.; Wagner, D. D. (2012). "Neutrophil Extracellular Trap (NET) Impact on Deep Vein Thrombosis". Arteriosclerosis, Thrombosis, and Vascular Biology. 32 (8): 1777–1783. doi:10.1161/ATVBAHA.111.242859. ISSN 1079-5642.
- ↑ Kobe B, Deisenhofer J (October 1994). "The leucine-rich repeat: a versatile binding motif". Trends Biochem. Sci. 19 (10): 415–21. PMID 7817399.
- ↑ Kobe B, Deisenhofer J (March 1995). "A structural basis of the interactions between leucine-rich repeats and protein ligands". Nature. 374 (6518): 183–6. doi:10.1038/374183a0. PMID 7877692.
- ↑ Romo, Gabriel M.; Dong, Jing-Fei; Schade, Alicia J.; Gardiner, Elizabeth E.; Kansas, Geoffrey S.; Li, Chester Q.; McIntire, Larry V.; Berndt, Michael C.; López, José A. (1999). "The Glycoprotein Ib-IX-V Complex Is a Platelet Counterreceptor for P-Selectin". The Journal of Experimental Medicine. 190 (6): 803–814. doi:10.1084/jem.190.6.803. ISSN 0022-1007.
- ↑ Romo GM, Dong JF, Schade AJ, Gardiner EE, Kansas GS, Li CQ, McIntire LV, Berndt MC, López JA (September 1999). "The glycoprotein Ib-IX-V complex is a platelet counterreceptor for P-selectin". J. Exp. Med. 190 (6): 803–14. PMC 2195629. PMID 10499919.
- ↑ Du, Xiaoping (2007). "Signaling and regulation of the platelet glycoprotein Ib–IX–V complex". Current Opinion in Hematology. 14 (3): 262–269. doi:10.1097/MOH.0b013e3280dce51a. ISSN 1065-6251.
- ↑ Li R, Emsley J (April 2013). "The organizing principle of the platelet glycoprotein Ib-IX-V complex". J. Thromb. Haemost. 11 (4): 605–14. doi:10.1111/jth.12144. PMC 3696474. PMID 23336709.
- ↑ Romo GM, Dong JF, Schade AJ, Gardiner EE, Kansas GS, Li CQ, McIntire LV, Berndt MC, López JA (September 1999). "The glycoprotein Ib-IX-V complex is a platelet counterreceptor for P-selectin". J. Exp. Med. 190 (6): 803–14. PMC 2195629. PMID 10499919.
- ↑ Arya M, Kolomeisky AB, Romo GM, Cruz MA, López JA, Anvari B (June 2005). "Dynamic force spectroscopy of glycoprotein Ib-IX and von Willebrand factor". Biophys. J. 88 (6): 4391–401. doi:10.1529/biophysj.104.046318. PMC 1305666. PMID 15764659.
- ↑ Shibanuma, Motoko; Mori, Kazunori; Nose, Kiyoshi (2012). "HIC-5: A Mobile Molecular Scaffold Regulating the Anchorage Dependence of Cell Growth". International Journal of Cell Biology. 2012: 1–8. doi:10.1155/2012/426138. ISSN 1687-8876.
- ↑ Feghhi S, Munday AD, Tooley WW, Rajsekar S, Fura AM, Kulman JD, López JA, Sniadecki NJ (August 2016). "Glycoprotein Ib-IX-V Complex Transmits Cytoskeletal Forces That Enhance Platelet Adhesion". Biophys. J. 111 (3): 601–608. doi:10.1016/j.bpj.2016.06.023. PMC 4982925. PMID 27508443.
- ↑ Arthur JF, Shen Y, Gardiner EE, Coleman L, Murphy D, Kenny D, Andrews RK, Berndt MC (January 2011). "TNF receptor-associated factor 4 (TRAF4) is a novel binding partner of glycoprotein Ib and glycoprotein VI in human platelets". J. Thromb. Haemost. 9 (1): 163–72. doi:10.1111/j.1538-7836.2010.04091.x. PMID 20946164.
- ↑ Carrim N, Walsh TG, Consonni A, Torti M, Berndt MC, Metharom P (2014). "Role of focal adhesion tyrosine kinases in GPVI-dependent platelet activation and reactive oxygen species formation". PLoS ONE. 9 (11): e113679. doi:10.1371/journal.pone.0113679. PMC 4240642. PMID 25415317.