WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
French physiologist noted for research on secretions of the alimentary canal and the glycogenic function of the liver (1813-1878) (同)Claude_Bernard

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/11 13:32:03」(JST)

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Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy,^[1] is a rare autosomal recessive coagulopathy (bleeding disorder) that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor, an important glycoprotein involved in hemostasis.

The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan.^[2]

BSS is a giant platelet disorder, meaning that it is characterized by abnormally large platelets.

Signs and symptoms

As with other congenital platelet function defects, BSS often presents as a bleeding disorder with symptoms of:^[3]

Perioperative and postoperative bleeding
Bleeding gums
Easy bruising
Heavy menstrual periods
Epistaxis (nosebleeds)
Abnormally prolonged bleeding from small injuries

Diagnosis

Characterized by prolonged bleeding time, thrombocytopenia (likely due to decreased platelet survival), increased megakaryocytes (bone marrow platelet progenitors), and enlarged platelets, Bernard–Soulier syndrome is associated with quantitative or qualitative defects of the platelet glycoprotein complex GPIb/V/IX. The degree of thrombocytopenia may be estimated incorrectly, due to the possibility that when the platelet count is performed with automatic counters, giant platelets (which may be as frequent as 70–80% in occasional patients) may reach the size of red blood cells and, as a consequence, are not recognized as platelets by the counters. The large platelets and low platelet count in BSS are seemingly due to the absence of GPIbα and the filamin A binding site that links the GPIb-IX-V complex to the platelet membrane skeleton, as the enlarged platelet abnormality and low platelet count have been reversed in BSS mice by expression of an α-subunit of GPIb in which most of the extracytoplasmic sequence has been replaced by an isolated domain of the α-subunit of the human IL-4 receptor but in which the cytoplasmic sequence is normal.^[4]

BSS platelets do not aggregate to ristocetin, and this defect is not corrected by the addition of normal plasma, distinguishing it from von Willebrand disease. The platelet responses to physiologic agonists is normal, with the exception of low concentrations of thrombin. Bleeding events, which may be very severe, can be controlled by platelet transfusion. Most heterozygotes, with few exceptions, do not have a bleeding diathesis.

BSS presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury.^[5]

Laboratory findings in various platelet and coagulation disorders (V - T)
Condition	Prothrombin time	Partial thromboplastin time	Bleeding time	Platelet count
Vitamin K deficiency or warfarin	Prolonged	Normal or mildly prolonged	Unaffected	Unaffected
Disseminated intravascular coagulation	Prolonged	Prolonged	Prolonged	Decreased
Von Willebrand disease	Unaffected	Prolonged or unaffected	Prolonged	Unaffected
Hemophilia	Unaffected	Prolonged	Unaffected	Unaffected
Aspirin	Unaffected	Unaffected	Prolonged	Unaffected
Thrombocytopenia	Unaffected	Unaffected	Prolonged	Decreased
Liver failure, early	Prolonged	Unaffected	Unaffected	Unaffected
Liver failure, end-stage	Prolonged	Prolonged	Prolonged	Decreased
Uremia	Unaffected	Unaffected	Prolonged	Unaffected
Congenital afibrinogenemia	Prolonged	Prolonged	Prolonged	Unaffected
Factor V deficiency	Prolonged	Prolonged	Unaffected	Unaffected
Factor X deficiency as seen in amyloid purpura	Prolonged	Prolonged	Unaffected	Unaffected
Glanzmann's thrombasthenia	Unaffected	Unaffected	Prolonged	Unaffected
Bernard-Soulier syndrome	Unaffected	Unaffected	Prolonged	Decreased or unaffected
Factor XII deficiency	Unaffected	Prolonged	Unaffected	Unaffected
C1INH deficiency	Unaffected	Shortened	Unaffected	Unaffected

Genetics

Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance.

There are three forms:^[6]

Type A - GP1BA
Type B - GP1BB
Type C - GP9

Eponym

The syndrome is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier.^[7]^[8]

References

^ Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis 16 (1): 46. doi:10.1186/1750-1172-1-46. PMC 1660532. PMID 17109744.
^ Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome Georgia Kostopanagiotou MD, Ioanna Siafaka MDa, Constantinos Sikiotis MDa, and Vassilios Smyrniotis MDa. Received 23 July 2003; Revised 21 October 2003
^ Dugdale, David. "Congenital platelet function defects". NIH. Retrieved 13 October 2012.
^ Kanaji, T; Russell, S; Ware, J (Sep 15, 2002). "Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome.". Blood 100 (6): 2102–7. doi:10.1182/blood-2002-03-0997. PMID 12200373.
^ Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder". Arch. Pathol. Lab. Med. 131 (12): 1834–6. doi:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2. PMID 18081445. (subscription required (help)).
^ Online 'Mendelian Inheritance in Man' (OMIM) GIANT PLATELET SYNDROME -231200
^ synd/2075 at Who Named It?
^ Bernard J, Soulier JP (December 1948). "[Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congénitale]". Semaine des Hôpitaux de Paris (in French) 24 (Spec. No.): 3217–23. PMID 18116504.

External links

http://www.bernardsoulier.org/
http://www.B-SS.org
De Marco L, Mazzucato M, Fabris F; et al. (July 1990). "Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex". J. Clin. Invest. 86 (1): 25–31. doi:10.1172/JCI114692. PMC 296685. PMID 1694864.
Giant platelet syndrome; Bernard-Soulier syndrome; Deficiency of Platelet glycoprotein 1b at NIH's Office of Rare Diseases

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. 小児における血小板減少症の原因 causes of thrombocytopenia in children
3. 原因不明の血小板減少症を有する成人に対するアプローチ approach to the adult with unexplained thrombocytopenia
4. von Willebrand病の臨床症状および診断 clinical presentation and diagnosis of von willebrand disease
5. 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

English Journal

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.

Glembotsky AC, Marta RF, Pecci A, DE Rocco D, Gnan C, Espasandin YR, Goette NP, Negro F, Noris P, Savoia A, Balduini CL, Molinas FC, Heller PG.SourceDepartment of Hematology Research, Instituto de Investigaciones Médicas Alfredo Lanari, University of Buenos Aires, CONICET, Buenos Aires, Argentina Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, Italy Department of Pediatric Hemato-Oncology, Sanatorio Sagrado Corazón, Buenos Aires, Argentina Department of Medical Sciences, University of Trieste, Trieste, Italy.
Journal of thrombosis and haemostasis : JTH.J Thromb Haemost.2012 Aug;10(8):1653-1661. doi: 10.1111/j.1538-7836.2012.04805.x.
Summary. Background: Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resource-limited settings. To overcome this difficulty, we a
PMID 22672365

A longitudinal prospective study of bleeding diathesis in Egyptian pediatric patients: single-center experience.

Mokhtar GM, Tantawy AA, Adly AA, Telbany MA, Arab SE, Ismail M.SourceaPediatric Department bClinical Pathology Department cPublic Health Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.Blood Coagul Fibrinolysis.2012 Jul;23(5):411-8.
Keeping an updated registry of bleeding disorders is crucial for planning care and documenting prevalence. We aimed to assess the prevalence of various bleeding disorders including rare inherited coagulation and platelet disorders concerning their clinico-epidemiological, diagnostic data and bleedin
PMID 22610136

Japanese Journal

Successful perioperative management for a breast cancer patient with Bernard-Soulier syndrome

OKITA Riki,HIHARA Jun,KONISHI Kazuo,OSAKI Akihiko,FUJIMURA Kingo
Breast cancer : the journal of the Japanese Breast Cancer Society 19(1), 88-92, 2012-01-01
NAID 10030568779

血小板の微細構造 (特集血小板--核のない"細胞")

鈴木英紀
細胞 43(2), 51-55, 2011-02
NAID 40018744095

先天性巨大血小板症の鑑別診断

國島伸治
日本血栓止血学会誌 22(3), 100-106, 2011
NAID 130000823244

Related Pictures

★リンクテーブル★

リンク元	「ベルナール・スリエ症候群」「フォンウィルブランド因子」「BSS」
関連記事	「syndrome」

「ベルナール・スリエ症候群」

Bernard-Soulier syndrome
Classification and external resources
Specialty	hematology
ICD-10	D69.1
ICD-9-CM	287.1
OMIM	231200
DiseasesDB	1356
eMedicine	ped/230
MeSH	D001606

　　[★]

英: Bernard-Soulier syndrome, BSS
同: Bernard-Soulier症候群
関: 血小板、出血性疾患

概念

von Willebrand病と同様に、皮膚・粘膜下出血、リストセチン凝集欠如。ADP凝集やコラーゲン凝集は正常であるが、vWF活性が正常、血小板軽度減少する点が異なる。

血液検査結果はGlanzmann's thrombastheniaに似る　→　出血性疾患

病因

GpIb/GpIX/GpV複合体の欠如・減少。　←　GpIbα、GpIbβ、GpIXの遺伝子変異&発現の低下による

これらは血小板上で複合体を形成し、コラーゲンに結合したフォンウイルブランド因子と結合する。これらが失われることで(特に流れの速い血管部位で)血小板の凝集が起こらなくなる。これにより出血時間が延長する。

疫学

常染色体劣性遺伝

病変形成＆病理

症状

出血傾向は生後より出現
皮膚・粘膜下出血、鼻出血、歯肉出血、性器出血、血尿、消化管出血

検査

末梢血血小板：巨大血小板の出現(直径15-20μm)
出血時間：延長
骨髄巨核球数：正常。
血小板数：正常ないし減少。
血小板機能検査

リストセチン凝集、トロンビン凝集：欠如or低下
ADP凝集：正常
コラーゲン凝集：正常

血小板表面マーカーCD42b：著減

診断

治療

特異的な治療法はなし。
新鮮血小板輸血が最も確実な止血法。

予後

予防

「フォンウィルブランド因子」

　　[★]

英: von Willebrand factor (BPT), vWF, VWF
同: フォンビルブラント因子、フォンウィルブランド因子、von Willebrand因子、vW因子？
関: 血液凝固因子

概念

血小板がコラーゲン等に結合するのに必須の補助因子

構造

ジスルフィド結合によりマルチマーを形成しており、分子量は500～20,000kDa以上に分布している。

産生組織

血管内皮、巨核球

存在部位

血漿中にあり循環。血漿、血小板、α顆粒、内皮下組織などに存在(SAN.236)

半減期

24時間

機能

コラーゲンと血小板を結合させる

血管内皮細胞が脱落しその下の細胞外マトリクスが露出されると、血漿中のフォンウィルブランド因子が細胞マトリックスに結合し、これを足場に血小板のGpIb/GpIX複合体を介して血小板が結合する

第VIII因子と結合し担体として機能。

臨床関連

フォンウィルブランド因子の機能異常

vWFのレセプター異常

ベルナール・スリエ症候群 Bernard-Soulier syndrome

「BSS」

　　[★] ベルナール・スリエ症候群 Bernard-Soulier syndrome

「syndrome」

　　[★]

n.

症候群

[htd-1] Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis 16 (1): 46. doi:10.1186/1750-1172-1-46. PMC 1660532. PMID 17109744.

[2] Anesthetic and perioperative management of a patient with Bernard-Soulier syndrome Georgia Kostopanagiotou MD, Ioanna Siafaka MDa, Constantinos Sikiotis MDa, and Vassilios Smyrniotis MDa. Received 23 July 2003; Revised 21 October 2003

[PubMed_Congenital_platelet_function_defect-3] Dugdale, David. "Congenital platelet function defects". NIH. Retrieved 13 October 2012.

[4] Kanaji, T; Russell, S; Ware, J (Sep 15, 2002). "Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome.". Blood 100 (6): 2102–7. doi:10.1182/blood-2002-03-0997. PMID 12200373.

[pmid18081445-5] Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder". Arch. Pathol. Lab. Med. 131 (12): 1834–6. doi:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2. PMID 18081445. (subscription required (help)).

[6] Online 'Mendelian Inheritance in Man' (OMIM) GIANT PLATELET SYNDROME -231200

[7] synd/2075 at Who Named It?

[8] Bernard J, Soulier JP (December 1948). "[Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congénitale]". Semaine des Hôpitaux de Paris (in French) 24 (Spec. No.): 3217–23. PMID 18116504.

匿名

検索

案内

Bernard-Soulier syndrome