Bernard–Soulier syndrome
| Bernard-Soulier syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | D69.1 |
| ICD-9-CM | 287.1 |
| OMIM | 231200 |
| DiseasesDB | 1356 |
| eMedicine | ped/230 |
| Patient UK | Bernard–Soulier syndrome |
| MeSH | D001606 |
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.
Contents
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have been reversed in BSS mice by expression of an α-subunit of GPIb in which most of the extracytoplasmic sequence has been replaced by an isolated domain of the α-subunit of the human IL-4 receptor but in which the cytoplasmic sequence is normal.[4]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]
Genetics
There are three forms:[6]
Eponym
The syndrome is named after Dr. Jean Bernard and Dr. Jean Pierre Soulier.[7][8]
References
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ 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
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) GIANT PLATELET SYNDROME -231200
- ↑ synd/2075 at Who Named It?
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
- http://www.bernardsoulier.org/
- http://www.B-SS.org
- Lua error in package.lua at line 80: module 'strict' not found.
- Giant platelet syndrome; Bernard-Soulier syndrome; Deficiency of Platelet glycoprotein 1b at NIH's Office of Rare Diseases
