Bernard-Soulier syndrome

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

Bernard-Soulier syndrome (BSS, named after Jean Bernard and Jean Pierre Soulier) is a genetic deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor that is important in clot formation. It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury. A good website for more information is www.B-SS.org.

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v • d • e Pathology: hematology (primarily C81-C96/200-208, D45-D47, D50-D77/280-289)
WBCs	hematological malignancy (lymphoma, leukemia, multiple myeloma), myeloproliferative disease, myelodysplastic syndrome -cytosis (Agranulocytosis, Leukocytosis, Lymphocytosis, Monocytosis) • -penia (Lymphopenia, Neutropenia)
RBCs/anemia/ hemoglobinopathy	nutritional anemia: Iron deficiency anemia, Plummer-Vinson syndrome, Megaloblastic anemia (Pernicious anemia) hereditary hemolytic anemia: G6PD Deficiency, Thalassemia, Sickle-cell disease/trait, Hereditary spherocytosis, Hereditary elliptocytosis, Hereditary stomatocytosis acquired hemolytic anemia: Autoimmune (Warm), HUS, MAHA, PNH, PCH aplastic anemia: Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia • Sideroblastic anemia • Hemochromatosis
Coagulation/platelets	coagulopathy: DIC • Hemophilia (A/VII, B/IX, C/XI, XIII) • Von Willebrand disease Purpura: Henoch-Schönlein, ITP (Evans syndrome), TTP primary hypercoagulable state: Protein C deficiency - Protein S deficiency - Antithrombin III deficiency - Antiphospholipid syndrome - Factor V Leiden other hemorrhagic conditions: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Grey platelet syndrome
Histiocytosis	WHO-I Langerhans cell histiocytosis - non-Langerhans-cell histiocytosis/WHO-II (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis) - malignant histiocytic disorders/WHO-III (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease)
Other	Asplenia/hyposplenism - Methemoglobinemia