Platelet storage pool deficiency

Platelet storage pool deficiency
Classification and external resources
Specialty	hematology
ICD-10	D69.1
OMIM	185050
MeSH	D010981

Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in platelets, particularly a lack of granular non-metabolic ADP.^[1] Patients with ADP deficient "Storage Pool Disease" present a prolonged bleeding time due to impaired aggregation response to fibrillar collagen.

It may involve the alpha granules or the dense granules.^[2]

Conditions

Examples include:

Platelet alpha-granules
- Gray platelet syndrome^[3]
- Quebec platelet disorder
Dense granules
- δ-Storage pool deficiency^[4]
- Hermansky-Pudlak syndrome^[5]
- Chediak-Higashi syndrome^[6]

References

↑ Alan D. Michelson (2007). Platelets. Burlington, MA: Academic Press/Elsevier. p. 313. ISBN 0-12-369367-5.
↑ William B. Coleman; Gregory J. Tsongalis (2009). Molecular pathology: the molecular basis of human disease. Academic Press. pp. 258–. ISBN 978-0-12-374419-7. Retrieved 2 November 2010.
↑ Hayward CP, Weiss HJ, Lages B, et al. (June 2001). "The storage defects in grey platelet syndrome and alphadelta-storage pool deficiency affect alpha-granule factor V and multimerin storage without altering their proteolytic processing". Br. J. Haematol. 113 (4): 871–7. doi:10.1046/j.1365-2141.2001.02833.x. PMID 11442477.
↑ Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U. (2010; edition 8: pages 1946–1948) Williams Hematology. McGraw-Hill. ISBN 978-0-07-162151-9
↑ Huizing M, Anikster Y, Fitzpatrick DL, et al. (November 2001). "Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency". Am. J. Hum. Genet. 69 (5): 1022–32. doi:10.1086/324168. PMC 1274349. PMID 11590544.
↑ Novak EK, McGarry MP, Swank RT (November 1985). "Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome". Blood. 66 (5): 1196–201. PMID 3902123.

Diseases of clotting (D50–69,74, 280–287)

Coagulation/
coagulopathy

↑

Hyper- coagulability	primary: Antithrombin III deficiency Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden Prothrombin G20210A Sticky platelet syndrome acquired:Thrombocytosis essential DIC Purpura fulminans autoimmune Antiphospholipid

↓

Hypo-
coagulability

Thrombocytopenia	Thrombocytopenic purpura: ITP Evans syndrome TM TTP Upshaw Schulman syndrome Heparin-induced thrombocytopenia May–Hegglin anomaly

Platelet function	adhesion Bernard–Soulier syndrome aggregation Glanzmann's thrombasthenia platelet storage pool deficiency Hermansky–Pudlak syndrome Gray platelet syndrome

Clotting factor	Hemophilia A/VIII B/IX C/XI von Willebrand disease Hypoprothrombinemia/II XIII Dysfibrinogenemia Congenital afibrinogenemia

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