Platelet storage pool deficiency explained

Platelet storage pool deficiency
Synonyms:	Storage pool platelet disease
Symptoms:	Anemia
Causes:	Inherited or acquired
Diagnosis:	Flow cytometry, Bleeding time analysis
Treatment:	Antifibrinolytic medications

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

Symptoms and signs

The presentation (signs/symptoms) of an individual with platelet storage pool deficiency is as follows:^[2]

• Unusual bleeding(after surgical procedure)

• Anemia

• Decrease mean platelet volume

• Myelodysplasia

Cause

The condition of platelet storage pool deficiency can be acquired or inherited (genetically passed on from the individuals parents^[3]).^[2] Some of the causes of platelet storage pool deficiency when acquired are:^[2]

• Hairy-cell leukemia

• Cardiovascular bypass

Mechanism

In terms of the pathophysiology of platelet storage pool deficiency one must consider several factors including the human body's normal function prior to such a deficiency, such as platelet alpha-granules one of three types of platelet secretory granule

Platelet α–granules are important in platelet activity, α–granules connect with plasma membrane. This in turn increases the size of the platelet. Platelet α–granules have an important role in hemostasis as well as thrombosis. SNARE accessory proteins control the secretion of α–granule.^[4]

Diagnosis

The diagnosis of this condition can be done via the following:^[2]

• Flow cytometry
• Bleeding time analysis
• Platelet aggregation function study:

Types

This condition may involve the alpha granules or the dense granules.^[5] Therefore, the following examples include:

• Platelet alpha-granules
  • Gray platelet syndrome^[6]
  • Quebec platelet disorder^[7]
• Dense granules
  • δ-Storage pool deficiency^[8]
  • Hermansky–Pudlak syndrome^[9]
  • Chédiak–Higashi syndrome^[10]

Treatment

Platelet storage pool deficiency has no treatment however management consists of antifibrinolytic medications if the individual has unusual bleeding event, additionally caution should be taken with usage of NSAIDS^{[2] [11]}

See also

• Hypocoagulability
• Hypercoagulability

Further reading

• Sandrock. Kirstin. Zieger. Barbara. Current Strategies in Diagnosis of Inherited Storage Pool Defects. Transfusion Medicine and Hemotherapy. 2010. 37. 5. 248–258. 10.1159/000320279. 1660-3796. 2980509. 21113247.
• Book: Gresele. Paolo. Fuster. Valentin. Lopez. Jose A.. Page. Clive P.. Vermylen. Jos. Platelets in Hematologic and Cardiovascular Disorders: A Clinical Handbook. 2007. Cambridge University Press. 9781139468763. 26 November 2017. en.

External links

• PubMed

Notes and References

1. Book: Alan D. Michelson . Platelets . limited . Academic Press/Elsevier . Burlington, MA . 2007 . 313 . 978-0-12-369367-9 .
2. Web site: Platelet storage pool deficiency Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. en. 2017-10-28.
3. Web site: Choices. NHS. Genetics - Genetic inheritance - NHS Choices. www.nhs.uk. 28 October 2017. en. 2017-10-23.
4. Blair. Price. Flaumenhaft. Robert. Platelet alpha-granules: basic biology and clinical correlates. Blood Reviews. 2009. 23. 4. 177–189. 10.1016/j.blre.2009.04.001. 1532-1681. 19450911. 2720568.
5. Book: William B. Coleman. Gregory J. Tsongalis. Molecular pathology: the molecular basis of human disease. 2 November 2010. 2009. Academic Press. 978-0-12-374419-7. 258–.
6. Web site: Orphanet: Gray platelet syndrome. Reserved. Inserm US14 -- All Rights. www.orpha.net. en. 2017-10-29.
7. Web site: OMIM Entry - # 601709 - Quebec Platelet Disorder . www.omim.org. 29 October 2017. en-us.
8. Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U. (2010; edition 8: pages 1946–1948) Williams Hematology. McGraw-Hill.
9. Book: https://www.ncbi.nlm.nih.gov/books/NBK1287/. GeneReviews. Huizing. Marjan. Malicdan. May Christine V.. Gochuico. Bernadette R.. Gahl. William A.. 1993. University of Washington, Seattle. Adam. Margaret P.. Seattle (WA). 20301464. Ardinger. Holly H.. Pagon. Roberta A.. Wallace. Stephanie E.. Bean. Lora J.H.. Mefford. Heather C.. Stephens. Karen. Amemiya. Anne. Ledbetter. Nikki. Hermansky-Pudlak Syndrome. update 2017
10. Web site: Reserved. INSERM US14 -- All Rights. Orphanet: Chédiak Higashi syndrome. www.orpha.net. 29 October 2017. en.
11. Kirchmaier. Carl Maximilian. Pillitteri. Daniele. Diagnosis and Management of Inherited Platelet Disorders. Transfusion Medicine and Hemotherapy. October 2010. 37. 5. 237–246. 10.1159/000320257. 1660-3796. 2980508. 21113246.