Platelet storage pool deficiency
| Platelet storage pool deficiency | |
|---|---|
| Other names | Storage pool platelet disease[1] |
 | |
| Platelet storage pool deficiency is inherited in an autosomal dominant manner | |
| Specialty | Hematology  |
| Symptoms | Anemia[1] |
| Causes | Inherited or acquired[1] |
| Diagnostic method | Flow cytometry, Bleeding time analysis[1] |
| Treatment | Antifibrinolytic medications[2][1] |
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.[3] Individuals with adenosine diphosphate deficient storage pool disease present a prolonged bleeding time due to impaired aggregation response to fibrillar collagen.[citation needed]
Symptoms and signs
The presentation (signs/symptoms) of an individual with platelet storage pool deficiency is as follows:[1]
- 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[4]).[1] Some of the causes of platelet storage pool deficiency when acquired are:[1]
- Hairy-cell leukemia
- Cardiovascularbypass
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[citation needed] one of three types of platelet secretory granule[5]
Platelet α–granules are important in platelet activity, α–granules connect with
Diagnosis
The diagnosis of this condition can be done via the following:[1]
- Flow cytometry
- Bleeding time analysis
- Platelet aggregation functionstudy:
| ADP | Epinephrine | Collagen | Ristocetin | |
|---|---|---|---|---|
| P2Y receptor defect[6] (including Clopidogrel) | Decreased | Normal | Normal | Normal |
| Adrenergic receptor defect[6] | Normal | Decreased | Normal | Normal |
| Collagen receptor defect[6] | Normal | Normal | Decreased or absent | Normal |
| Normal | Normal | Normal | Decreased or absent | |
| Decreased | Decreased | Decreased | Normal or decreased | |
| Storage pool deficiency[7] | Absent second wave | Partial | ||
| Aspirin or aspirin-like disorder | Absent second wave | Absent | Normal | |
Types
This condition may involve the alpha granules or the dense granules.[8] Therefore, the following examples include:
- Platelet alpha-granules
- Dense granules
- δ-Storage pool deficiency[11]
- Hermansky–Pudlak syndrome[12]
- Chédiak–Higashi syndrome[13]
Treatment
Platelet storage pool deficiency has no treatment however management consists of
See also
- Hypocoagulability
- Hypercoagulability
References
- ^ a b c d e f g h i j "Platelet storage pool deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-10-28.
- ^ PMID 21113246.
- ISBN 978-0-12-369367-9.
- ^ Choices, NHS (2017-10-23). "Genetics - Genetic inheritance - NHS Choices". www.nhs.uk. Retrieved 28 October 2017.
- ^ PMID 19450911.
- ^ PMID 20822539.
- ^ a b "Why Perform Platelet Aggregation?". Helena Biosciences. 2015
- ISBN 978-0-12-374419-7. Retrieved 2 November 2010.
- ^ Reserved, Inserm US14 -- All Rights. "Orphanet: Gray platelet syndrome". www.orpha.net. Retrieved 2017-10-29.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "OMIM Entry - # 601709 - Quebec Platelet Disorder". www.omim.org. Retrieved 29 October 2017.
- ISBN 978-0-07-162151-9
- PMID 20301464.update 2017
- ^ Reserved, INSERM US14 -- All Rights. "Orphanet: Chédiak Higashi syndrome". www.orpha.net. Retrieved 29 October 2017.
{{cite web}}: CS1 maint: numeric names: authors list (link)
Further reading
- Sandrock, Kirstin; Zieger, Barbara (2010). "Current Strategies in Diagnosis of Inherited Storage Pool Defects". Transfusion Medicine and Hemotherapy. 37 (5): 248–258. PMID 21113247.
- Gresele, Paolo; Fuster, Valentin; Lopez, Jose A.; Page, Clive P.; Vermylen, Jos (2007). Platelets in Hematologic and Cardiovascular Disorders: A Clinical Handbook. Cambridge University Press. ISBN 9781139468763. Retrieved 26 November 2017.
External links
