Platelet storage pool deficiency

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Platelet storage pool deficiency
Other namesStorage pool platelet disease [1]
Autosomal dominant - en.svg
Platelet storage pool deficiency is inherited in an autosomal dominant manner
Specialty Hematology   OOjs UI icon edit-ltr-progressive.svg
Symptoms Anemia [1]
CausesInherited or acquired [1]
Diagnostic method Flow cytometry, Bleeding time analysis [1]
TreatmentAntifibrinolytic medications [2] [1]

Platelet storage pool deficiency is a family of clotting disorders characterized by deficient granules in platelets. Individuals with these disorders have too few or abnormally functioning alpha granules, delta granules, or both alpha and delta granules and are therefore unable to form effective clots, which leads to prolonged bleeding. [3] [4] Platelet storage pool deficiency can be acquired or inherited. [3]

Contents

Symptoms and signs

Anemia Iron deficiency anemia blood film.jpg
Anemia

The symptoms individuals with platelet storage pool deficiency may experience include the following: [4]

Severity can vary widely from person to person, and individuals with platelet storage pool deficiency may not experience all of the above symptoms. [3]

Cause

Hairy cell leukemia Hairy cell leukemia.jpg
Hairy cell leukemia

Platelet storage pool deficiency can be acquired or inherited. Inheritance may be autosomal dominant or autosomal recessive, depending on the specific disorder.

Some of the causes of platelet storage pool deficiency when acquired are: [5]

Mechanism

Platelet structure Platelet structure.png
Platelet structure

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. [6]

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. [6]

Diagnosis

On for example optical densitometry, a first and second wave of platelet aggregation is seen, in this case for an ADP-initiated aggregation. The second wave is absent in platelet storage pool deficiency. First and second wave of platelet aggregation.png
On for example optical densitometry, a first and second wave of platelet aggregation is seen, in this case for an ADP-initiated aggregation. The second wave is absent in platelet storage pool deficiency.

The diagnosis of this condition can be done via the following: [1]

Platelet aggregation function by disorders and agonists   edit
ADP Epinephrine Collagen Ristocetin
P2Y receptor defect [7] (including Clopidogrel)DecreasedNormalNormalNormal
Adrenergic receptor defect [7] NormalDecreasedNormalNormal
Collagen receptor defect [7] NormalNormalDecreased or absentNormal
NormalNormalNormalDecreased or absent
DecreasedDecreasedDecreasedNormal or decreased
Storage pool deficiency [8] Absent second wavePartial
Aspirin or aspirin-like disorderAbsent second waveAbsentNormal

Types

This condition may involve the alpha granules or the dense granules. [9] Some common inherited disorders associated with each include the following:

Flow cytometry analysis FACS-toestel.JPG
Flow cytometry analysis

Treatment

Platelet storage pool deficiency usually requires no daily treatment, although many individuals with heavy menstrual bleeding take hormonal contraceptives to reduce menstrual symptoms. [15] However, management of uncontrolled bleeding consists of antifibrinolytic medications or transfusion of normal blood products. Additionally, caution should be taken with usage of NSAIDS, since they thin the blood and further impair clotting. [1] [2]

See also

Related Research Articles

<span class="mw-page-title-main">Platelet</span> Component of blood aiding in coagulation

Platelets or thrombocytes are a blood component whose function is to react to bleeding from blood vessel injury by clumping, thereby initiating a blood clot. Platelets have no cell nucleus; they are fragments of cytoplasm derived from the megakaryocytes of the bone marrow or lung, which then enter the circulation. Platelets are found only in mammals, whereas in other vertebrates, thrombocytes circulate as intact mononuclear cells.

<span class="mw-page-title-main">Haemophilia C</span> Medical condition

Haemophilia C (also known as plasma thromboplastin antecedent deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. It predominantly occurs in Ashkenazi Jews. It is the fourth most common coagulation disorder after von Willebrand's disease and haemophilia A and B. In the United States, it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A.

<span class="mw-page-title-main">Glanzmann's thrombasthenia</span> Medical condition

Glanzmann's thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy, in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen. As a result, no fibrinogen bridging of platelets to other platelets can occur, and the bleeding time is significantly prolonged.

<span class="mw-page-title-main">Dense granule</span>

Dense granules are specialized secretory organelles. Dense granules are found only in platelets and are smaller than alpha granules. The origin of these dense granules is still unknown, however, it is thought that may come from the mechanism involving the endocytotic pathway. Dense granules are a sub group of lysosome-related organelles (LRO). There are about three to eight of these in a normal human platelet.

<span class="mw-page-title-main">Chédiak–Higashi syndrome</span> Medical condition

Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.

Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections. It causes severe pyogenic infections. It can be caused by autosomal dominant inheritance of the ELANE gene, autosomal recessive inheritance of the HAX1 gene. There is an increased risk of leukemia and myelodysplastic cancers.

Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally due to the lack of fibrinogen, a blood protein necessary for coagulation. This disorder is autosomal recessive, meaning that two unaffected parents can have a child with the disorder. The lack of fibrinogen expresses itself with excessive and, at times, uncontrollable bleeding.

<span class="mw-page-title-main">Hypoprothrombinemia</span> Medical condition

Hypoprothrombinemia is a rare blood disorder in which a deficiency in immunoreactive prothrombin, produced in the liver, results in an impaired blood clotting reaction, leading to an increased physiological risk for spontaneous bleeding. This condition can be observed in the gastrointestinal system, cranial vault, and superficial integumentary system, affecting both the male and female population. Prothrombin is a critical protein that is involved in the process of hemostasis, as well as illustrating procoagulant activities. This condition is characterized as an autosomal recessive inheritance congenital coagulation disorder affecting 1 per 2,000,000 of the population, worldwide, but is also attributed as acquired.

<span class="mw-page-title-main">Hermansky–Pudlak syndrome</span> Medical condition

Heřmanský–Pudlák syndrome is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and storage of an abnormal fat-protein compound. It is thought to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.

<span class="mw-page-title-main">Bernard–Soulier syndrome</span> Medical condition

Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor. 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. BSS is a giant platelet disorder, meaning that it is characterized by abnormally large platelets.

<span class="mw-page-title-main">Alpha-thalassemia</span> Thalassemia involving the genes HBA1and HBA2 hemoglobin genes

Alpha-thalassemia is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Normal hemoglobin consists of two alpha chains and two beta chains; in alpha-thalassemia, there is a quantitative decrease in the amount of alpha chains, resulting in fewer normal hemoglobin molecules. Furthermore, alpha-thalassemia leads to the production of unstable beta globin molecules which cause increased red blood cell destruction. The degree of impairment is based on which clinical phenotype is present.

<span class="mw-page-title-main">Griscelli syndrome</span> Medical condition

Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities.

<span class="mw-page-title-main">Gray platelet syndrome</span> Medical condition

Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis. The name derives from the initial observation of gray appearance of platelets with a paucity of granules on blood films from a patient with a lifelong bleeding disorder.

<span class="mw-page-title-main">HPS1</span> Protein-coding gene in humans

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

<span class="mw-page-title-main">HPS4</span> Protein-coding gene in the species Homo sapiens

Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.

<span class="mw-page-title-main">HPS3</span> Protein-coding gene in the species Homo sapiens

Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.

<span class="mw-page-title-main">HPS5</span> Protein-coding gene in the species Homo sapiens

Hermansky–Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.

<span class="mw-page-title-main">Quebec platelet disorder</span> Medical condition

Quebec platelet disorder (QPD) is a rare autosomal dominant bleeding disorder first described in a family from the province of Quebec, Canada. The disorder is characterized by large amounts of the fibrinolytic enzyme urokinase-type plasminogen activator (uPA) in platelets. This causes accelerated fibrinolysis which can result in bleeding.

Bone marrow failure occurs in individuals who produce an insufficient amount of red blood cells, white blood cells or platelets. Red blood cells transport oxygen to be distributed throughout the body's tissue. White blood cells fight off infections that enter the body. Bone marrow progenitor cells known as megakaryocytes produce platelets, which trigger clotting, and thus help stop the blood flow when a wound occurs.

<span class="mw-page-title-main">Giant platelet disorder</span> Medical condition

Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelets cannot stick adequately to injured blood vessel walls, resulting in abnormal bleeding when injured. Giant platelet disorder occurs for inherited diseases like Bernard–Soulier syndrome, gray platelet syndrome and May–Hegglin anomaly.

References

  1. 1 2 3 4 5 6 7 "Alpha Delta Granule Deficiency". rarediseases.info.nih.gov. Retrieved 2017-10-28.
  2. 1 2 Kirchmaier, Carl Maximilian; Pillitteri, Daniele (October 2010). "Diagnosis and Management of Inherited Platelet Disorders". Transfusion Medicine and Hemotherapy. 37 (5): 237–246. doi:10.1159/000320257. ISSN   1660-3796. PMC   2980508 . PMID   21113246.
  3. 1 2 3 "Platelet Storage Pool Deficiency" (PDF). National Hemophilia Foundation. Retrieved 2 September 2024.
  4. 1 2 "Platelet Function Disorders". health.ucdavis.edu. Retrieved 2024-09-02.
  5. Konkle, Barbara (10 December 2011). "Acquired disorders of platelet function". Hematology Am Soc Hematol Educ Program. 2011 (1): 391–396 via Ash Publications.
  6. 1 2 Blair, Price; Flaumenhaft, Robert (2009). "Platelet alpha-granules: basic biology and clinical correlates". Blood Reviews. 23 (4): 177–189. doi:10.1016/j.blre.2009.04.001. ISSN   1532-1681. PMC   2720568 . PMID   19450911.
  7. 1 2 3 4 5 Borhany, Munira; Pahore, Zaen; ul Qadr, Zeeshan; Rehan, Muhammad; Naz, Arshi; Khan, Asif; Ansari, Saqib; Farzana, Tasneem; Nadeem, Muhammad; Raza, Syed Amir; Shamsi, Tahir (2010). "Bleeding disorders in the tribe: result of consanguineous in breeding". Orphanet Journal of Rare Diseases. 5 (1). doi: 10.1186/1750-1172-5-23 . ISSN   1750-1172. PMID   20822539.
  8. 1 2 "Why Perform Platelet Aggregation?". Helena Biosciences. 2015
  9. 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.
  10. "Gray platelet syndrome". Orphanet. Retrieved 2017-10-29.
  11. "OMIM Entry - # 601709 - Quebec Platelet Disorder". www.omim.org. Retrieved 29 October 2017.
  12. 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
  13. Huizing, Marjan; Malicdan, May Christine V.; Gochuico, Bernadette R.; Gahl, William A. (1993). "Hermansky-Pudlak Syndrome". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID   20301464.update 2017
  14. "Chédiak Higashi syndrome". Orphanet. Retrieved 29 October 2017.
  15. "More Than a Bloody Nose: Platelet Storage Pool Deficiency". Children's Hospital of Philadelphia. Retrieved 2024-09-02.

Further reading