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Disease Profile

Platelet storage pool deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Platelet storage pool diseases; Storage pool platelet disease

Categories

Blood Diseases

Summary

Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth.[1] Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.[2][1][3]

Symptoms

The signs and symptoms of platelet storage pool deficiency vary but may include:[1][3][4]

  • Frequent nosebleeds
  • Abnormally heavy or prolonged menstruation
  • Easy bruising
  • Recurrent anemia
  • Abnormal bleeding after surgery, dental work or childbirth

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Acute leukemia
0002488
Autosomal dominant inheritance
0000006
Decreased mean platelet volume
Small platelet size
Small platelets
Small platelets size

[ more ]

0005537
Myelodysplasia
0002863
Prolonged bleeding time
0003010

Cause

Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Some platelet storage pool deficiencies are due to reduced or absent granules or granule contents. Others occur if the platelets are unable to empty the contents of the platelet granules into the bloodstream.[3] 

Platelet storage pool deficiencies can be genetic or acquired (non-genetic). The four major genetic forms include dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency. Platelet storage pool deficiency is also a feature of several inherited conditions such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome.[3][4]

Causes of acquired platelet storage pool deficiencies include:[3]

Diagnosis

A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include:[5][4]

Treatment

Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening.[1][3]

People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS).[1][3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

      In-Depth Information

      • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Platelet storage pool deficiency. Click on the link to view a sample search on this topic.

        References

        1. Jewell, M., MaGann, EF, Barr, A., and Baker, R. Management of platelet storage pool deficiency during pregnancy. Australian and New Zealand Journal of Obstetrics and Gynecology. 2003; 43(2):171-172.
        2. Storage Pool Platelet Disease. Online Mendelian Inheritance of Man. March 3, 2009; https://omim.org/entry/185050. Accessed 7/30/2014.
        3. Riley RS. Platelet Storage Pool Diseases. Virginia Commonwealth University. https://www.pathology.vcu.edu/clinical/coag/SPD.pdf. Accessed 7/30/2014.
        4. Sandrock K, Zieger B.. Current Strategies in Diagnosis of Inherited Storage Pool Defects. Transfus Med Hemother. 2010; 37(5):248-258.
        5. Rahman S, Myers J, Gilham J, Fitzmaurice R, Johnston T. Post partum haemorrhage secondary to uterine atony, complicated by platelet storage pool disease and partial placenta diffusa: a case report. Cases Journal. December 13, 2008; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2614952/pdf/1757-1626-1-393.pdf. Accessed 10/15/2013.

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