Dense granules were normally present. Platelet aggregation with collagen was severely decreased, as was the response to convulxin (Cvx), a GPVI agonist. [ncbi.nlm.nih.gov]

• Collapse

  Although she was asymptomatic immediately after the accident, 2 days later she collapsed at home and expired despite multiple transfusions. [bloodjournal.hematologylibrary.org]

• Soft Tissue Mass

  A 3.4-cm right frontal osseous cavity and an overlying right forehead subcutaneous soft-tissue mass were seen, measuring 5.2 cm in diameter and 1.6 cm thick. [ncbi.nlm.nih.gov]

• Projectile Vomiting

  After 6 days, she developed sudden projectile vomiting, was admitted to intensive care with intracranial hemorrhage, and died later that day. [bloodjournal.hematologylibrary.org]

• Knee Pain

  He had easy bruising in infancy and suffered recurrent knee pain. Platelet counts within the first 10 years ranged between 150 and 25 K/μL. [bloodjournal.hematologylibrary.org]

• Periorbital Ecchymosis

  At age 3.5, she experienced prolonged epistaxis, with a decrease in hemoglobin to 6.8 g/dL; at age 4, she presented with a massive subgaleal hemorrhage and left periorbital ecchymosis after minor head trauma. 8 Platelet count was 94 K/μL. [bloodjournal.hematologylibrary.org]

• Erythroblast

  Comparative gene expression profiling of in vitro differentiated megakaryocytes and erythroblasts identifies novel activatory and inhibitory platelet membrane proteins. Blood. 2007; 109 :3260–9. [ PMC free article ] [ PubMed ] [ Google Scholar ] 27. [ncbi.nlm.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

From the clinical point of view, the bleeding tendency in this syndrome generally varies from mild to moderate, and no specific treatment is usually needed. [ncbi.nlm.nih.gov]

Treatment There is no curative treatment for gray platelet syndrome although it can be managed. Patients must avoid medications that impair functioning of platelets such as aspirin. [medigest.uk]

Diagnosis - Gray platelet syndrome Home medical testing related to Gray platelet syndrome: * Fatigue: Related Home Tests: o Home Anemia Tests o Home Thyroid Function Tests o Home Adrenal Function Tests o Home Calcium Deficiency Tests o Home HIV Tests Prognosis [checkorphan.org]

Newer therapies such as recombinant activated factor VIIa (rFVIIa) may have a role in some platelet disorders. [ 13 ] Prognosis [ 2 ] The overall prognosis is good. No fatal bleeds have been reported. [patient.info]

The prognosis is generally good The factors that create a very favorable outcome are when GPS is detected early and careful medical follow-up with appropriate and timely treatment is given If the platelet count is less than 30,000/microliter, then a severe [dovemed.com]

Plasma exchange therapy, introduced 30 years ago, has dramatically improved the prognosis for patients with TTP. [emedicine.medscape.com]

(Etiology) Anomalous genetic mutations in gene ‘NBEAL2’ is said to cause Grey Platelet Syndrome. [dovemed.com]

[…] thrombasthenia 1 in 1,000,000 Autosomal recessive Bernard-Soulier syndrome 1 in 1,000,000 Autosomal recessive Gray platelet syndrome Rare Autosomal dominant, recessive or X-linked recessive Wiskott-Aldrich syndrome 1 in 1,000,000 X-linked recessive Etiology [pathologyoutlines.com]

Although the experiment did not address the function of α-granules in thrombocytes, these results support the essential role of the Nbeal2 protein in thrombopoiesis and the etiology of GPS. [ncbi.nlm.nih.gov]

The etiology of the progressive nature of thrombocytopenia in GPS remains to be determined (worsening myelofibrosis and splenic enlargement with more platelet consumption). Our data show that myelofibrosis affects the majority (88%) of GPS patients. [bloodjournal.hematologylibrary.org]

EDTA-dependent pseudothrombocytopenia: a clinical and epidemiological study of 112 cases, with 10-year follow-up. Am J Hematol. 1995; 50: 103–109. CrossRef PubMed Google Scholar 11. Hoyt RH, Durie BG. [link.springer.com]

Knolle, Kristian Unger, Lars Zender, Bernhard Nieswandt, Meinrad Gawaz, Achim Weber & Mathias Heikenwalder Nature Medicine (2019) Inherited Macrothrombocytopenia: Correlating Morphology, Epidemiology, Molecular Pathology and Clinical Features Kanjaksha [dx.doi.org]

The platelets are large and have a grey appearance on light microscopy. [ 1 ] It is one of the macrothrombocytopenias, which are inherited thrombocytopenias with increased platelet size. [ 2 ] Epidemiology and inheritance Grey platelet syndrome (GPS) [patient.info]

The causative gene and underlying pathophysiology are largely unknown. [ncbi.nlm.nih.gov]

Vermylen is Professor of Internal Medicine, University of Leuven, Belgium Valentin Fuster is Professor of Medicine, Mount Sinai Medical Center and School of Medicine, New York معلومات المراجع العنوان Platelets in Thrombotic and Non-Thrombotic Disorders: Pathophysiology [books.google.com]

Organization of medical conditions provides a brief overview of the basic disease process, epidemiology, pathophysiology, signs and symptoms, laboratory findings, and currently accepted medical therapy of each disorder. [books.google.de]

Precautions can be taken in order to prevent an individual with GPS from bleeding to death. Dental care : Individuals with GPS should adhere to a strict schedule of preventive dental care in order to prevent bleeding of the gums. [wellness.com]

Abstract The Gray platelet syndrome (GPS) is a rare inherited disorder linked to undefined molecular abnormalities that prevent the formation and maturation of alpha-granules. [ncbi.nlm.nih.gov]

Prevention - Gray platelet syndrome Not supplied. [checkorphan.org]

The Heart Outcomes Prevention Evaluation Study investigators. N Engl J Med 2000;342: 145-153. ‏ الصفحة 468 - Antiplatelet Trialists' Collaboration. [books.google.com]