Epistaxis was the most common presenting symptom. The youngest patients in the group presented with subdural hematomas before the age of 2. [bloodjournal.org]

The present study has pointed out a significant difference between the two syndromes. [ncbi.nlm.nih.gov]

The present study is the first to document a severe decrease in both platelet α granules and dense bodies in four members in three generations of the same family. [iths.pure.elsevier.com]

Individuals with ADP deficient storage pool disease present a prolonged bleeding time due to impaired aggregation response to fibrillar collagen. [en.wikipedia.org]

• Easy Bruising

  An ELISA assay was used to determine serotonin (5HT) concentration in PLs and medical record review was employed to collect patients' clinical symptoms.The most common bleeding symptom was easy bruising (71%) but frequent nose bleeds, heavy menstrual [ncbi.nlm.nih.gov]

  The most common bleeding symptom was easy bruising (71%) but frequent nose bleeds, heavy menstrual bleeding, and a family history of bleeding were also commonly reported. Definitely fits me. Interesting. [forums.phoenixrising.me]

  Classically, the clinical features of storage pool disorders include nosebleeds (epistaxis), abnormally heavy or prolonged menstruation (menorrhagia), easy bruising, recurrent anemia, and obstetric or surgical bleeding. [diseaseinfosearch.org]

  This disorder causes easy bruising or bleeding. [medlineplus.gov]

  Typically, easy bruising, petechiae, epistaxis, and mucocutaneous bleeding are observed in affected patients. The platelet defects are classified into disorders affecting either platelet surface receptors or intracellular organelles of platelets. [doi.org]

• Hemophilia A

  Hemophilia : there are several different types of hemophilia. [glhf.org]

  Hemophilia: What Should You Know? Centers for Disease Control and Prevention. Available online at http://www.cdc.gov/ncbddd/hemophilia/index.html. Accessed May 2017. Drelich, D.A. (2017 May 2). Hemophilia A. Medscape Reference article. [labtestsonline.org]

  Platelet function disorders 2018-11-16T20:20:43+00:00 Hemophilia Program Eastern Health, Janeway Site Room 2J755 300 Prince Philip Drive St. John’s, Newfoundland A1B 3V6 Clinic directors Dr. Lynette Bowes Dr. Paul Moorehead Dr. [hemophilia.ca]

  Factor IX - (factor nine) The clotting factor protein that is decreased in people with hemophilia B. Factor VIII - (factor eight) The clotting factor protein that is decreased in people with hemophilia A. [glanzmanns.com]

  “When you’re seeing people who aren’t trained to look for them, you may go for quite a long time without anyone understanding the severity of your problem,” says Jennifer Maahs, MSN, PNP, a hemophilia nurse practitioner at the Indiana Hemophilia & Thrombosis [hemaware.org]

• Blue Eyes

  For example, for the gene that determines eye colour, you may inherit a brown-eye gene from your mother and a blue-eye gene from your father. In this instance, you'll end up with brown eyes because brown is the dominant gene. [nhs.uk]

• Suggestibility

  Seventeen patients (35%) had both decreased ATP release and decreased numbers of dense granules, suggesting the presence of a storage pool defect. [ncbi.nlm.nih.gov]

  As a result we suggested that the Paris-Trousseau syndrome and the Jacobsen syndrome were probably identical disorders. [experts.umn.edu]

• Grieving

  Ammann S, Schulz A, Krageloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmuller J, Thiele H, Nurnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S. [ncbi.nlm.nih.gov]

• Seizure

  Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016; 127 :997–1006. [ PubMed : 26744459 ] Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. [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]

Most people with storage pool deficiencies only need treatment during surgical procedures (including dental work) and after injury or trauma. [wfh.org]

Management and treatment There is no specific treatment but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may include administration of desmopressin. [orpha.net]

Treatments may be given by injection, nasal spray, or pills. The treatment for VWD depends on the type and severity of the bleeding disorder. For minor bleeds, treatment might not be needed. [glhf.org]

Prognosis Without treatment, prognosis is very poor. Primary causes of mortality in the first 10 years of life are development of the accelerated phase and overwhelming infection. [orpha.net]

Prognosis The prognosis is very variable and will depend on the underlying condition. [patient.info]

[…] the condition, then genetic counseling will help assess risks, before planning for a child Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders What is the Prognosis [dovemed.com]

Abstract Mechanisms have been postulated to explain postural orthostatic tachycardia syndrome (POTS), however, the etiology of this often debilitating disorder remains unknown. [ncbi.nlm.nih.gov]

While we describe a significant relationship with POTS and δ-SPD, this finding does not constitute an etiology for POTS. [forums.phoenixrising.me]

Both hereditary and acquired etiologies have been reported. Chédiak-Higashi, Grey Platelet, Hermansky-Pudlak, and Wiskott-Aldrich syndromes are examples of hereditary SPDs. [utoledo.edu]

Etiology Loss-of-function mutations in the LYST lysosomal trafficking regulator gene (1q42.1-q42.2) are associated with the severe, childhood-onset form of CHS. Missense mutations appear to underlie the atypical form. [orpha.net]

Summary Epidemiology Exact prevalence is difficult to determine; fewer than 500 cases have been reported. Many patients likely remain undiagnosed because of variability in clinical signs. No gender or ethnic predilection has been found. [orpha.net]

Menorrhagia associated with laboratory abnormalities of hemostasis: epidemiological, diagnostic and therapeutic aspects. J Thromb Haemost 2007; 5 (Suppl 1): 175-82. 6.Rodeghiero F, Castaman G, Dini E. [jpma.org.pk]

Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987;69:454-460. [ Links ] 46. Werner E, Broxson E, Tucker E, et al. Prevalence of von Willebrand's disease in children: a multiethnic study. [scielo.org.mx]

[…] affected patients categorized with a partial dysautonomic condition appearing to be related to mild peripheral autonomic neuropathy. [19,20] The female/male ratio of 17:1 in our study is significantly greater than usually described at 5:1; a recent epidemiology [journals.lww.com]

[…] of platelet storage pool deficiency can be acquired or inherited(genetically passed on from the individuals parents).Some of the causes of platelet storage pool deficiency when acquired are: Hairy-cell leukemia Cardiovascular bypass In terms of the pathophysiology [en.wikipedia.org]

Here, we describe the pathophysiology, clinical manifestations, and diagnosis of the major human SPDs. © 2010 S. [doi.org]

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]

En: Platelets: Pathophysiology and antiplatelet drug therapy. New York: Alan R. Liss, 1982:45. [ Links ] 77. Triplett DA. Appendix C: Miscellaneous lists and forms. En: Triplett DA, Ed. [scielo.org.mx]

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

The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. [icdlist.com]

All of the patients were primarily managed by preventive measures and antifibrinolytic agents. Platelet transfusions have been reserved for life threatening bleeds or surgical procedures. [bloodjournal.org]

The goal of treatment is to prevent bleeds and the damage associated with bleeding. Quality medical care from health care providers with expertise in this bleeding disorder can help prevent many serious problems. [glhf.org]