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

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

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

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]

• 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]

  Patients having SPD often present with a history of easy bruising, frequent epistaxis, and prolonged bleeding times with or without abnormal aggregation tests. Both hereditary and acquired etiologies have been reported. [utoledo.edu]

  People with storage pool deficiencies may experience: Easy bruising Nose bleeds Bleeding from gums Heavy or prolonged menstrual bleeding (menorrhagia) or bleeding after childbirth Abnormal bleeding after surgery, circumcision, or dental work Diagnosis [wfh.org]

• Hirsutism

  Physical examination findings and laboratory studies were scrutinized for any tangible manifestations or biochemical changes associated with anovulation and/or polycystic ovary syndrome including, but not limited to, hirsutism, acne and/or obesity as [ehoonline.biomedcentral.com]

• 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]

• Nystagmus

  Hermansky Pudlak Syndrome Autosomal recessive Disorder Oculocutaneous albinism Neurologic Dysfunction Giant cytoplasmic leukocyte inclusions Severe immunodeficiency Autosomal recessive disorder Common in NW Puerto Rico Oculocutaneous albinism Rotary nystagmus [clinicaladvisor.com]

  Reduced iris pigmentation may be associated with nystagmus, and visual acuity may be impaired. [orpha.net]

  Patients have nystagmus and easy bruisability. Pulmonary fibrosis is a severe complication in many patients. Granulomatous colitis occurs in 10%-20% of patients. Eight different genes are known to cause HPS when mutated (HPS1 – HPS8). [genedx.com]

• Cytopenia

  There are no associated cytopenias with normal platelet morphology and normal screening coagulation tests (PT, PTT, and fibrinogen activity). The closure time with a PFA-100 will be variably prolonged. [clinicaladvisor.com]

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]

Therefore the following examples include: Platelet alpha-granules Gray platelet syndrome Quebec platelet disorder Dense granules δ-Storage pool deficiency Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Platelet storage pool deficiency has no treatment [en.wikipedia.org]

Patients with platelet storage pool deficiencies may need to have treatment during dental or surgical procedures or after injuries or accidents. Platelets and other agents may be incorporated into treatment. [rarebleedingdisorders.com]

Prognosis Prognosis is generally good early in life when thrombocytopenia is mild. GPS patients with platelet counts less than 30,000/microliter are at risk for life-threatening bleeding. [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 GPS is caused by mutations in the NBEAL2 gene. Absence or marked reduction of alpha-granules in platelets underlie the disorder. [orpha.net]

Summary Epidemiology Exact prevalence of the disorder is not known. About 60 cases from various populations around the world have been described in the literature to date. It affects males and females equally. [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]

[…] 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]

PubMed Google Scholar Garratty G, Glynn SA, McEntire R, Retrovirus Epidemiology Donor Study: ABO and Rh(D) phenotypic frequencies of different racial/ethnic groups in the United States. [ehoonline.biomedcentral.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]

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]

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

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

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]

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