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 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]

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

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]

  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]

  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]

• 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]

  Efforts to differentiate this disorder from other hypogranular platelets syndromes in the present investigation suggested that the α granules and dense bodies become connected to channels of the open canalicular system (OCS) and lose their contents to [iths.pure.elsevier.com]

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

• 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]

• Small Platelets

  Showing of 5 | 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 [rarediseases.info.nih.gov]

• Absent A-Waves

  Adrenaline: Absent second wave aggregation [i.e. first wave only] with adrenaline. However this also occurs in 10-15% of healthy individuals. [practical-haemostasis.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]

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 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]

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]

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

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]

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]

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]

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

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]