This review examines the key features of the presentation of IPDs in children and adults and presents a diagnostic algorithm for the evaluation of these patients. [ncbi.nlm.nih.gov]

Usually, diagnosis happens at a young age, particularly when a family history is present. Children may present with bruises, and nose/mouth/gum bleeds for example after a visit to the dentist. [haemophilia.org.uk]

It discusses the clinical options, examines the relevant research, and presents expert recommendations on everything from acute organ failure to prevention issues. [books.google.com]

If the platelet count and platelet size suggest that an inherited platelet disorder may be present, platelet function analysis (PFA-100) and platelet aggregation should be ordered. [clinlabnavigator.com]

• Splenomegaly

  […] glycoprotein IIb/IIIa ITGA2B, ITGB3 Menorrhagia, ecchymoses, epistaxis, gingival hemorrhage Gray-platelet syndrome (alpha storage pool disease) Also AD Storage pool disorder with decreased alpha granules NBEAL2 Mild mucosal bleeding, myelofibrosis, splenomegaly [arupconsult.com]

  Splenomegaly and hypersplenism, which may be associated with a variety of conditions - eg, cirrhosis, malaria, lymphoma. [patient.info]

  Splenomegaly is not observed in the typical patient with ITP. The spleen can engulf platelets and be several times normal size without becoming palpably enlarged. [emedicine.medscape.com]

• Pathologist

  She has published over 100 peer-reviewed publications in the field of haemostasis, is an international expert on platelet testing and aspirin resistance, and has served on review panels from the National Institutes of Health (NIH), College of American Pathologists [books.google.com]

  American Society of Clinical Pathologists. Retrieved April 21, 2016. External links [ edit ] [en.wikipedia.org]

  We determined the necessary coverage level based on recommendations forwarded by the Royal College of Pathologists of Australasia [ 65 ] whose guidance is in compliance with National Pathology Accreditation Advisory Council (NPAAC) standards for testing [intechopen.com]

  Chicago : American Society of Clinical Pathologists 1978. Powers L.W. Diagnostic Hematology Clinical and Technical Principles. St Louis : Mosby 1989. Rapaport S.I. Introduction to Hematology. 2nd ed. Philadelphia : JB Lippincott 1987. [doctorlib.info]

• Ecchymosis

  Bernard-Soulier syndrome often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be confirmed by platelet aggregation studies and flow cytometry. [ncbi.nlm.nih.gov]

  Bleeding of all types, including epistaxis, ecchymosis, hemarthrosis, subcutaneous hematoma, menorrhagia, and gastrointestinal and urinary tract hemorrhage, has been reported. [doctorlib.info]

• Dentist

  Children may present with bruises, and nose/mouth/gum bleeds for example after a visit to the dentist. There may also be incidence of gastrointestinal bleeding. In women, a symptom is heavy menstrual bleeding. [haemophilia.org.uk]

• Hemophilia A

  Kouides has received numerous awards, including the National Hemophilia Foundation Award of Excellence—Special Award, in recognition of research in women with bleeding disorders, and the Mary M. Gooley Hemophilia Center, Inc. [books.google.com]

  Hemophilia A Hemophilia A is a bleeding disorder caused by a deficiency in blood clotting Factor VIII. Hemophilia B Hemophilia B is a bleeding disorder caused by a deficiency in blood clotting Factor IX. [allaboutbleeding.com]

  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]

  “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]

  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]

• Easy Bruising

  Most such patients have a bleeding disorder characterized by nosebleeds, gum bleeding, easy bruising (black and blue marks), heavy menstrual periods in women, and excessive bleeding after surgery or trauma. [clinicaltrials.gov]

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

  As with Bernard-Soulier Syndrome, children experience easy bruising, nasal, mouth and gum bleeds and women are liable to heavy or prolonged bleeding (menorrhaegia) during childbirth. [haemophilia.org.uk]

  The most common symptoms of a platelet disorder are easy bruising, nosebleeds, bleeding of the mouth or gums, heavy menstrual bleeding (periods), postpartum (after child birth) bleeding, and bleeding following dental work, surgical or invasive procedures [ihtc.org]

  […] syndrome Scurvy (vitamin C deficiency) Clinical features Symptoms: bleeding associated with surgery, trauma, dental extractions, postpartum, circumcision or umbilical stumps, GI bleeding, intracranial hemorrhage, hemarthrosis or soft tissue hematomas, easy [pathologyoutlines.com]

• Hypertension

  Other adverse effects occasionally include a hypertensive response and hyponatremia. [emedicine.medscape.com]

  These patients also have persistent proteinuria, microscopic hematuria, and moderate hypertension. The mild bleeding tendency includes epistaxis, gastrointestinal bleeding, and female genital tract bleeding. [doctorlib.info]

• Purpura

  ( D47.3 ) purpura fulminans ( D65 ) thrombotic thrombocytopenic purpura ( M31.1 ) Waldenström hypergammaglobulinemic purpura ( D89.0 ) Purpura and other hemorrhagic conditions Approximate Synonyms Platelet disorder Platelet disorder, qualitative Platelet [icd10data.com]

  The differential diagnosis includes the other inherited giant platelet disorders, as well as von Willebrand disease and immune thrombocytopenia purpura. [ncbi.nlm.nih.gov]

  For more information, see the Thrombotic Thrombocytopenic Purpura. [emedicine.medscape.com]

  Problems later in life may arise from anything that can cause internal bleeding such as: stomach ulcers, surgery, trauma, or menstruation. [2] Abnormality of the abdomen, nosebleeds, heavy menstrual bleeding, purpura, too few platelets circulating in [en.wikipedia.org]

  (Henoch-Schönlein purpura) Paraproteinemia and amyloidosis Senile purpura Drug-induced vascular purpuras Vitamin C deficiency (scurvy) Purpuras of unknown origin Purpura simplex (easy bruisability) Psychogenic purpura Hereditary vascular disorders Hereditary [doctorlib.info]

• Epistaxis

  Bernard-Soulier syndrome often presents early with bleeding symptoms, such as epistaxis, ecchymosis, menometrorrhagia, and gingival or gastrointestinal bleeding. Diagnosis can be confirmed by platelet aggregation studies and flow cytometry. [ncbi.nlm.nih.gov]

  ADP receptor defect Aggregation defect P2YR12 n/a Bernard-Soulier syndrome Adhesion disorder with deficiency or dysfunction of platelet glycoprotein Ib/IX/V complex GP1BA, GP1BB, GP9 Epistaxis, ecchymoses, menorrhagia, gingival hemorrhage, gastrointestinal [arupconsult.com]

  […] medicines affecting platelet function Avoid activities or sports where there is a higher risk of injury Tell other health care providers that you or your child has a platelet disorder Girls or women may need hormonal therapy to control their heavy periods Epistaxis [chla.org]

  […] vitamin C deficiency) Clinical features Symptoms: bleeding associated with surgery, trauma, dental extractions, postpartum, circumcision or umbilical stumps, GI bleeding, intracranial hemorrhage, hemarthrosis or soft tissue hematomas, easy bruising, epistaxis [pathologyoutlines.com]

  Mild bleeding such as epistaxis may occur in early childhood, but severe postoperative hemorrhage has been observed. [doctorlib.info]

We indeed considered that many of these patients still had to complete the diagnostic workup, hence biasing the calculation of the prevalence of PSD towards an underestimation. [journals.plos.org]

[…] platelet dysfunction (usually mild) § Often associated with Granulocyte inclusions (Dohle-like bodies) § Phenotype very variable – m ay be associated with other congenital abnormalities including : § Glomerulon ephritis (urinalysis should be part of the workup [ihaematology.com]

The use of prophylactic treatments according to diagnosis is reported in Table 4. Table 3. Prophylactic treatments according to disease category and type of surgery. Table 4. Prophylactic treatments according to diagnosis. [haematologica.org]

Treatments vary depending on the type of platelet disorder. Some possible treatments include: DDAVP. This medication, also known as desmopressin or Stimate®, is a man-made hormone, given by injection or nasal spray. [childrensmn.org]

Post-operative bleeding Prior to treatment, the risks of post-operative bleeding should be assessed and a decision made about the location for treatment, i.e. hospital. [bsdht.org.uk]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Bruising, one of the most common symptoms, doesn’t require any treatment at all unless the bruises are very painful or impair function. In those cases, the treatment is usually ice or painkillers. [hemaware.org]

Prognosis The outcome depends on the specific disorder and the severity of its symptoms. Platelet function disorders range from life-threatening conditions to easily treated or little-noticed problems. [medical-dictionary.thefreedictionary.com]

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

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

View Article PubMed Google Scholar Tello-Montoliu A, Jover E, Marin F, Bernal A, Lozano ML, Sanchez-Vega B, Pastor FJ, Hurtado JA, Valdes M, Vicente V, Rivera J: Influence of CYP2C19 polymorphisms in platelet reactivity and prognosis in an unselected [ojrd.biomedcentral.com]

Except for patients in whom chronic renal disease develops, the prognosis is usually good. Occasionally, death from renal failure has occurred. [doctorlib.info]

[…] 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]

The minimum criteria for the diagnosis of TTP are thrombocytopenia and microangiopathic hemolytic anemia without an apparent etiology. [emedicine.medscape.com]

Patients with acquired platelet disorders of any etiology were excluded. All types of surgical procedures, including invasive diagnostic procedures (e.g. angiography, endoscopic and tissue biopsies) and dental extractions, were included. [haematologica.org]

This suggests a possible different etiologic and pathogenic mechanisms in the two groups of patients. The early age of onset in patients without associated conditions indicates congenital defects that may be amenable to genetic mapping. [journals.plos.org]

Von Willebrand disease (VWD) VWD is the most common hereditary bleeding disorder with, according to epidemiological studies, an estimated prevalence worldwide as high as 1 to 2% in the general population [ 5 - 7 ]. [wrbd.org]

[…] reticulum-Golgi gene ERGIC 53 on #18 that transports these factors), combined factors II, VII, IX and X deficiency (due to mutation in gamma-glutamyl carboxylase gene, whose protein carboxylates glutamate residues in vitamin K-dependent coagulation factors) Epidemiology [pathologyoutlines.com]

Epidemiology of Platelet Disorders Inherited hemostatic disorders are relatively rare. The prevalence of von Willebrand disease has been estimated at 1 case per 1000-5000 population. [emedicine.medscape.com]

In addition, recent advances in our understanding of the pathophysiology of platelet disorders are addressed, with attention given to some of the novel genetic associations. Finally, treatment options and future therapies are briefly discussed. [ncbi.nlm.nih.gov]

The pathophysiologic relevance of this observation is uncertain because the concentrations of fibrin degradation products required are unlikely to be reached in vivo. [doctorlib.info]

Thus, the pathophysiology of this disease is similar to that of the hemolytic disease of newborns. Unlike hemolytic disease, however, thrombocytopenia occurs during the first pregnancy in 50% of cases. [emedicine.medscape.com]

PubMed Google Scholar Othman M, Kaur H, Emsley J: Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect. Semin Thromb Hemost. 2013, 39: 663-673. 10.1055/s-0033-1353442. [ojrd.biomedcentral.com]

In conclusion, patients suffering from inherited platelet disorders should be given preventive treatment routinely in order to prevent disease or further progression which in turn prevents the risk of bleeding and the need for transfusions and medications [bsdht.org.uk]

It discusses the clinical options, examines the relevant research, and presents expert recommendations on everything from acute organ failure to prevention issues. [books.google.com]

Prevention Inherited platelet function disorders cannot be prevented except by genetic counseling ; however, some acquired function disorders may be guarded against by avoiding substances that trigger the disorder. Resources Periodicals Liesner, R. [medical-dictionary.thefreedictionary.com]

However, no conclusions on the rate of bleeding complications and its prevention can be drawn from these studies. [haematologica.org]

Treating Underlying Conditions If you are not actively bleeding, your doctor will want to try to prevent future bleeds. This means they have to fix whatever is causing your clotting problem. [healthline.com]