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]

• 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]

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]

Finally, treatment options and future therapies are briefly discussed. [ncbi.nlm.nih.gov]

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]