Symptoma

Inherited Platelet Disorder

Thrombocytopathy Hereditary

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]

An approach to diagnosing a platelet disorder is presented, which supports the high significance of flow cytometry in platelet function analysis. [karger.com]

Two additional patients presented with syndromic forms, suggestive of CHS, and a definitive diagnosis was made based on molecular findings [ 42 ]. [ojrd.biomedcentral.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]

    College of American Pathologists, January 2003 Survey of instruments [On-line information]. Available online at . Corcoran, G. and Kottke-Marchant, K. (2002 June). Chasing after the causes of platelet disorders. [labtestsonline.it]

    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]

  • 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]

    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]

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

    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]

  • Aspiration

    They also suggest that an alternative technique be used along with an aspirating syringe and a local anaesthetic with a vasoconstrictor to reduce bleeding tendency. [bsdht.org.uk]

    […] abnormalities: mixing studies, factor levels, Bethesda assay (to detect coagulation factor inhibitors); can confirm hereditary deficiency by determining factor levels in relatives For suspected platelet disorders: platelet aggregation studies, bone marrow aspirate [pathologyoutlines.com]

    Aminophylline and some foods e.g. garlic) Investigation FBC § /- citrated sample Blood film § Platelet size Coagulation screen § VWD 2N Platelet adhesion testing PFA-100 § Aspirates whole blood under constant vacuum through a capillary and a microscopic [ihaematology.com]

    One individual who had been previously misdiagnosed as having ITP and treated with steroids and splenectomized, exhibited a bone marrow aspirate and biopsy showing decreased cellularity and megakaryocyte counts, with 24% of the metaphases revealing monosomy [ojrd.biomedcentral.com]

    A blood sample of 0.8 mL of citrated blood is placed in a cup and is aspirated through the aperture. The shear stress and the agonists in the membrane activate platelets, leading to platelet aggregation. [emedicine.medscape.com]

  • Premature Loss of Teeth

    loss of teeth Chediak-Higashi syndrome (CHS) platelet dense granule deficiency severe immunologic deficiency increased vulnerability to severe gingivitis and periodontitis Premature loss of teeth Gray platelet syndrome defective retention of αgranule protein [bsdht.org.uk]

  • Tooth Loss

    loss When patients suffering from an inherited platelet disorder require treatment anti-haemorrhagic agents may be used. [bsdht.org.uk]

  • Periodontitis

    The authors then propose the following management options for dental treatments: Oral health Previous studies have suggested that caries and periodontal disease incidence is higher in patients with bleeding disorders. [bsdht.org.uk]

  • Hydrops Fetalis

    Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.com]

  • Fear

    This has been felt to be related to the fear of bleeding when performing oral hygiene measures such as flossing and during professional dental treatments. [bsdht.org.uk]

    Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, Paolo Gresele Haematologica July 2017 102: 1192-1203; doi: 10.3324/haematol.2016.160754 Abstract Excessive bleeding at surgery is a feared complication in patients with inherited platelet [haematologica.org]

  • Nystagmus

    […] were the 7 patients presenting specific features characteristic of IPDs: 2 patients with hypopigmentation and giant granules in polymorphonuclear leukocytes characteristic of Chediak-Higashi syndrome (CHS), 1 patient with oculocutaneous albinism and nystagmus [ojrd.biomedcentral.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]

  • Hyponatremia

    Mild adverse effects of desmopressin may include headache, nausea and hypotension, although sometimes more serious side effects, such as hyponatremia and renal dysfunction, may occur. [haematologica.org]

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

  • Platelet Aggregation Abnormal

    Platelet aggregation abnormalities are usually seen but vary, depending on the disorder. 2, 8, 41, 42 Storage pool diseases Platelet disorders of the storage pool type can be related to defects of the dense granules or defects of the α-granules. [doctorlib.info]

  • Platelet Count Abnormal

    They include patients who have decreased platelet counts, abnormal platelet function or a combination of both, in general reflecting underlying abnormalities that culminate in defective platelet production and function. [link.springer.com]

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

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]

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]

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]

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]

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]

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

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]

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

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]

If symptoms are severe, antifibrinolytic drugs that prevent clots from breaking down, DDAVP and other medications can help. DDAVP is a synthetic version of a hormone that stimulates the release of von Willebrand factor and factor VIII. [hemaware.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]