Presentation [ 6 ] Presentation can be any time from birth to 25 years but most cases present in the first 2 years of life. [patient.info]

It is the presenting sign in 50 percent of patients. 12 Some patients present with predominantly petechial lesions, some present with mainly purpuric lesions, and others present with a mixture of lesion types. [aafp.org]

SIGNS AND SYMPTOMS In a patient with T1DM, Addison’s disease may present as intermittent, severe hypoglycemia and intermittent, severe fatigue. Decreased insulin requirements, hypotension, weight loss, hyperpigmentation, and vitiligo may be present. [hopkinsguides.com]

E/II:2 presented at the age of 47 with AML with fatal outcome. E/II:3 presented at the age of 54 with extensive buccal neoplasia and worsening thrombocytopenia and succumbed. [link.springer.com]

Acronym THC5 Synonyms Thrombocytopenia, autosomal dominant, 5 Thrombocytopenia 5 with increased susceptibility to malignancy Any medical or genetic information present in this entry is provided for research, educational and informational purposes only [uniprot.org]

Clinical and laboratory findings did not identify any peculiar defects that can be used to suspect this disorder by routine diagnostic workup. However, at variance with most inherited thrombocytopenias, platelet size was not enlarged. [haematologica.org]

[…] that may be helpful include the following: Complete blood count (CBC) Assessment of platelet size, volume, and morphology Peripheral blood smear Immunocytochemistry of leukocytes (demonstrating NMMHCIIA complexes, for confirmation) Bleeding time See Workup [emedicine.medscape.com]

Efficiently look up concise descriptions of each condition, its associated symptoms, laboratory findings, diagnosis, differential diagnosis, and treatment. [books.google.com]

A rapid response to these therapies supports the diagnosis of ITP; failure to respond to treatment should lead to further investigation of alternate causes of a low platelet count. [pdsa.org]

If a patient is refractory to first-line treatments, the balance of risk between bleeding and potential toxic effects of treatment must be considered. [clinicaladvisor.com]

Treatment involves control of bleeding with replacement therapy (virally inactivated, intermediate-purity factor VIII concentrate) or desmopressin. [merckmanuals.com]

Other treatments A number of treatments have been proposed for patients in whom splenectomy and steroid therapy have failed. [emedicine.medscape.com]

Prognosis The prognosis has improved enormously over the years due to improved control of infection, transfusion services and stem cell transplantation. [patient.info]

Prognosis Excellent. Patients are neurologically and mentally normal, and the condition does not appear to affect their otherwise normal life, particularly when on medication. [epilepsy.com]

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

Prognosis and outcome Gestational thrombocytopenia—resolves spontaneously within a maximum of 1 to 2 months in all cases. There is a risk of recurrence in future pregnancies. [clinicaladvisor.com]

Quantitative platelet disorders have varied etiology. [labcorp.com]

PLATELET DYSFUNCTION Congenital Etiologies. [aafp.org]

In patients with YPS and constipation, careful assessment and physical examination should be done to exclude anal stenosis and other etiologies. [consultant360.com]

Furthermore, treatment should be focused on the etiology of thrombocytopenia (e.g. discontinuation of the drug that caused the thrombocytopenia, treatment of the underlying infection, chemotherapy, and others). [centogene.com]

The presence of antithyroid antibodies (e.g. anti-thyroglobulin antibodies, anti-microsomal antibodies, thyroid stimulating immunoglobulins) can be useful for confirming autoimmune etiology (see thyroid function tests module). [hopkinsguides.com]

[Polyglandular autoimmune syndrome type II: epidemiology and forms of manifestation]. Dtsch Med Wochenschr. 1999;124(49):1476-81. [PMID:10629665] Comment: Reviews epidemiology of PAS II. Eisenbarth G, Wilson P, Ward F, et al. [hopkinsguides.com]

Epidemiology of constipation in children and adults: a systematic review. Best Pract Res Clin Gastroenterol. 2011;25(1):3-18. Tabbers MM, DiLorenzo C, Berger MY, et al. [consultant360.com]

Epidemiology The incidence of the classic syndrome is estimated to be between one and ten in one million individuals, although it is likely to be higher. [ 7 ] Being X-linked and potentially lethal, it would be expected almost invariably to affect males [patient.info]

[…] genotype-phenotype correlations would be found, this has not been the case overall. [17] The MYH9 R702 mutation is reportedly associated with the smaller neutrophil inclusions seen in Sebastian syndrome, Fechtner syndrome, and Epstein syndrome. [18] Epidemiology [emedicine.medscape.com]

Despite the lack of epidemiologic data, clinical practice suggests that the former are more frequent than the latter. [bloodjournal.org]

Platelet kinetic studies have been performed to determine the pathophysiologic mechanisms in various thrombocytopenic states, particularly in complicated clinical situations. [accessmedicine.mhmedical.com]

Similarly, the pathophysiology for thrombocytopenia is largely unknown, but has been purported to be due to abnormal signal transduction to stimulator like thrombopoietin. 3 Thrombocytopenia begins in the neonatal period, 4 50% of affected infants present [dovepress.com]

[PMID:19411300] Comment: Provides review of the pathophysiology and role of genetic testing in PAS. Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med. 2004;350(20):2068-79. [PMID:15141045] Dittmar M, Kahaly GJ. [hopkinsguides.com]

Wiskott-Aldrich syndrome (WAS) was first described by Wiskott in Germany in 1937 [ 3 ] and later by Aldrich in the USA in 1954. [ 4 ] However, descriptions of the condition go back to the 19th century. [ 5 ] Pathophysiology The underlying mutation is [patient.info]

Pathophysiology Patients with MHA have a mutation of the MYH9 gene present in chromosomal region 22q12-13. [8, 4] The mutation results in disordered production of nonmuscle myosin heavy-chain type IIA, which leads to invariable macrothrombocytopenia secondary [emedicine.medscape.com]

For many patients, intra-nasal desmopressin may be as effective as IV treatment and is often useful to prevent bleeding during minor surgical procedures. [merckmanuals.com]

Thrombocytopenia prevents normal blood clotting, resulting in easy bruising and frequent nosebleeds. [ghr.nlm.nih.gov]

Immune therapies are in development, and may be useful for prevention and to moderate progression of disease. References Charmandari E, Nicolaides NC, Chrousos GP. Adrenal insufficiency. Lancet. 2014;383(9935):2152-67. [hopkinsguides.com]

Under normal circumstances, the resistance of the endothelial cell lining to interactions with platelets and coagulation factors prevents thrombosis. [emedicine.medscape.com]