Hemophagocytic lymphohistiocytosis (HLH) is a frequently fatal and likely underdiagnosed disease involving a final common pathway of hypercytokinemia, which can result in end-organ damage and death.
Although an early diagnosis is crucial to decrease mortality, the definitive diagnosis is often challenging because of the lack of specificity of currently accepted diagnostic criteria and the absence of confirmatory gold standards. Continue reading →
The diagnosis of Langerhans Cell Histiocytosis (LCH) is based on histological and immunophenotypic examination of lesional tissue. The main feature is the morphologic identification of the characteristic LCH cells. Additionally, positive staining of the lesional cells with CD1a and/or Langerin (CD207) is required for definitive diagnosis. Continue reading →
Diabetes insipidus is a disease in which large volumes of dilute urine (polyuria) are excreted due to vasopressin (AVP) deficiency [central diabetes insipidus (CDI)], AVP resistance [nephrogenic diabetes insipidus (NDI)], or excessive water intake (primary polydipsia). Polyuria is characterized by a urine volume in excess of 2 l/m2/24 h or approximately 150 ml/kg/24 h at birth, 100–110 ml/kg/24 h until the age of 2 years and 40–50 ml/kg/24 h in the older child and adult. Continue reading →
The Catastrophic Antiphospholipid Syndrome (CAPS) is a rare life-threatening form of Antiphospholipid Syndrome (APS) in which widespread intravascular thrombosis results in multiorgan ischemia and failure. CAPS is the initial presentation of APS in nearly half of patients, while the remaining half has a history of APS. Continue reading →
Screening is recommended for type 2 diabetes because reliable tests are available, and lifestyle changes and medications reduce progression and adverse sequelae of the disease, even in persons who are initially asymptomatic. Continue reading →
In overt hyperthyroidism, serum levels of free T4 and triiodothyronine (T3) or levels of T3 alone are elevated, and serum thyrotropin (TSH) levels are suppressed. In subclinical hyperthyroidism, levels of free T4 and T3 are normal, thyrotropin levels are suppressed, and thyroid hormone levels are usually in the middle to upper range of normal. Continue reading →
POEMS syndrome is a rare paraneoplastic syndrome due to an underlying plasma cell disorder (PCD). The acronym, which was coined by Bardwick in 1980, refers to several, but not all, of the features of the syndrome: polyradiculoneuropathy, organomegaly, endocrinopathy, monoclonal PCD, and skin changes. Continue reading →
A diagnosis of primary Sjögren’s syndrome is often made on the basis of a classic triad of symptoms: dryness of the mouth and eyes, fatigue, and pain. Systemic complications, which are present in 30 to 40% of patients, may provide the first clues to the disease.