Guidelines for Diagnosis of the Lynch Syndrome

The Lynch syndrome is the most common inherited syndrome associated with colorectal cancer, accounting for 3% of new diagnoses; it is also associated with extracolonic cancers, the most common of which is endometrial cancer.
The Lynch syndrome phenotype includes a propensity for cancers of the proximal colon, poor tumor differentiation with mucinous or signet-ring cell histologic features or a medullary growth pattern, abundant infiltrating lymphocytes in the tumor, and synchronous and metachronous colorectal cancers.

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Diagnostic Criteria for Primary Myelofibrosis (PMF)

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival.

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Diagnostic Criteria for Essential Thrombocytosis (ET)

Essential Thrombocytosis (ET) is the only chronic myeloproliferative disorder (MPD) without a specific phenotype. Because isolated thrombocytosis can be the initial clinical manifestation of polycythemia vera (PV), primary myelofibrosis (PMF), or chronic myelogenous leukemia, ET is not only a diagnosis of exclusion, it should also not be considered a single disease entity.

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New Diagnostic Criteria for Common Variable Immune Deficiency (CVID)

Common variable immunodeficiency disorders (CVIDs) are the most frequent symptomatic primary immune deficiency condition in adults. The genetic basis for the condition is not known and no single clinical feature or laboratory test can establish the diagnosis; it has been a diagnosis of exclusion. In areas of uncertainty, diagnostic criteria can provide valuable clinical information.

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Diagnosis of Subclinical Hyperthyroidism

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.

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Criteria for the Diagnosis of POEMS Syndrome

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.

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Revised Criteria for Diagnosis of Alzheimer’s Disease (AD)

The National Institute on Aging and the Alzheimer’s Association (NIA-AA) charged a workgroup with the task of developing criteria for the symptomatic predementia phase of Alzheimer’s disease (AD), referred to in this article as mild cognitive impairment due to AD. 

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