Diagnosis of Hereditary Angioedema (HAE)

Angioedema, also known as Quincke edema or “angioneurotic edema”, is defined as the localized nonpitting edema of deep dermal, subcutaneous, or submucosal tissues resulting from the increase in vascular permeability and extravasation of intravascular fluids; although it can coincide with urticaria in a histamine-mediated process, a differentiating feature is that urticarial wheals are limited to the mid and papillary dermis. Continue reading

Initial Screening for Hereditary Breast and Ovarian Cancer Syndrome

The initial screening for hereditary breast and ovarian cancer syndrome should include specific questions about the patient’s personal and family history of breast and ovarian cancers, risk assessment, education, and counseling.
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Traditional Diagnostic Criteria for Hereditary Hemochromatosis

Hereditary hemochromatosis has been traditionally defined as an inherited disorder characterized by inappropriately high absorption of dietary iron, which leads to abnormal accumulation of iron in parenchymal organs. In 1996, the HFE gene was isolated on chromosome 6. Since this finding hereditary hemochromatosis has been defined by some as the presence of a homozygous defect in the HFE gene with direct or indirect evidence of iron overload.
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Revised Criteria for Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome)

Amsterdam Criteria (1991)

Three or more relatives with colorectal cancer, plus all of the following:

  • One affected patient should be a first-degree relative of the other two;

  • Colorectal cancer should involve at least two generations;

  • At least one case of colorectal cancer should have been diagnosed before the age of 50 years.

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