Items in AFP with MESH term: Pedigree
ABSTRACT: To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future. The first review in this series discusses fragile X syndrome.
ABSTRACT: The collection of a family history ranges from simply asking patients if family members have the same presenting illness to diagramming complex medical and psychosocial relationships as part of a family genogram. The three-generation pedigree provides a pictorial representation of diseases within a family and is the most efficient way to assess hereditary influences on disease. Two recent events have made family history assessment more important than ever: the completion of the Human Genome Project with resultant identification of the inherited causes of many diseases, and the establishment of national clinical practice guidelines based on systematic reviews of preventive interventions. The family history is useful in stratifying a patient's risk for rare single-gene disorders and more common diseases with multiple genetic and environmental contributions. Major organizations have endorsed using standardized symbols in pedigrees to identify inherited contributions to disease.
ABSTRACT: Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant disease that occurs in approximately one in 5,000 to 8,000 persons. This multisystem disorder can affect the nose, skin, gastrointestinal tract, lungs, liver, and brain. Epistaxis is the most common presenting problem, occurring in 90 percent of affected patients. Approximately 15 to 30 percent of patients with hereditary hemorrhagic telangiectasia will have an arteriovenous malformation in the lungs and more than 10 percent will have one in the brain. The symptoms of hereditary hemorrhagic telangiectasia are often unrecognized. Many patients, even those with affected family members, may go undiagnosed. Hereditary hemorrhagic telangiectasia is a clinical diagnosis that is based on the presence of three of four criteria (i.e., epistaxis, telangiectasias, visceral arteriovenous malformations, or family history of the disease). Screening and treatment recommendations have been created in an attempt to limit the morbidity and mortality associated with this disease. Patients with confirmed or suspected hereditary hemorrhagic telangiectasia should be screened for brain and lung arteriovenous malformations using magnetic resonance imaging of the brain and contrast echocardiography. Pulmonary arteriovenous malformations can be treated with embolization. Patients with a history of pulmonary arteriovenous malformations or those who have not been screened should use antibiotic prophylaxis before dental treatment, endoscopy, or other procedures that could cause bacteremia because of the risk of paradoxical brain embolism or infection.