Classification of familial adenomatous polyposis: a diagnostic nightmare

Article Abstract:

Familial adenomatous polyposis (FAP) classification is a diagnosis nightmare. A colon-cancer-prone family with a tendency to form small, right-sided adenomas was described in 1988 and eventually the problem was linked to the APC gene with mutations nearer the 5' end. Three classes of APC mutations exist in kindreds having an attenuated phenotype. The range of numbers of adenomas found in those with mutations is very large. Those in practice must be aware of the broad range of signs and symptoms that FAP can present clinically and be aware that classical prophylactic and surveillance practices are not adequate for all cases of FAP. Early upper endoscopy is needed for some families. Those classified as attenuated familial adenomatous polyposis (AFAP) patients should have colonoscopy and polypectomy and if the number of colonic adenomas is so large that they cannot be followed by that means, prophylactic subtotal colectomy with continued follow-up of the rectal segment by endoscopy should be used.

Editorial, Diagnosis, Adenoma, Polyposis, Familial, Familial polyposis

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Genomewide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels

Article Abstract:

A genomewide scan for familial combined hyperlipidemia (FCHL) genes has been carried out in 35 Finnish families. Results suggest multiple susceptibility loci influencing cholesterol, triglyceride and apolipoprotein B levels. FCHL is a common dyslipidemia predisposing to early coronary heart disease. It is characterized by higher levels of serum total cholesterol, triglycerides, or both. The first locus was recently found to be on chromosome 1q21-q23.

Finland, Hyperlipidemia

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