O13 Ten years follow up of hereditary hemorrhagic patients in the dental practice

✍ Scribed by S.P. Makris; M.P. Makris; A. Papadopoulos; P.E. Makris

• Publisher: Elsevier Science
• Year: 2007
• Tongue: English
• Weight: 47 KB
• Volume: 21
• Category: Article
• ISSN: 0268-960X
• DOI: 10.1016/s0268-960x(07)70031-0

✦ Synopsis

frequency of mucocutaneous bleeds and serious gynecological pathology in females with severe FVII deficiency. Evaluation of 58 pts with dysFBG (FBG:coag//FBG:Ag 0.66/2.8 g/L) showed 28 (48%) asymptomatic individuals, 27 (47%) and 2 (3.4%) have mild bleeding symptoms and a history of thrombosis, respectively. Nine (8%) of 107 surgeries performed in 33 pts w/o FBG prophylaxis were complicated with bleeding. Gene analysis performed in 26 pts revealed heterozygous mutation Aa Arg 16 gHis in FGA exon 2 in 3 families and a novel heterozygous mutation Aa Gly 13 gGlu in FGA exon 2 in 2 families. Six out of 14 pts with hypo-FBG (FBG coag/Ag 1.1/1.2 g/L) had mild bleeding tendency, 8 (22%) out of 36 surgeries w/o replacement were complicated with bleeding. A heterozygous novel mutation Trp 3 Stop was identified in FGG exon 1 in 3 families (FBG:coag 1.1 g/L) and heterozygous mutation Trp253Cys in FGG exon 7 (FBG:coag/Ag levels of 0.7/0.8 g/L Fibrinogen Bratislava) in one pt with serious postpartum bleeding.

Conclusion:

The clinical manifestation of the rare bleeding disorders is often variable. The gene analysis may be of value for genetic counselling, however, further studies are warranted to stipulate the usefulness of gene defect identification for the prediction of clinical phenotype.