Hereditary Hemorrhagic Telangiectasia (HHT) in Dentistry: A Literature Review

European Journal of Inflammation

Review Article

L. Salini¹  A. Ballini²  C. Casulli³  C. Foti³  F.R. Grassi⁴  G. De Frenza⁴  S. Cantore⁴  S. Tetè⁵  M. Rapani⁵  F. Mastrangelo⁶ 

[1] D.B.S. - A.S.L. of Chieti;Department of Internal Medicine and Public Health, Division of Medical Genetics, University of Bari; Department of Odontostomatology and Surgery, University of Bari;Department of Internal Medicine, Immunology and Infectious Diseases, Unit of Dermatology, University of Bari, Bari;Department of Odontostomatology and Surgery, University of Bari;Department of Oral Sciences, University G. d'Annunzio, Chieti, Italy;Dr Filiberto Mastrangelo, Department of Oral Science, University of Chieti, Via dei Vestini, 31, 66100 Chieti, Italy, Tel: [phone] - Fax: [phone], e-mail: ;

关键词: hereditary hemorragic telangiectasia;    Rendu-Osler-Weber disease;    hht;    endoglin;    alk1;    vascular malformation;    gene expression;    tgf-beta1 polymorphisms;   

DOI  :  10.1177/1721727X0600400302

 received in 2006-08-02, accepted in 2006-10-10,  发布年份 2006

来源: Sage Journals

【 摘 要 】

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal-dominantly-inherited vascular dysplasia characterized by age-dependant incomplete penetrance and variable expressivity, with clinical manifestations consisting in epistaxis, mucocutaneous telangiectases, gastrointestinal bleeding and arteriovenous malformations (AVMs), which affects approximately ½ million people world-wide. It affects males and females of all racial and ethnic groups. Up to 1/3 of HHT patients have multiple organ involvement, which can be disabling and/or life threatening. HHT can be treated successfully if correctly diagnosed. Morbidity of HHT is often due to complications of AVMs, such as stroke or haemorrhage, also known to occur in children. Many authors have reported successful new therapeutical options for AVMs, which have resulted in a significant decrease of life-threatening complications and HHT morbidity. Since early diagnosis permits an appropriate care of affected subjects, a very sensitive mutation screening technique is required to identify the mutation carriers among all at-risk individuals belonging to HHT-families. There may be one or more genes that cause HHT but, if so, they are quite rare. Currently, scientists are trying to better understand exactly how the abnormal gene can interfere with normal blood vessel formation and promote the phenotype of HHT, so that better treatments for the symptoms of HHT can be developed.

【 授权许可】

Unknown   
© 2006 SAGE Publications