OBJECTIVE: To inventory the possibilities of tracing relatives of patients with familial hypercholesterolaemia (FH) by means of family tree research and DNA diagnostics. DESIGN: Descriptive. METHOD: Blood from patients with the clinical diagnosis of 'FH' was sent, through one of the lipid outpatient clinics in the country, to the Foundation for Tracing Hereditary Hypercholesterolaemia (StOEH) for DNA examination, to characterize the genetic defect. If a mutation was diagnosed in this index patient, he was invited by telephone by a StOEH staff member to have DNA testing done in relatives (especially those of the first degree). The data were stored in a data base. The analysis concerns the patients approached in 1994-1997, as well as those in whom the serum concentration of LDL cholesterol was also determined in 1993-1995. RESULTS: A total of 3013 persons were approached and examined: 146 index patients and 2867 relatives. The DNA diagnosis of 'FH' was made in 1067 relatives (37.2%), 585 (54.8%) women and 482 (45.2%) men. Of these, 21.2% were younger than 20 years, 37.0% 20-39 years, 26.6% 40-59 years and 15.2% > or = 60 years; 44.1% reported being known with a raised cholesterol level, 29.4% were treated with cholesterol-reducing drugs and 6.1% were suffering from a cardiovascular disease. Of the 990 persons in whom the serum LDL cholesterol level was determined, 325 (32.8%) were carriers of a mutation in the LDL receptor gene. 21.2% Of them had a LDL cholesterol level < P95. In the non-carrier group, 14.6% had a serum LDL cholesterol level > P95. CONCLUSION: Tracing FH patients is feasible in practice and leads to detection of as yet untreated patients.
OBJECTIVE: To inventory the possibilities of tracing relatives of patients with familial hypercholesterolaemia (FH) by means of family tree research and DNA diagnostics. DESIGN: Descriptive. METHOD: Blood from patients with the clinical diagnosis of 'FH' was sent, through one of the lipidoutpatient clinics in the country, to the Foundation for Tracing Hereditary Hypercholesterolaemia (StOEH) for DNA examination, to characterize the genetic defect. If a mutation was diagnosed in this index patient, he was invited by telephone by a StOEH staff member to have DNA testing done in relatives (especially those of the first degree). The data were stored in a data base. The analysis concerns the patients approached in 1994-1997, as well as those in whom the serum concentration of LDL cholesterol was also determined in 1993-1995. RESULTS: A total of 3013 persons were approached and examined: 146 index patients and 2867 relatives. The DNA diagnosis of 'FH' was made in 1067 relatives (37.2%), 585 (54.8%) women and 482 (45.2%) men. Of these, 21.2% were younger than 20 years, 37.0% 20-39 years, 26.6% 40-59 years and 15.2% > or = 60 years; 44.1% reported being known with a raised cholesterol level, 29.4% were treated with cholesterol-reducing drugs and 6.1% were suffering from a cardiovascular disease. Of the 990 persons in whom the serum LDL cholesterol level was determined, 325 (32.8%) were carriers of a mutation in the LDL receptor gene. 21.2% Of them had a LDL cholesterol level < P95. In the non-carrier group, 14.6% had a serum LDL cholesterol level > P95. CONCLUSION: Tracing FHpatients is feasible in practice and leads to detection of as yet untreated patients.
Authors: A H ten Asbroek; P J de Mheen; J C Defesche; J J Kastelein; L J Gunning-Schepers Journal: J Epidemiol Community Health Date: 2001-07 Impact factor: 3.710
Authors: Robyn Fossey; David Kochan; Erin Winkler; Joel E Pacyna; Janet Olson; Stephen Thibodeau; John J Connolly; Margaret Harr; Meckenzie A Behr; Cynthia A Prows; Beth Cobb; Melanie F Myers; Nancy D Leslie; Bahram Namjou-Khales; Hila Milo Rasouly; Julia Wynn; Alexander Fedotov; Wendy K Chung; Ali Gharavi; Janet L Williams; Lynn Pais; Ingrid Holm; Sharon Aufox; Maureen E Smith; Aaron Scrol; Kathleen Leppig; Gail P Jarvik; Georgia L Wiesner; Rongling Li; Mary Stroud; Jordan W Smoller; Richard R Sharp; Iftikhar J Kullo Journal: J Pers Med Date: 2018-01-03
Authors: Jorie Versmissen; Daniëlla M Oosterveer; Mojgan Yazdanpanah; Abbas Dehghan; Hilma Hólm; Jeanette Erdman; Yurii S Aulchenko; Gudmar Thorleifsson; Heribert Schunkert; Roeland Huijgen; Ranitha Vongpromek; André G Uitterlinden; Joep C Defesche; Cornelia M van Duijn; Monique Mulder; Tony Dadd; Hróbjartur D Karlsson; Jose Ordovas; Iris Kindt; Amelia Jarman; Albert Hofman; Leonie van Vark-van der Zee; Adriana C Blommesteijn-Touw; Jaap Kwekkeboom; Anho H Liem; Frans J van der Ouderaa; Sebastiano Calandra; Stefano Bertolini; Maurizio Averna; Gisle Langslet; Leiv Ose; Emilio Ros; Fátima Almagro; Peter W de Leeuw; Fernando Civeira; Luis Masana; Xavier Pintó; Maarten L Simoons; Arend F L Schinkel; Martin R Green; Aeilko H Zwinderman; Keith J Johnson; Arne Schaefer; Andrew Neil; Jacqueline C M Witteman; Steve E Humphries; John J P Kastelein; Eric J G Sijbrands Journal: Eur J Hum Genet Date: 2014-06-11 Impact factor: 4.246