Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene

F H Herrmann; K Wulff; G Auerswald; S Schulman; J Astermark; A Batorova; W Kreuz; H Pollmann; A Ruiz-Saez; N De Bosch; L Salazar-Sanchez; Greifswald Factor FVII Deficiency Study Group

doi:10.1111/j.1365-2516.2008.01910.x

Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene

Standard

Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. / Herrmann, F H; Wulff, K; Auerswald, G; Schulman, S; Astermark, J; Batorova, A; Kreuz, W; Pollmann, H; Ruiz-Saez, A; De Bosch, N; Salazar-Sanchez, L; Greifswald Factor FVII Deficiency Study Group.

In: HAEMOPHILIA, Vol. 15, No. 1, 01.01.2009, p. 267-80.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Herrmann, FH, Wulff, K, Auerswald, G, Schulman, S, Astermark, J, Batorova, A, Kreuz, W, Pollmann, H, Ruiz-Saez, A, De Bosch, N, Salazar-Sanchez, L & Greifswald Factor FVII Deficiency Study Group 2009, 'Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene', HAEMOPHILIA, vol. 15, no. 1, pp. 267-80. https://doi.org/10.1111/j.1365-2516.2008.01910.x

APA

Herrmann, F. H., Wulff, K., Auerswald, G., Schulman, S., Astermark, J., Batorova, A., Kreuz, W., Pollmann, H., Ruiz-Saez, A., De Bosch, N., Salazar-Sanchez, L., & Greifswald Factor FVII Deficiency Study Group (2009). Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. HAEMOPHILIA, 15(1), 267-80. https://doi.org/10.1111/j.1365-2516.2008.01910.x

Vancouver

Herrmann FH, Wulff K, Auerswald G, Schulman S, Astermark J, Batorova A et al. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. HAEMOPHILIA. 2009 Jan 1;15(1):267-80. https://doi.org/10.1111/j.1365-2516.2008.01910.x

Bibtex

@article{8868bd2330ce427a9fc6b1bcb97bd879,

title = "Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene",

abstract = "The congenital FVII deficiency (FVIID) is a rare haemorrhagic disorder with an autosomal recessive pattern of inheritance. Data on phenotype and the genotype from 717 subjects in Central Europe (six countries), Latin America (Costa Rica, Venezuela) and United States, enrolled in the Greifswald Registry of FVII Deficiency were analysed. We detected 131 different mutations in 73 homozygous, 145 compound heterozygous and 499 heterozygous subjects. Regional differences were observed in the mutation pattern and the clinical profile of the evaluated patients. Seventy-one per cent of homozygous and 50% of compound heterozygous subjects were symptomatic. The clinical manifestations of the homozygous subjects were characterized by intracranial haemorrhage (2%), gastrointestinal bleeding (17%), haemarthrosis (13%), epistaxis (58%), gum bleeding (38%), easy bruising (37%), haematoma (15%), haematuria (10%) and menorrhagia (19 of 26 females, 73%). The clinical variability and genotype-phenotype correlation was evaluated in the homozygous subjects. The pattern of bleeding symptoms among compound heterozygous patients was severe and similar to that of the homozygous patients. The large-scale analysis of 499 heterozygous subjects shows that 93 (19%) presented with spontaneous bleeding symptoms such as haemarthrosis (4%), epistaxis (54%), gum bleeding (14%), easy bruising (38%), haematoma (23%), haematuria (5%) and menorrhagia (19 of 45 females; 42%). The severe haemorrhages - intracranial and gastrointestinal - were not reported in heterozygous subjects. The clinical variability and the regional differences in the mutation pattern are discussed regarding care and treatment.",

keywords = "Adolescent, Adult, Base Sequence, Child, Child, Preschool, DNA Mutational Analysis, Factor VII, Factor VII Deficiency, Female, Genotype, Hemorrhage, Heterozygote, Homozygote, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Phenotype, Young Adult",

author = "Herrmann, {F H} and K Wulff and G Auerswald and S Schulman and J Astermark and A Batorova and W Kreuz and H Pollmann and A Ruiz-Saez and {De Bosch}, N and L Salazar-Sanchez and {Greifswald Factor FVII Deficiency Study Group}",

year = "2009",

month = jan,

day = "1",

doi = "10.1111/j.1365-2516.2008.01910.x",

language = "English",

volume = "15",

pages = "267--80",

journal = "HAEMOPHILIA",

issn = "1351-8216",

publisher = "Wiley-Blackwell",

number = "1",

}

RIS

TY - JOUR

T1 - Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene

AU - Herrmann, F H

AU - Wulff, K

AU - Auerswald, G

AU - Schulman, S

AU - Astermark, J

AU - Batorova, A

AU - Kreuz, W

AU - Pollmann, H

AU - Ruiz-Saez, A

AU - De Bosch, N

AU - Salazar-Sanchez, L

AU - Greifswald Factor FVII Deficiency Study Group

PY - 2009/1/1

Y1 - 2009/1/1

N2 - The congenital FVII deficiency (FVIID) is a rare haemorrhagic disorder with an autosomal recessive pattern of inheritance. Data on phenotype and the genotype from 717 subjects in Central Europe (six countries), Latin America (Costa Rica, Venezuela) and United States, enrolled in the Greifswald Registry of FVII Deficiency were analysed. We detected 131 different mutations in 73 homozygous, 145 compound heterozygous and 499 heterozygous subjects. Regional differences were observed in the mutation pattern and the clinical profile of the evaluated patients. Seventy-one per cent of homozygous and 50% of compound heterozygous subjects were symptomatic. The clinical manifestations of the homozygous subjects were characterized by intracranial haemorrhage (2%), gastrointestinal bleeding (17%), haemarthrosis (13%), epistaxis (58%), gum bleeding (38%), easy bruising (37%), haematoma (15%), haematuria (10%) and menorrhagia (19 of 26 females, 73%). The clinical variability and genotype-phenotype correlation was evaluated in the homozygous subjects. The pattern of bleeding symptoms among compound heterozygous patients was severe and similar to that of the homozygous patients. The large-scale analysis of 499 heterozygous subjects shows that 93 (19%) presented with spontaneous bleeding symptoms such as haemarthrosis (4%), epistaxis (54%), gum bleeding (14%), easy bruising (38%), haematoma (23%), haematuria (5%) and menorrhagia (19 of 45 females; 42%). The severe haemorrhages - intracranial and gastrointestinal - were not reported in heterozygous subjects. The clinical variability and the regional differences in the mutation pattern are discussed regarding care and treatment.

AB - The congenital FVII deficiency (FVIID) is a rare haemorrhagic disorder with an autosomal recessive pattern of inheritance. Data on phenotype and the genotype from 717 subjects in Central Europe (six countries), Latin America (Costa Rica, Venezuela) and United States, enrolled in the Greifswald Registry of FVII Deficiency were analysed. We detected 131 different mutations in 73 homozygous, 145 compound heterozygous and 499 heterozygous subjects. Regional differences were observed in the mutation pattern and the clinical profile of the evaluated patients. Seventy-one per cent of homozygous and 50% of compound heterozygous subjects were symptomatic. The clinical manifestations of the homozygous subjects were characterized by intracranial haemorrhage (2%), gastrointestinal bleeding (17%), haemarthrosis (13%), epistaxis (58%), gum bleeding (38%), easy bruising (37%), haematoma (15%), haematuria (10%) and menorrhagia (19 of 26 females, 73%). The clinical variability and genotype-phenotype correlation was evaluated in the homozygous subjects. The pattern of bleeding symptoms among compound heterozygous patients was severe and similar to that of the homozygous patients. The large-scale analysis of 499 heterozygous subjects shows that 93 (19%) presented with spontaneous bleeding symptoms such as haemarthrosis (4%), epistaxis (54%), gum bleeding (14%), easy bruising (38%), haematoma (23%), haematuria (5%) and menorrhagia (19 of 45 females; 42%). The severe haemorrhages - intracranial and gastrointestinal - were not reported in heterozygous subjects. The clinical variability and the regional differences in the mutation pattern are discussed regarding care and treatment.

KW - Adolescent

KW - Adult

KW - Base Sequence

KW - Child

KW - Child, Preschool

KW - DNA Mutational Analysis

KW - Factor VII

KW - Factor VII Deficiency

KW - Female

KW - Genotype

KW - Hemorrhage

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Male

KW - Middle Aged

KW - Molecular Sequence Data

KW - Mutation

KW - Phenotype

KW - Young Adult

U2 - 10.1111/j.1365-2516.2008.01910.x

DO - 10.1111/j.1365-2516.2008.01910.x

M3 - SCORING: Journal article

C2 - 18976247

VL - 15

SP - 267

EP - 280

JO - HAEMOPHILIA

JF - HAEMOPHILIA

SN - 1351-8216

IS - 1

ER -