Abstract
A variant of von Willebrand disease (vWD) has been identified in a 19-year-old woman with a severe bleeding syndrome. She had a very prolonged bleeding time (over 20 min), 24 U/dl factor VIII coagulant activity (F. VIII:C), 16 U/dl von Willebrand factor antigen (vWF:Ag), no ristocetin cofactor activity, and an anodal mobility of vWF:Ag on crossed immunoelectrophoresis (CIE). vWF:Ag was markedly reduced in her platelet lysate. In plasma and platelets, SDS-agarose electrophoresis consistently demonstrated the absence of large multimers, a relatively increased concentration of the fastest-moving multimer, and gross abnormalities of the internal structure of each vWF multimeric unit. Five members from the maternal side of the family had a double vWF:Ag peak by CIE and a relative increase of the fastest-moving vWF multimer by SDS-agarose elecetrophoresis; no quantiative or qualitative vWF defects were found in the paternal side of the family. The pattern of the findings in the propositus and her family is similar to those of type IIC vWD. However, there are some unique characteristics suggesting phenotypic variability in this subtype, such as low level of platelet vWF:Ag and the absence of increase of vWF after DDAVP administration.
| Original language | English |
|---|---|
| Pages (from-to) | 301-311 |
| Number of pages | 11 |
| Journal | American Journal of Hematology |
| Volume | 22 |
| Issue number | 3 |
| Publication status | Published - 1986 |
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ASJC Scopus subject areas
- Hematology
Cite this
Investigation of a case of subtype IIC von Willebrand disease : Characterization of the variability of this subtype. / Mazurier, C.; Mannucci, P. M.; Parquet-Gernez, A.; Goudemand, M.; Meyer, D.
In: American Journal of Hematology, Vol. 22, No. 3, 1986, p. 301-311.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Investigation of a case of subtype IIC von Willebrand disease
T2 - Characterization of the variability of this subtype
AU - Mazurier, C.
AU - Mannucci, P. M.
AU - Parquet-Gernez, A.
AU - Goudemand, M.
AU - Meyer, D.
PY - 1986
Y1 - 1986
N2 - A variant of von Willebrand disease (vWD) has been identified in a 19-year-old woman with a severe bleeding syndrome. She had a very prolonged bleeding time (over 20 min), 24 U/dl factor VIII coagulant activity (F. VIII:C), 16 U/dl von Willebrand factor antigen (vWF:Ag), no ristocetin cofactor activity, and an anodal mobility of vWF:Ag on crossed immunoelectrophoresis (CIE). vWF:Ag was markedly reduced in her platelet lysate. In plasma and platelets, SDS-agarose electrophoresis consistently demonstrated the absence of large multimers, a relatively increased concentration of the fastest-moving multimer, and gross abnormalities of the internal structure of each vWF multimeric unit. Five members from the maternal side of the family had a double vWF:Ag peak by CIE and a relative increase of the fastest-moving vWF multimer by SDS-agarose elecetrophoresis; no quantiative or qualitative vWF defects were found in the paternal side of the family. The pattern of the findings in the propositus and her family is similar to those of type IIC vWD. However, there are some unique characteristics suggesting phenotypic variability in this subtype, such as low level of platelet vWF:Ag and the absence of increase of vWF after DDAVP administration.
AB - A variant of von Willebrand disease (vWD) has been identified in a 19-year-old woman with a severe bleeding syndrome. She had a very prolonged bleeding time (over 20 min), 24 U/dl factor VIII coagulant activity (F. VIII:C), 16 U/dl von Willebrand factor antigen (vWF:Ag), no ristocetin cofactor activity, and an anodal mobility of vWF:Ag on crossed immunoelectrophoresis (CIE). vWF:Ag was markedly reduced in her platelet lysate. In plasma and platelets, SDS-agarose electrophoresis consistently demonstrated the absence of large multimers, a relatively increased concentration of the fastest-moving multimer, and gross abnormalities of the internal structure of each vWF multimeric unit. Five members from the maternal side of the family had a double vWF:Ag peak by CIE and a relative increase of the fastest-moving vWF multimer by SDS-agarose elecetrophoresis; no quantiative or qualitative vWF defects were found in the paternal side of the family. The pattern of the findings in the propositus and her family is similar to those of type IIC vWD. However, there are some unique characteristics suggesting phenotypic variability in this subtype, such as low level of platelet vWF:Ag and the absence of increase of vWF after DDAVP administration.
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UR - http://www.scopus.com/inward/citedby.url?scp=0022531693&partnerID=8YFLogxK
M3 - Article
C2 - 3087159
AN - SCOPUS:0022531693
VL - 22
SP - 301
EP - 311
JO - American Journal of Hematology
JF - American Journal of Hematology
SN - 0361-8609
IS - 3
ER -