Download PDF
Thromb Haemost 1984; 51(02): 275-278
DOI: 10.1055/s-0038-1661076
Original Article
Schattauer GmbH Stuttgart

A Study of a Caucasian Family with Variant von Willebrand’s Disease in Association with Vascular Telangiectasia and Haemoglobinopathy

W Hanna
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
D McCarroll
*   The Blood Center of Southeastern Wisconsin, Milwaukee, Wisconsin, U.S.A.
,
D Lin
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
W Chua
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
T P McDonald
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
J Chen
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
C Congdon
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
R D Lange
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
› Author Affiliations
Further Information

Publication History

Received 10 October 1983

Accepted 21 February 1984

Publication Date:
19 July 2018 (online)

  PDF Download  Permissions and Reprints

Summary

A family was identified which carries multi-haematological disorders including Type IIA von Willebrand’s disease, vascular telangiectasia, and a haemoglobinopathy (haemoglobin S trait). In the affected individuals, the von Willebrand’s disease varies in its expression from an asymptomatic form to a severe form especially in those patients with telangiectasia. Some patients have vascular telangiectasia in the mucous membranes of the mouth and lips. In two patients endoscopy disclosed telangiectasia in the mucous membranes of the gastrointestinal tract. All of the patients who had telangiectasia also had von Willebrand’s disease. An incidental finding was the presence of an abnormal haemoglobin (haemoglobin S) in some family members. The pattern of inheritance of the haemoglobinopathy was unrelated to the inheritance pattern of von Willebrand’s disease. The presence of haemoglobin S did not interfere with the aggregation of platelets in response to ristocetin.

Keywords

Variant II A von Willebrand’s disease - Haemoglobinopathy - Vascular telangiectasia
 

  • References

  • 1 Montgomery RR, Zimmerman TS. Von Willebrand’s disease antigen II. A new plasma and platelet antigen deficient in severe von Willebrand’s disease. J Clin Invest 1978; 61: 1498-1507
    CrossrefPubMedGoogle Scholar
  • 2 Hoyer LW. Von Willebrand’s disease. Prog Hemostas Thromb 1976; 3: 213-287
    PubMedGoogle Scholar
  • 3 Nilsson IM, Holmberg L. Von Willebrand’s disease today. Clin Haematol 1979; 8: 147-168
    PubMedGoogle Scholar
  • 4 Ruggeri ZM, Zimmerman TS. Variant von Willebrand’s disease Characterization of the two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 1980; 65: 1318-1325
    CrossrefPubMedGoogle Scholar
  • 5 Ruggeri ZM, Pareti FI, Mannucci PM, Ciavarella N, Zimmerman TS. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand’s disease. N Engl J Med 1980; 302: 1047-1051
    CrossrefPubMedGoogle Scholar
  • 6 Weiss HJ, Meyer D, Rabinowitz R, Pietu G, Girma J-P, Vici WJ, Rogers J. Pseudo-von Willebrand’s disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers N Eng J Med 1982; 306: 326-333
    CrossrefPubMedGoogle Scholar
  • 7 Sibly C. Center for Disease Control Thrombosis and Hemostasis Procedures. III. Procedures Used in the Thrombosis and Hemostasis Laboratory. U.S. Department of Health, Education, and Welfare, Public Health Service. Center for Disease Control; Atlanta, GA: 30333 1977
    Google Scholar
  • 8 Breckenridge RT, Ratnoff OD. Studies on the nature of the circulating anticoagulant directed against antihemophilic factor: With notes on an assay for antihemophilic factor. Blood 1962; 20: 137-149
    PubMedGoogle Scholar
  • 9 McCarroll DR, Ruggeri ZM, Montgomery RR. The effect of DDAVP on plasma levels of von Willebrand’s antigen II in normal individuals and patients with von Willebrand’s disease. Blood 1984; 63: 532-535
    PubMedGoogle Scholar
  • 10 Zimmerman TS, Hoyer LW, Dickson L, Edgington TS. Determination of the von Willebrand’s disease antigen (factor VIII-related antigen) in plasma by quantitative immunoelectrophoresis. J Lab Clin Med 1975; 86: 152-159
    PubMedGoogle Scholar
  • 11 Hanna W, McCarroll D, McDonald T, Painter P, Tuller J, Chen J, Lange R. Variant von Willebrand’s disease and pregnancy. Blood 1981; 58: 873-879
    PubMedGoogle Scholar
  • 12 Ivy AC, Nelson D, Bucher GR. Standardization of certain factors in cutaneous “venostasis” bleeding time technique. J Lab Clin Med 1941; 26: 1812-1822
    PubMedGoogle Scholar
  • 13 Salzman EW. Measurement of platelet adhesiveness. A simple in vitro technique demonstrating an abnormality in von Willebrand’s disease J Lab Clin Med 1963; 62: 724-735
    PubMedGoogle Scholar
  • 14 Montgomery RR, Hathaway WE, Johnson J, Jacobson L, Muntean W. A variant of von Willebrand’s disease with abnormal expression of Factor VIII procoagulant activity. Blood 1982; 60: 201-207
    PubMedGoogle Scholar
  • 15 Holme S, Holmsen H. ADP-induced refractory state of platelets in vitro. I. Methodological studies on aggregation in platelet rich plasma. Scand J Haematol 1975; 15: 96-103
    PubMedGoogle Scholar
  • 16 Swann DA, Chesney CM, Constable IJ, Colman RW, Caulfield JB, Harper E. The role of vitreous collagen in platelet aggregation in vitro and in vivo. J Lab Clin Med 1974; 84: 264-274
    PubMedGoogle Scholar
  • 17 McDonald TP, Clift R. Mechanism of thrombocytopenia induced in mice by anti-platelet serum. Haemostasis 1976; 5: 38-50
    PubMedGoogle Scholar
  • 18 Smithies O. Zone electrophoresis in starch gels: Group variations in serum proteins of normal human adults. Biochem J 1955; 61: 629-641
    CrossrefPubMedGoogle Scholar
  • 19 Anson ML, Mirsky AE. Protein coagulation and its reversal: Preparation of insoluble globin, soluble globin and heme. J Gen Physiol 1930; 13: 469-476
    CrossrefPubMedGoogle Scholar
  • 20 Clegg JB, Naughton MA, Weatherall DJ. Separation of the α and β- chains of human hemoglobin. Nature 1968; 219: 69-70
    CrossrefPubMedGoogle Scholar
  • 21 Lin KD. Use of a low salt, alkaline buffer in the elution of basic amino acid from a single-column amino acid analyzer. J Chromatogr 1977; 132: 160-164
    CrossrefPubMedGoogle Scholar
  • 22 Jappson JO, Sjöquist J. Thin-layer chromatography of PTH amino acids. Anal Biochem 1967; 18: 264-269
    CrossrefPubMedGoogle Scholar
  • 23 Smithies O, Gibson D, Fanning EM, Goodfiliesh RM, Gilman JG, Ballantyne DL. Quantitative procedures for use with the Edman-Begg sequenator. Partial sequences of two unusual immunoglobin light chains, R.z.f. and Sac Biochemistry 1971; 10: 4912-4921
    CrossrefPubMedGoogle Scholar
  • 24 Ingram VM. Gene mutations in human haemoglobin: The chemical differences between normal and sickle cell haemoglobin. Nature 1957; 180: 326-328
    CrossrefPubMedGoogle Scholar
  • 25 Leichtman DA, Brewer GJ. A plasma inhibitor of ristocetin-induced platelet aggregation in patients with sickle hemoglobinopathies. Am J Hematol 1977; 2: 251-258
    CrossrefPubMedGoogle Scholar
  • 26 Ramsay DM, Buist TA, Macleod DA D, Heading RC. Persistent gastrointestinal bleeding due to angiodysplasia of the gut in von Willebrand’s disease. Lancet 1976; 2: 275-278
    PubMedGoogle Scholar
  • 27 Ahr DJ, Rickies FR, Hoyer LW, O’Leary DS, Conrad ME. Von Willebrand’s disease and hemorrhagic telangiectasia. Association of two complex disorders of hemostasis resulting in life-threatening hemorrhage Am J Med 1977; 62: 452-458
    CrossrefPubMedGoogle Scholar
  • 28 Conlon CL, Weinger RS, Cimo PL, Moake JL, Olson JD. Telangiectasia and von Willebrand’s disease in two families. Ann Intern Med 1978; 89: 921-924
    CrossrefPubMedGoogle Scholar
  • 29 Jaffe EA, Hoyer LW, Nachman RL. Synthesis of antihemophilic factor antigen by cultured human endothelial cells. J Clin Invest 1973; 52: 2757-2764
    CrossrefPubMedGoogle Scholar
  • 30 Potter EV, Chediak J, Green D. Absence of ristocetin aggregation factor from the skin of a patient with von Willebrand’s disease. Lancet 1976; 1: 514-515
    PubMedGoogle Scholar
  • 31 Holmberg L, Mannucci PM, Turesson I, Ruggeri ZM, Nilsson IM. Factor VIII antigen in the vessel walls in von Willebrand’s disease and haemophilia A. Scand J Haematol 1974; 13: 33-38
    PubMedGoogle Scholar
  • 32 Weinger RS, Benson GS, Villarreal S. Gross hematuria associated with sickle cell trait and von Willebrand’s disease. J Urol 1979; 122: 136-137
    CrossrefPubMedGoogle Scholar
  • 33 Abildgaard CF, Suzuki Z, Harrison J, Jefcoat K, Zimmerman TS. Serial studies in von Willebrand’s disease: Variability versus “variants”. Blood 56: 712-716
    PubMedGoogle Scholar
  • 34 Miller CH, Graham JB, Goldin LR, Elston RC. Genetics of classic von Willebrand’s disease. I. Phenotypic variation within families. Blood 1979; 54: 117-136
    PubMedGoogle Scholar