Familial Chronic Thrombocytopenia with Platelet Autoantibodies

Harms, Donald W.; Sachs, V.

doi:10.1159/000209427

Cited by 13 publications

(4 citation statements)

References 4 publications

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“…In analogy to hereditary haemolytic anaemias, a shortened survival rate of platelets (autologous) has been found as cause of thrombocytopenia in dystrophia thrombocytaire haemorrhagipare congenital (Najean et al 1963), in hereditary thrombasthenic-thrombocytopathic thrombocytopenia (Seip & Kjaerheim 1965) and in Hegglin's anomaly (Davis & Wilson 1966). That platelet antibodies may be the operating mechanism also in the inherited type of thrombocytopenia has been suggested by Harms & Sachs (1965). However, in their study the half-life of platelets was not measured.…”

Section: Discussionmentioning

confidence: 98%

Hereditary Thrombocytopenia

Myllylä

Pelkonen

Ikkala

et al. 1967

Scandinavian Journal of Haematology

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Hereditary thrombocytopenia in three families is reported. The defect was obviously transmitted as an autosomal dominant characteristic in two of these. The thrombocytopenia was moderate and the bleeding symptoms were mild but of life‐long duration. Platelet ‐ adhesiveness in vivo and in vitro, clot‐retraction, ADP‐induced aggregation, and platelet factor 3 activity–were normal in all patients studied. The survival of autologous 51Cr‐labelled platelets was at the lower limit of normal or slightly shortened. In the third family autosomal recessive inheritance seemed probable. The bleeding tendency appeared at the age of 9 to 34 years with severe symptoms which rapidly led to death in four of the five patients. Two of the patients showed pancytopenia and this family probably presents a variant of constitutional hypoplastic anaemia. The functional parameters of platelets and the platelet survival in one of the patients were identical with those in the other two families.

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Section: Discussionmentioning

confidence: 98%

Hereditary Thrombocytopenia

Myllylä

Pelkonen

Ikkala

et al. 1967

Scandinavian Journal of Haematology

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“…We found 60 cases of familial ITP in 20 families, reported in 20 articles [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25] Five families had several affected members with different kinship degrees and 2 families had both parents and children affected. Most patients were Caucasian but also Black 13, Chinese 22 , and Arabic 18,23 .…”

Section: Literature Review On Familial Itpmentioning

confidence: 99%

Familial Immune Thrombocytopenia. Report of 16 Cases and Literature Review

Pujol-Moix¹

2018

J Rare Dis Res Treat

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Immune thrombocytopenia (ITP) is an acquired disorder that generally occurs in sporadic individuals, but a few patients are grouped in families. The aims of the present study were: 1) to perform a retrospective descriptive study of a series of patients with familial ITP, and 2) to perform a literature review on familial ITP.We studied 16 ITP patients, from 8 families, selected by using the general established exclusion criteria as well as at least one of the following additional positive criteria: the finding of autoantibodies on the platelet surface, a short platelet survival in the kinetic study, or a clear therapeutic response to immunosupressors or splenectomy. Moreover, we studied 60 patients with familial ITP previously reported in the literature, selected by using the same diagnostic criteria as for our patients. The patient's characteristics of familial ITP were not substantially different from those of sporadic ITP patients. The small number of patients reported in the literature suggests that, familial ITP has been underdiagnosed. We recommend considering the possible diagnosis of familial ITP when a familial thrombocytopenia has no demonstrable genetic cause, especially if there are other autoimmune disorders in the family. Moreover, to obtain a true diagnosis in these families we recommend applying the additional positive criteria mentioned above besides the exclusion diagnostic criteria.

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“…However, the disorder may appear in persons of all ages [48]. Although a few instances of "familial" ITP have been reported [72], a hereditary predisposition in true ITP is unlikely. The published information in these case studies is inadequate for establishing the diagnosis of ITP.…”

Section: Age and Sex Distributionmentioning

confidence: 99%

Idiopathic Thrombocytopenic Purpura (ITP): Clinical and Immunologic Considerations

Mueller‐Eckhardt¹

2008

Semin Thromb Hemost

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Familial Chronic Thrombocytopenia with Platelet Autoantibodies

Cited by 13 publications

References 4 publications

Hereditary Thrombocytopenia

Hereditary Thrombocytopenia

Familial Immune Thrombocytopenia. Report of 16 Cases and Literature Review

Idiopathic Thrombocytopenic Purpura (ITP): Clinical and Immunologic Considerations

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