Núria Pujol-Moix1,2*, Blanca Jimenez2, Eduardo Muñiz-Diaz3, Manel Roca4, Joan Carles Souto2,5
1Medicine Department, Unitat Docent Sant Pau, Universitat Autònoma de Barcelona, Spain
2Institute of Biomedical Research (IIB-Sant Pau), Barcelona, Spain
3Division of Immunohematology, Banc de Sang i Teixits de Catalunya, Barcelona, Spain
4Nuclear Medicine Department, Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Spain
5Unitat d'Hemostàsia i Trombosi, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
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.
ITP = immune thrombocytopenia
Ig = immunoglobuin, immunoglobulins
AD = autoimmune disorder, autoimmune disorders
DOI: 10.29245/2572-9411/2018/4.1167 Read More