Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders

被引：13

作者：

Zaninetti, Carlo ^{[1
]}

Leinoe, Eva ^{[2
,3
]}

Lozano, Maria Luisa ^{[4
]}

Rossing, Maria ^{[5
,6
,7
]}

Bastida, Jose Maria ^{[8
,9
]}

Zetterberg, Eva ^{[10
]}

Rivera, Jose ^{[4
,9
]}

Greinacher, Andreas ^{[1
]}

机构：

[1] Univ Med Greifswald, Inst Transfusionsmed, Ferdinand Sauerbruch Str 1, D-7489 Greifswald, Germany

[2] Univ Hosp, Dept Haematol, Rigshosp, Copenhagen, Denmark

[3] Univ Hosp, Dept Genom Med, Rigshosp, Copenhagen, Denmark

[4] Univ Murcia, Hosp Univ Morales Meseguer, Ctr Reg Hemodonac, Serv Hematol & Oncol Med,IMIB Pascual Parrilla,CIB, Murcia, Spain

[5] Copenhagen Univ Hosp, Ctr Genom Med, Rigshosp, Copenhagen, Denmark

[6] Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark

[7] Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark

[8] Univ Salamanca, Complejo Asistencial Univ Salamanca, Dept Hematol, Inst Invest Biomed Salamanca, Salamanca, Spain

[9] Spanish Soc Thrombosis & Haemostasis, Grp Espanol Alterac Plaquetarias Congenitas, Madrid, Spain

[10] Lund Univ, Dept Translat Med, Clin Coagulat Res Unit, Malmo, Sweden

来源：

JOURNAL OF THROMBOSIS AND HAEMOSTASIS | 2023年 / 21卷 / 04期

关键词：

genetic testing; immuno; fluorescence; thrombocytopenia; BLEEDING ASSESSMENT-TOOL; MUTATIONS; DIAGNOSIS; THROMBOCYTOPENIA; COMMUNICATION; GENETICS; ANKRD26; GFI1B; FORM; SSC;

D O I：

10.1016/j.jtha.2022.12.031

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background: Inherited platelet disorders (IPDs) are rare diseases characterized by reduced blood platelet counts and/or impaired platelet function. Recognizing IPDs is advisable but often challenging. The diagnostic tools include clinical evaluation, platelet function tests, and molecular analyses. Demonstration of a pathogenic genetic variant confirms IPDs. We established a method to assess the platelet phenotype on blood smears using immunofluorescence microscopy as a diagnostic tool for IPDs. Objectives: The aim of the present study was to validate immunofluorescence microscopy as a screening tool for IPDs in comparison with genetic screening.Methods: We performed a blinded comparison between the diagnosis made using immunofluorescence microscopy on blood smears and genetic findings in a cohort of 43 families affected with 20 different genetically confirmed IPDs. In total, 76% of the cases had inherited thrombocytopenia.Results: Immunofluorescence correctly predicted the underlying IPD in the vast majority of patients with 1 of 9 IPDs for which the typical morphologic pattern is known. Thirty of the 43 enrolled families (70%) were affected by 1 of these 9 IPDs. For the other 11 forms of IPD, we describe alterations of platelet structure in 9 disorders and normal findings in 2 disorders.Conclusion: Immunofluorescence microscopy on blood smears is an effective screening tool for 9 forms of IPD, which include the most frequent forms of inherited thrombocytopenia. Using this approach, typical changes in the phenotype may also be identified for other rare IPDs.Background: Inherited platelet disorders (IPDs) are rare diseases characterized by reduced blood platelet counts and/or impaired platelet function. Recognizing IPDs is advisable but often challenging. The diagnostic tools include clinical evaluation, platelet function tests, and molecular analyses. Demonstration of a pathogenic genetic variant confirms IPDs. We established a method to assess the platelet phenotype on blood smears using immunofluorescence microscopy as a diagnostic tool for IPDs. Objectives: The aim of the present study was to validate immunofluorescence microscopy as a screening tool for IPDs in comparison with genetic screening.Methods: We performed a blinded comparison between the diagnosis made using immunofluorescence microscopy on blood smears and genetic findings in a cohort of 43 families affected with 20 different genetically confirmed IPDs. In total, 76% of the cases had inherited thrombocytopenia.Results: Immunofluorescence correctly predicted the underlying IPD in the vast majority of patients with 1 of 9 IPDs for which the typical morphologic pattern is known. Thirty of the 43 enrolled families (70%) were affected by 1 of these 9 IPDs. For the other 11 forms of IPD, we describe alterations of platelet structure in 9 disorders and normal findings in 2 disorders.

引用

页码：1010 / 1019

页数：10