Clinical diagnosis and treatment of hereditary thrombocytopenia and purpura: a report of five cases and literature review.
10.3760/cma.j.issn.0253-2727.2023.01.008
- Author:
Xin Bo LYU
1
;
Jie YIN
1
;
Dan Qing KONG
1
;
Hong TIAN
1
;
Yun LI
1
;
Q QYU
1
;
Jian SU
1
;
Li Juan CAO
1
;
Xia BAI
1
;
Zi Qiang YU
1
;
Zhao Yue WANG
1
;
De Pei WU
1
;
Chang Geng RUAN
1
Author Information
1. Jiangsu Institute of Hematology, National Clinical Research Center for Hematologic Disease, NHC Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Soochow University, Suzhou 215006, China.
- Publication Type:Journal Article
- Keywords:
ADAMTS13 protein;
Diagnosis, differential;
Purpura, thrombotic thrombocytopenic
- MeSH:
Female;
Pregnancy;
Humans;
Adult;
Blood Component Transfusion;
Plasma;
Purpura, Thrombotic Thrombocytopenic/therapy*;
Mutation;
Purpura, Thrombocytopenic, Idiopathic;
ADAMTS13 Protein/therapeutic use*
- From:
Chinese Journal of Hematology
2023;44(1):43-47
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To report the clinical manifestations and laboratory features of five patients with congenital thrombotic thrombocytopenic purpura (cTTP) and explore its standardized clinical diagnosis and treatment along with a review of literature. Methods: Clinical data of patients, such as age of onset, disease manifestation, personal history, family history, and misdiagnosed disease, were collected. Treatment outcomes, therapeutic effects of plasma infusion, and organ function evaluation were observed. The relationship among the clinical manifestations, treatment outcomes, and ADAMTS13 gene mutation of patients with cTTP was analyzed. Additionally, detection of ADAMTS13 activity and analysis of ADAMTS13 gene mutation were explored. Results: The age of onset of cTTP was either in childhood or adulthood except in one case, which was at the age of 1. The primary manifestations were obvious thrombocytopenia, anemia, and different degrees of nervous system involvement. Most of the patients were initially suspected of having immune thrombocytopenia. Acute cTTP was induced by pregnancy and infection in two and one case, respectively. ADAMTS13 gene mutation was detected in all cases, and there was an inherent relationship between the mutation site, clinical manifestations, and degree of organ injury. Therapeutic or prophylactic plasma transfusion was effective for treating cTTP. Conclusions: The clinical manifestations of cTTP vary among individuals, resulting in frequent misdiagnosis that delays treatment. ADAMTS13 activity detection in plasma and ADAMTS13 gene mutation analysis are important bases to diagnose cTTP. Prophylactic plasma transfusion is vital to prevent the onset of the disease.
