Clinical diagnosis and treatment of hereditary thrombocytopenia and purpura: a report of five cases and literature review / 中华血液学杂志
Chinese Journal of Hematology
; (12): 43-47, 2023.
Article
in Zh
| WPRIM
| ID: wpr-969706
Responsible library:
WPRO
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.Key words
Full text:
1
Database:
WPRIM
Main subject:
Plasma
/
Purpura, Thrombotic Thrombocytopenic
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Purpura, Thrombocytopenic, Idiopathic
/
Blood Component Transfusion
/
ADAMTS13 Protein
/
Mutation
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Hematology
Year:
2023
Document type:
Article