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A congenital variant of thrombotic thrombocytopenic purpura in two siblings
1Third Department of Internal Medicine, Yamaguchi University School of Medicine, Ube.
Insights
This study details two siblings with chronic relapsing thrombotic thrombocytopenic purpura (TTP) since infancy. Regular plasma transfusions effectively prevented recurrent TTP episodes, suggesting a congenital form of the disease.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder.
- Chronic relapsing forms of TTP are particularly challenging to manage.
- Understanding the underlying causes of TTP is crucial for effective treatment.
Observation:
- Two siblings presented with recurrent episodes of TTP from infancy.
- Clinical manifestations included fever, neurological symptoms, anemia, and thrombocytopenia.
- Chronic anemia with fragmented red blood cells and persistent thrombocytopenia were noted.
Findings:
- The elder brother experienced 50 TTP episodes, while the younger sister had 8.
- Petechiae and ecchymoses were lifelong features in both siblings.
- Periodic transfusion of frozen fresh plasma successfully prevented recurrent TTP episodes.
Implications:
- These cases strongly suggest a congenital or inherited variant of thrombotic thrombocytopenic purpura.
- Early diagnosis and consistent management, such as plasma therapy, are vital for patients with congenital TTP.
- Further research into the genetic basis of this TTP variant is warranted.
Abstract:
We describe two siblings affected by chronic relapsing thrombotic thrombocytopenic purpura from infancy. The elder brother, a 12-year-old boy had 50 such episodes characterized by acute onset of fever, headache, drowsiness, vomiting, dark urine, thrombocytopenia and anemia. The younger sister, a 6-year-old girl, had 8 episodes with the same clinical manifestations. Petechiae and ecchymoses on the extremities were present throughout their lives. Furthermore, anemia with evidence of red blood cell fragmentation and thrombocytopenia were present chronically. Periodical transfusion of frozen fresh plasma prevented recurrent episodes. These cases suggest that there is a congenital variant of thrombotic thrombocytopenic purpura.