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Upshaw-Schulman syndrome in two siblings
1Department of Pediatrics, Shimane Medical University, Izumo, Japan.
Acta Paediatrica Japonica : Overseas Edition
|August 1, 1990
Summary
Upshaw-Schulman syndrome, a rare condition, was observed in two brothers, suggesting a potential genetic link. Their symptoms improved with plasma transfusions, indicating a possible deficiency in a specific plasma factor.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Upshaw-Schulman syndrome is a rare disorder characterized by microangiopathic hemolytic anemia and thrombocytopenia.
- Familial occurrence of Upshaw-Schulman syndrome has not been previously reported.
Observation:
- Two Japanese brothers presented with symptoms from birth, including hemolytic anemia, thrombocytopenia, and fragmented red blood cells.
- Unusually large von Willebrand factor (vWF) multimers were detected in patient plasma during remission.
- These large vWF multimers decreased significantly with low platelet counts.
Findings:
- Patients showed temporary improvement in hemolytic anemia and thrombocytopenia following plasma transfusions from normal donors.
- The findings suggest a potential deficiency in an unidentified, genetically determined plasma factor in these patients.
Implications:
- This case report suggests a possible genetic basis for Upshaw-Schulman syndrome, challenging previous understanding.
- Identification of the missing plasma factor could lead to targeted therapies for affected individuals.
- Further research into familial cases is warranted to elucidate the genetic underpinnings of this rare syndrome.