Kongenital trombotisk trombocytopen purpura - Ett fall med atypisk bild upptäckt i vuxen ålder
Gustafsson, Helena and Karpman, Diana LU
(2019)
In Läkartidningen
116(7).
- Abstract
Congenital thrombocytopenic purpura (TTP) is a rare but serious condition. We present a case of a 29-year-old woman, diagnosed with this disease in adulthood. The episode that led to diagnosis was triggered by quetiapine. She presented with neurological symptoms and laboratory findings including low platelets and elevated creatinine. Interestingly, the signs of hemolysis were very subtle. Her symptoms were relieved by withdrawal of the medicine. The diagnosis was confirmed by very low ADAMTS13 activity, lack of antibodies against ADAMTS13 and the presence of a compound heterozygous ADAMTS13 mutation. Despite prophylactic plasma infusions, the patient developed a second episode of microangiopathy, leading to an extensive cerebral... (More)
Congenital thrombocytopenic purpura (TTP) is a rare but serious condition. We present a case of a 29-year-old woman, diagnosed with this disease in adulthood. The episode that led to diagnosis was triggered by quetiapine. She presented with neurological symptoms and laboratory findings including low platelets and elevated creatinine. Interestingly, the signs of hemolysis were very subtle. Her symptoms were relieved by withdrawal of the medicine. The diagnosis was confirmed by very low ADAMTS13 activity, lack of antibodies against ADAMTS13 and the presence of a compound heterozygous ADAMTS13 mutation. Despite prophylactic plasma infusions, the patient developed a second episode of microangiopathy, leading to an extensive cerebral infarction. It is possible that even the latter episode was triggered by drugs. We suggest that the diagnosis of TTP should be considered in patients with neurological symptoms and unexplained thrombocytopenia.
(Less)
- author
- Gustafsson, Helena
and Karpman, Diana
LU
- organization
- alternative title
- A case of quetiapine-induced congenital thrombotic thrombocytopenic purpura, atypical phenotype diagnosed in adulthood
- publishing date
- 2019
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Läkartidningen
- volume
- 116
- issue
- 7
- article number
- 313
- publisher
- Swedish Medical Association
- external identifiers
-
- scopus:85062550449
- ISSN
- 0023-7205
- language
- Swedish
- LU publication?
- yes
- id
- 7203a419-440b-43f4-bf18-7518445b96c6
- date added to LUP
- 2019-03-19 09:27:57
- date last changed
- 2022-04-25 22:14:09
@article{7203a419-440b-43f4-bf18-7518445b96c6,
abstract = {{<p>Congenital thrombocytopenic purpura (TTP) is a rare but serious condition. We present a case of a 29-year-old woman, diagnosed with this disease in adulthood. The episode that led to diagnosis was triggered by quetiapine. She presented with neurological symptoms and laboratory findings including low platelets and elevated creatinine. Interestingly, the signs of hemolysis were very subtle. Her symptoms were relieved by withdrawal of the medicine. The diagnosis was confirmed by very low ADAMTS13 activity, lack of antibodies against ADAMTS13 and the presence of a compound heterozygous ADAMTS13 mutation. Despite prophylactic plasma infusions, the patient developed a second episode of microangiopathy, leading to an extensive cerebral infarction. It is possible that even the latter episode was triggered by drugs. We suggest that the diagnosis of TTP should be considered in patients with neurological symptoms and unexplained thrombocytopenia.</p>}},
author = {{Gustafsson, Helena and Karpman, Diana}},
issn = {{0023-7205}},
language = {{swe}},
number = {{7}},
publisher = {{Swedish Medical Association}},
series = {{Läkartidningen}},
title = {{Kongenital trombotisk trombocytopen purpura - Ett fall med atypisk bild upptäckt i vuxen ålder}},
volume = {{116}},
year = {{2019}},
}