Contributions
Abstract: PB1745
Type: Publication Only
Background
Niemann Pick Disease type A and B is a rare autosomal recessive disorder caused by sphingomyelinasa deficiency resulting in sphingomyelin accumulation in macrophages of varies organs. In type B usually patients survive in adulthood. Usually, they have hepatosplenomegaly, thrombocytopenia, and dyslipidemia. Lung and liver function are influenced, and they have bleeding risk.
Aims
Pregnancy in this situation is always risky and multidisciplinary approach is needed. Searching on Medline we found only two case reports of childbirth by women with this condition.
Methods
We presented a case of pregnancy in 34 year old women with Nieman Pick disease type B. She had marked splenomegaly, mild thrombocytopenia and partial respiratory insufficiency. Previously, she had two artificial abortions without more than expected bleeding. Also she had surgery of left side inguinal hernia and after that she was given platelet concentrates. Risk factors for pregnancy were presented to her.
Results
Conclusion
We presented a case of pregnancy in 34 year old women with Nieman Pick disease type B. Marked splenomegaly, mild thrombocytopenia and partial respiratory insufficiency existed before this pregnancy. Decisions about diagnostic assesment, platelet transfusion, splenectomy, and dyslipidemia treatment were made upon data from literature and patient’s findings.
Session topic: 33. Bleeding disorders (congenital and acquired)
Keyword(s): Platelet function, Lysosomal storage disease, Spleen, Pregnancy
Abstract: PB1745
Type: Publication Only
Background
Niemann Pick Disease type A and B is a rare autosomal recessive disorder caused by sphingomyelinasa deficiency resulting in sphingomyelin accumulation in macrophages of varies organs. In type B usually patients survive in adulthood. Usually, they have hepatosplenomegaly, thrombocytopenia, and dyslipidemia. Lung and liver function are influenced, and they have bleeding risk.
Aims
Pregnancy in this situation is always risky and multidisciplinary approach is needed. Searching on Medline we found only two case reports of childbirth by women with this condition.
Methods
We presented a case of pregnancy in 34 year old women with Nieman Pick disease type B. She had marked splenomegaly, mild thrombocytopenia and partial respiratory insufficiency. Previously, she had two artificial abortions without more than expected bleeding. Also she had surgery of left side inguinal hernia and after that she was given platelet concentrates. Risk factors for pregnancy were presented to her.
Results
Conclusion
We presented a case of pregnancy in 34 year old women with Nieman Pick disease type B. Marked splenomegaly, mild thrombocytopenia and partial respiratory insufficiency existed before this pregnancy. Decisions about diagnostic assesment, platelet transfusion, splenectomy, and dyslipidemia treatment were made upon data from literature and patient’s findings.
Session topic: 33. Bleeding disorders (congenital and acquired)
Keyword(s): Platelet function, Lysosomal storage disease, Spleen, Pregnancy