APPROACH TO PREGNANCY IN NIEMANN PICK DISEASE TYPE B PATIENT
Author(s): ,
Danijela Agić
Affiliations:
Clinic for hematology,Clinical Center Vojvodina,Novi Sad,Serbia;Medical Faculty,University of Novi Sad,Novi Sad,Serbia
,
Vera Dinic Uzurov
Affiliations:
Clinic for hematology,Clinical Center Vojvodina,Novi Sad,Serbia
,
Ivana Milošević
Affiliations:
Clinic for hematology,Clinical Center Vojvodina,Novi Sad,Serbia
,
Olivera Rankov
Affiliations:
Clinic for gynecology and obstetrician,Clinical Center Vojvodina,Novi Sad,Serbia
,
Pavle Milosevic
Affiliations:
Clinic for abdominal and endocrine surgery,Clinical Center Vojvodina,Novi Sad,Serbia
,
Gorana Mitic
Affiliations:
Department for trombosis, hemostasis and hematology diagnostic,Clinical Center Vojvodina,Novi Sad,Serbia
,
Ivana Kavecan
Affiliations:
Center for Medical Genetics,Institute for Children and Youth Health Care of Vojvodina,Novi Sad,Serbia
Sinisa Stojic
Affiliations:
Clinic for gynecology and obstetrician,Clinical Center Vojvodina,Novi Sad,Serbia
EHA Library. Agić D. 05/18/17; 182459; PB1745
Danijela Agić
Danijela Agić
Contributions
Abstract

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

Laboratory controls were done periodically, ultrasound examination of abdomen and portal vein system, lung capacity and echocardiography were performed, too. Results of CBC were stable. Repeated tests of hemostasis were normal. Hyperlipoproteinaemia type IIb with hypoHDL cholesterolemia was present. We assumed that platelets dysfunction could exist, therefore before planned amniocentesis we performed platelets aggregation tests with ADP, TRAP and collagen. All of them were below lower limit: ADP 43 (55-117), TRAP 71 (92-151), col. 30 (61-108). Ultrasound examination of abdomen and portal vein sistem revieled liver diameter 17cm, craniocaudal diameter of spleen 22cm, portal vein had not been seen. There were no sign of trombosis in portal branches. Amniocentesis was done without complication and there was no need for platelet substitution. Normal male kariotype was found. We prepare her for planned caesarian section with platelet concentrates. She was given corticosteroids for lung maturation. In 35th+5d gestational week she was operated. Before surgery platelets count was 87x109/l, she was given seven concentrates of platelets (1 per 10 kg body weight) before and seven during procedure. She also received antibiotic prophylaxis. Newborn was 47cm, 2490g weight and Apgar score was 7/8. There was no major blood loss and no need for red blood cell transfusion or platelets transfusion in follow up period. We decided not to make splenectomy or partial resection because there were no significant differences in spleen measurements before and during the pregnancy, and there was no sign of spleen trauma. Also, in literature we found data about worsening lung function after this procedure caused by more shingomyelin accumulation in pulmonal tissue. Published data and findings of abnormal platelet function in our patient and experience with previous abdominal surgery led our decision to give her platelet concentrates before section and according to obstetrician’s estimation during the operation.
Pregnancy did not cause health state deterioration in our patient and there are no clinical findings of Niemann Pick disease in newborn.

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.

Multidisciplinary approach in this setting is needed. Bleeding risk is not connected only with platelet count, but also with their function and degree of splenomegaly. Liver function can also be disturbed and can influence hemostasis. Pregnancy in our patient did not cause health state deterioration and there were no clinical findings of Niemann Pick disease in newborn.

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

Laboratory controls were done periodically, ultrasound examination of abdomen and portal vein system, lung capacity and echocardiography were performed, too. Results of CBC were stable. Repeated tests of hemostasis were normal. Hyperlipoproteinaemia type IIb with hypoHDL cholesterolemia was present. We assumed that platelets dysfunction could exist, therefore before planned amniocentesis we performed platelets aggregation tests with ADP, TRAP and collagen. All of them were below lower limit: ADP 43 (55-117), TRAP 71 (92-151), col. 30 (61-108). Ultrasound examination of abdomen and portal vein sistem revieled liver diameter 17cm, craniocaudal diameter of spleen 22cm, portal vein had not been seen. There were no sign of trombosis in portal branches. Amniocentesis was done without complication and there was no need for platelet substitution. Normal male kariotype was found. We prepare her for planned caesarian section with platelet concentrates. She was given corticosteroids for lung maturation. In 35th+5d gestational week she was operated. Before surgery platelets count was 87x109/l, she was given seven concentrates of platelets (1 per 10 kg body weight) before and seven during procedure. She also received antibiotic prophylaxis. Newborn was 47cm, 2490g weight and Apgar score was 7/8. There was no major blood loss and no need for red blood cell transfusion or platelets transfusion in follow up period. We decided not to make splenectomy or partial resection because there were no significant differences in spleen measurements before and during the pregnancy, and there was no sign of spleen trauma. Also, in literature we found data about worsening lung function after this procedure caused by more shingomyelin accumulation in pulmonal tissue. Published data and findings of abnormal platelet function in our patient and experience with previous abdominal surgery led our decision to give her platelet concentrates before section and according to obstetrician’s estimation during the operation.
Pregnancy did not cause health state deterioration in our patient and there are no clinical findings of Niemann Pick disease in newborn.

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.

Multidisciplinary approach in this setting is needed. Bleeding risk is not connected only with platelet count, but also with their function and degree of splenomegaly. Liver function can also be disturbed and can influence hemostasis. Pregnancy in our patient did not cause health state deterioration and there were no clinical findings of Niemann Pick disease in newborn.

Session topic: 33. Bleeding disorders (congenital and acquired)

Keyword(s): Platelet function, Lysosomal storage disease, Spleen, Pregnancy

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