Pregnancy in Gaucher Disease

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In the past, some women with Gauchers disease were discouraged from child-bearing and therapeutic termination was sometimes advocated due to feared risks to the mother. Despite this, many women with Gaucher Disease have produced healthy babies, even before enzyme replacement therapy. Linda Richfield, Clinical Nurse Specialist at the Gaucher Centre at the Royal Free Hospital talked about pregnancy in Gauchers disease at the Conference on 30 November 2004.

Ten years of experience with enzyme replacement therapy has demonstrated that the majority of symptoms in Gaucher Disease improve and the threat to maternal health is significantly reduced. Overall the majority of pregnancies proceed to term without complication.

The safety of enzyme replacement therapy during pregnancy has not been tested in clinical trials. However several successful births have been reported in women who have continued with treatment and also in those who have chosen to interrupt therapy until after the birth. I present three cases of pregnancy in women with Gaucher Disease managed by our Centre:

Case 1

A 28 year old woman diagnosed with Gaucher Disease during her first pregnancy in 1995 had low blood counts and severe abdominal discomfort caused by a large liver and spleen pressing on her uterus.

Normal delivery of a baby girl took place at 38 weeks gestation. The woman was also found to be factor X1 deficient with abnormal clotting. She started enzyme replacement therapy with Ceredase in 1997, later switching to Cerezyme. She responded well to treatment. Her blood counts normalised in less than a year and her abnormal clotting improved. Her liver and spleen reduced markedly in size.

Her second pregnancy was confirmed in 1998 and she continued with Cerezyme throughout her pregnancy (at a slightly reduced dose), the aim being to maintain stable blood counts and avoid the complications evident during her first pregnancy. She had an uncomplicated pregnancy and a normal delivery at term of a healthy baby boy. Good blood counts were maintained throughout the confinement.

Case 2

A 27 year old lady had been diagnosed with Gaucher Disease when she was three years old, after the diagnosis of her brother, then aged five. Both had undergone splenectomy in late childhood (12 and 14 respectively). Both these patients were unaware that enzyme replacement therapy had been available from 1990 in the UK and consequently missed out on 10 years of enzyme replacement and the potential benefits.

Both referred themselves to our unit having discovered information on current treatment and the specialist centres via the Gauchers Association Internet website. This lady, at the time of presentation to our centre, was by then 16 weeks pregnant with her first child. It was decided to wait until after she had delivered her baby before initiating enzyme replacement therapy, due to her understandable concerns over starting treatment during pregnancy.

Her blood counts and clotting were stable, however her liver was markedly enlarged. Labour was induced pre-term at 37 weeks due to abdominal discomfort caused by the enlarged liver impin-ging on her pregnant uterus. The delivery of a healthy baby boy (now aged 3 years) was uneventful. This patient commenced Cerezyme after the birth and has responded well, her liver size is now almost normal.

Case 3

A 36 year old lady suffered a history of three consecutive miscarriages, all occurring during the first trimester, (three months of pregnancy) over a span of four years. Following the third miscarriage, blood tests were taken which revealed a low platelet count. A bone marrow test was performed at her local hospital, which was sent to the Royal Free Hospital diagnostic lab for analysis. The marrow sample showed Gauchers cells.

She was referred to our centre for management of her Gaucher Disease. Additional blood tests revealed that this lady has an anti-phospholipid syndrome in addition to her underlying Gaucher Disease. This is known to cause miscarriage and may have contributed to her repeated pregnancy losses. It can be treated with low dose Aspirin and a special type of Heparin (anti-coagulant) when she next considers pregnancy.

She commenced Cerezyme a year ago, her platelet count has risen, she now has normal haemoglobin levels and her enlarged liver and spleen have reduced significantly. We hope that this overall management will result in a successful outcome of pregnancy in the near future.

Screening for anticardiolipin antibodies

Reports have shown that this syndrome is fairly common among the general population and has been reported in women with Gaucher Disease. It can easily be managed and there may be an indication to screen some women with Gaucher Disease of child-bearing age, especially if there is a poor obstetric history.


Our experience shows that enzyme replacement therapy, by improving the health status of women, results in more successful outcomes of pregnancy. It is safe to continue therapy during pregnancy especially if the benefits outweigh the theoretical risks. The decision to continue or interrupt therapy should be made on an individualised basis.

Pregnancy in Type 3 women When asked if a woman with Type 3 had successfully had a baby, Prof Cox said he had one patient with Type 3 who had successfully had two children.

A report by Dr Debby Elstein on the outcome of pregnancy was published in Gauchers News, October 2002.

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Source: Gauchers News March 2004.
© Copyright Gauchers Association 2004.