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Dr Ari Zimran told the Italian Conference in April 1996 that he had assessed 53 of his female Gauchers patients regarding their obstetric and gynaecological status. Their age ranged from 16 to 58 years with their disease varying considerably from nearly half mildly affected, 40% moderate to 15% severe. Dr Zimran is head of the Gauchers Clinic at the Shaare Zedek Hospital in Jerusalem, the second largest Gauchers Clinic in the world.
Two thirds of the women had their first menstruation after 14 years of age, two at age 17 and one started aged 19 after she had begun Ceredase. 'The possible delay could be due to the high energy expenditure caused by an enlarged spleen or by growth retardation', explained Dr Zimran who felt this was relevant regarding osteoporosis where in general a late start is associated with a higher risk.
Only 25% had normal menstruation while 75% had moderate to severe bleeding. Dr Zimran attributed this to anaemia, low platelets and factor XI deficiency. Treatment consisted of:
Most of his patients used the second of these.
There were no more side effects from oral hormonal contraceptives than in the general population but IUD contraception caused more problems such as unwanted pregnancy, bleeding and the device being expelled.
Dr Zimran said: 'There are two aspects to consider for women having children:
The reproductive potential of the women was the same as in the general population. He had gathered data on 33 women who had had 102 pregnancies. Thirty eight pregnancies had bleeding in the first trimester and five in the second and third.
There were 25 spontaneous abortions which was a higher incidence than normal. 'However this is not a reason to avoid pregnancy,' he said. Other complications which occurred were no higher than in the normal population.
Out of 70 births, most women had normal delivery. 13% were delivered by Caesarean section, which is lower than in the general population in USA. Dr Zimran thought that this was because the Israelis were less keen on Caesareans generally and stressed that Caesarean delivery for patients with Gauchers disease should not be routine, but only given for clear obstetric reasons.
Complications after birth were similar to the general population but there was a higher incidence of early haemorrhage in the mothers, especially after a Caesarean. The weight of the babies was normal.
Effect of Pregnancy on Gauchers Disease
Twenty five percent of the women were diagnosed with Gauchers disease during pregnancy. Anaemia and low platelets were aggravated during pregnancy but afterwards returned to normal individual levels.
In seven women with histories of bone crises (21% of his survey), their sketal manifestations worsened during pregnancy but most of the women experienced well being while pregnant.
Enzyme Replacement Therapy
Dr Zimran said: 'Although there has been an improvement on menstrual bleeding with patients who have commenced enzyme replacement therapy, it is too early to report an effect on the age of menarche (the start of menstruation). It was also too early to judge the effect on osteoporosis.
The concerns regarding the use of Ceredase during pregnancy were:
The benefits were:
'We know five women who have taken Ceredase during pregnancy', said Dr Zimran. 'Four have had children with no adverse affects on either the mother or baby; the fifth is still pregnant. They have shown improved status compared with pre-vious pregnancies prior to therapy.'
Dr Zimran then gave brief details:
1. One patient had Ceredase infusions for two years before she stopped to become pregnant. She restarted Ceredase after 3 months of pregnancy due to a deterioration of her condition. The baby was well.
2. The mother conceived whilst taking Ceredase. She had had two previous spontaneous abortions (when she had not been on treatment). She continued her pregnancy on treatment and had a healthy son by Caesarean section.
3. This patient had her first child, a healthy daughter, at age 34. She was not on treatment and suffered severe bleeding afterwards, needing a blood transfusion. She started Ceredase and continued for three years. She stopped for conception but restarted Ceredase after three months of pregnancy. She produced a healthy child with no complication and no need for a blood transfusion.
4. The mother successfully produced a healthy daughter after Ceredase treatment and a hip replacement.
5. A mother had had six pregnancies with only the second one producing a healthy daughter after complications. The other five resulted in abortion or death at birth. After 2 years therapy, the woman became pregnant and is remaining on treatment. So far the pregnancy has not shown any complications.
Nine patients had reached the menopause and all had significant osteoporosis. Six were receiving hormone replacement therapy. Females in the general population have a lower bone mass than men but they live longer than men. They also suffer three times the amount of fractures in the hip and spine. Compression of the vertebra (bones in the spine) is the biggest problem for sufferers of Gauchers disease and osteoporosis.
Hormone Replacement Therapy
Dr Zimran described the pros and cons of hormone replacement therapy.
The advantages are:
The disadvantages were:
The Working Group on Gauchers Disease which consists of doctors from America, Europe and Israel has compiled three protocols in a study which attempts to assess the bone deterioration in post-menopausal women:
1. Standard Care = HRT + Calcium + Vitamin D
2. Bisphosphonates + Standard Care
3. Enzyme Replacement Therapy + Standard Care
The US patients are on high dose therapy while the European and Israeli patients are on low dose. Some of these patients may not include HRT in the Standard Care. (See page 15 for more on bisphosphonates.) Dr Zimran said he did not know how long it would take to collect data.
In April 1996, Dr Zimran was appointed Associate Professor in recognition of his international work on Gauchers Disease. He has become a good friend and adviser to the UK Association and we send him our congratulations.
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Source: Gauchers News September 1996
© Copyright Gauchers Association 1996