Summary
The risk of bleeding during delivery may be increased in women with Gaucher disease.
We aimed to evaluate potential predictors for peripartum haemorrhage (PPH) during
childbirth in these patients, while focusing upon coagulation tests and platelet function
assays. Women with type 1 Gaucher disease who gave birth at Sheba Medical Center between
1999–2009 comprised the study cohort. Data collected included disease history, enzyme
treatment, platelet counts, delivery and pregnancy outcome. PPH was defined as excessive
bleeding during or immediately following delivery. Coagulation studies and platelet
function tests, including aggregometry and cone and platelet (CPA) analyses, were
performed on all women. We compared women with PPH (bleeders) and non-bleeders. Furthermore,
women with abnormal CPA platelet function tests were compared with those with normal
CPA platelet function with regards to the risk for PPH in at least one pregnancy.
Forty-five pregnancies of 20 women were studied. Six women received enzyme replacement
therapy during pregnancy. Mean platelet count prior to delivery was 83,000/μl ± 35,000/μl.
Fourteen out of 45 (31%) deliveries were complicated by PPH. Neither thrombocytopenia
nor enzyme therapy predicted PPH. Twelve out of 13 women with PPH (92.3%) versus 2/7
non-bleeders (28.6%) had impaired platelet aggregation (less than the 3rd percentile of normal average aggregate size values), when tested by CPA, (odds ratio
[OR] 17.8, 95% confidence interval [CI] 2.5; 126.2; p=0.007). Notably, 78.6% of women
with impaired CPA aggregation developed PPH during at least one delivery, as opposed
to 16.7% of those with normal CPA platelet function tests (OR 11.6, 95% CI 1.7–77.7,
p=0.018). In conclusion, women with type 1 Gaucher disease who have abnormal platelet
function tests may have an increased risk of PPH.
Keywords
Type 1 Gaucher disease - peripartum bleeding - PPH - platelet function - Cone and
platelet analyzer (CPA)