Objective: Familial Partial Lipodystrophy due to LMNA (lamin A/C) mutations (FPLD2) is a rare disorder characterized by a selective loss of adipose tissue and insulin resistance. Dyslipidemia and severe diabetes often occur during its evolution. Only isolated and contradictory case reports have been published on the obstetrical prognosis in lipodystrophy. The aim of our study was to compare the fertility and occurrence of obstetrical complications of women with FPLD2 with those of non-affected relatives, women from the general population and women with polycystic ovary syndrome (PCOS).

Material and methods: Data was obtained from clinical follow-up of seven families with patients exhibiting mutations in LMNA (5 R482W, 1 R482Q, 1 R439C) (14 affected among 48 women).

Results: The mean number of live children per woman was 1.7 in affected patients vs. 2.8 in non-affected relatives. Fifty-four percent of LMNA-mutated women exhibited a clinical phenotype of PCOS, 28% suffered from infertility, 50% experienced at least one miscarriage, 36% developed gestational diabetes and 14% experienced eclampsia and fetal death. Mean blood leptin level was significantly lower in LMNA-mutated patients than in non-affected relatives (5.0±3.8 ng/ml vs 14.3±3.6; p<0.001) despite similar BMI (21.0±4.2 vs 22.4±2.2; p=0.49).

Conclusion: In these LMNA-linked lipodystrophic patients, the prevalence of PCOS, infertility and gestational diabetes was higher than in the general population. Moreover, the prevalence of gestational diabetes and miscarriages was higher in lipodystrophic LMNA-mutated women than previously reported in PCOS women with similar BMI. Women with lipodystrophies due to LMNA mutations are at high risk of infertility, gestational diabetes and obstetrical complications and require reinforced gynecological and obstetrical care.