Sitosterolemia is an autosomal recessive condition leading to increased absorption of plant sterols from the intestine. A woman in her first pregnancy presented with thrombocytopenia and a family history of sitosterolaemia. Genetic analysis confirmed an ABCG8 (G-ATP binding cassette transporters) mutation. She was started on ezetimibe and had no complications other than thrombocytopenia. She underwent an emergency cesarean delivery at 37 weeks of gestation. Post-operatively both the mother and the baby did well. While sitosterolaemia is not directly linked to pregnancy complications such as diabetes and pre-eclampsia, its impact on lipid metabolism can indirectly increase the risk. It is important to distinguish it from familial hypercholesterolemia as sitosterolemia responds better to ezetimibe and is relatively non-responsive to statins. This case report shows that sitosterolemia, though an uncommon diagnosis, can manifest in many ways, in this case being thrombocytopenia. With dietary modifications and appropriate therapy, these patients can have a normal pregnancy.
Background:Hypertension can arise de novo or persist in the postnatal period. Limited data exist regarding the use of amlodipine in the postpartum period. Materials and methods:A service evaluation of women prescribed amlodipine postnatally in the maternity department at Guy's and St Thomas' NHS Foundation Trust from April to November 2020 was conducted. Data were obtained by reviewing hospital records and conducting a telephone survey. Results:Of the 100 women who were prescribed postnatal amlodipine, 43 completed the telephone survey and were included in the analysis. There were no stillbirths, neonatal deaths or significant congenital malformations. Duration of treatment varied from less than 1 week to 1 year postpartum. None of the women taking amlodipine during breastfeeding reported any problems: 23/43 (53.5%) exclusively breastfed and 10/43 (23.3%) mixed-fed. Discussion:We report the largest case series of postpartum amlodipine use, providing reassuring data regarding its safety and efficacy in this population.
Interstitial lung disease (ILD) comprises a heterogeneous group of chronic pulmonary disorders. ILD is associated with impaired gas exchange and progressive respiratory dysfunction. Due to improved survival and delayed childbearing, healthcare providers increasingly encounter pregnancy in women with ILD, but the evidence on management remains limited. Pregnancy in ILD poses a high risk and necessitates early preconception evaluation, risk stratification and a multidisciplinary management approach. This review aims to summarise current knowledge regarding diagnostic evaluation, treatment strategies, obstetric management and maternal-fetal outcomes in women with ILD. Understanding these aspects is essential for optimising care for women with ILD who are planning to conceive or are already pregnant.
Deep vein thrombosis (DVT) during pregnancy requires timely anticoagulation to prevent complications; however, the early postpartum period is associated with an inherently elevated risk of hemorrhage, creating competing management priorities. Herein, we describe the case of a woman with dichorionic diamniotic twin pregnancy who developed progressive femoral DVT despite therapeutic unfractionated heparin (UFH) and concurrent preeclampsia and acute kidney injury. Although postoperative hemostasis after caesarean delivery initially appeared stable, therapeutic UFH was restarted early as DVT continued to progress, requiring the resumption of standard treatment. Despite seemingly adequate early hemostasis, the woman developed a massive uterine wall hematoma that required uterine artery embolization. This case illustrates the complexity of balancing thrombotic urgency against fragile postpartum hemostasis and highlights the importance of individualized anticoagulation strategies for obstetricians, surgeons, anesthesiologists, and perioperative teams caring for high-risk patients.
Anti-GAD antibody-associated epilepsy (AAE) is a rare neurological condition arising as a consequence of autoantibodies against the intracellular antigen glutamic acid decarboxylase (GAD) 65. It most commonly manifests in women of childbearing age, with persistent seizures, often refractory to therapy. Here described is a woman in her first pregnancy, with anti-GAD AAE, managed in pregnancy with a combination of anti-seizure medications (ASM) and intravenous immunoglobulin. Escalation of her medication doses was required as her pregnancy progressed in response to falling ASM levels and increased seizure frequency. She delivered a healthy neonate following induction of labour at 38 weeks’ gestation due to intrahepatic cholestasis, potentially related to azathioprine use. Early neonatal anti-GAD antibody testing and baseline neurological examination were undertaken with developmental follow-up planned, given the uncertain significance of passively transferred maternal antibodies.
Eplerenone is a mineralocorticoid receptor antagonist with minimal affinity for androgen receptors. Mineralocorticoid receptor antagonists are efficacious in the management of resistant hypertension, obstructive sleep apnea, cardiac dysfunction, renal tubular disorders, hepatic cirrhosis, portal hypertension, diabetic nephropathy, proteinuric kidney disease, and chronic central serous chorioretinopathy in the general population. Five cases describing the use of eplerenone in pregnancy are discussed, the previous literature reviewed, and potential indications for the use of eplerenone in pregnancy discussed.
The prevalence of the common LCHAD c.1528G>C p.(Glu510Gln) pathogenic variant in the HADHA gene in women and neonates with acute fatty liver of pregnancy is unclear. A review of nine case series comprising 113 pregnancies complicated by acute fatty liver of pregnancy, where maternal and/or fetal genetic testing was performed, found the LCHAD c.1528G>C p.(Glu510Gln) variant in only five cases (4.4%). In addition, an online survey disclosed no maternal and/or fetal pathogenic variants in 23 women who recalled the results of gene testing. Only a small minority of women with a clinical diagnosis of acute fatty liver of pregnancy have the common LCHAD c.1528G>C p.(Glu510Gln) variant on genetic testing.
Background:Renal tubular acidosis (RTA) is a disorder of renal acid-base regulation causing normal anion gap metabolic acidosis. Among its three types, distal RTA (dRTA) is the most common form. Methods:This retrospective case series included pregnancies complicated by RTA managed at Fernandez Hospital, Hyderabad, India, between 2008 and 2024. Maternal and perinatal outcomes data were obtained from medical records. Results:Among 133,542 deliveries, 19 pregnancies were complicated by RTA, giving an incidence of 0.014%. All cases were Type I dRTA, with 84% secondary to connective tissue disorders, predominantly Sjögren's syndrome. Recurrent hypokalaemic periodic paralysis was the most common complication. With early diagnosis and meticulous metabolic correction, most women achieved term deliveries with favourable maternal and neonatal outcomes. Conclusions:Renal tubular acidosis in pregnancy may worsen due to physiological changes. Untreated disease poses risks from chronic acidosis and electrolyte imbalance. Early recognition and multidisciplinary management are crucial for optimal outcomes.
We report the case of a 32-year-old pregnant woman who presented at 9 weeks of gestation with severe hyperemesis gravidarum (HG) and metabolic disturbances. Biochemical testing revealed hypercalcemia with an inappropriately elevated parathyroid hormone (PTH) level. Subsequent imaging identified a parathyroid adenoma. This case highlights primary hyperparathyroidism as a rare but important differential diagnosis in refractory HG and underscores the diagnostic challenges of interpreting calcium and PTH values during pregnancy.
Homozygous familial hypercholesterolaemia (HoFH) is a rare condition characterised by markedly elevated low-density lipoprotein and early-onset atherosclerotic cardiovascular disease. Described here is a woman with HoFH and premature ischaemic heart disease who presented during her first pregnancy with poorly-controlled hyperlipidaemia. Despite ongoing treatment with lipid-lowering therapy and lipoprotein apheresis, she developed exertional angina at 17 weeks' gestation and was diagnosed with multi-vessel coronary artery disease. She underwent successful off-pump coronary artery bypass grafting at 19 weeks. She made a good recovery and the rest of her pregnancy progressed well, with delivery of a healthy infant at 37 weeks following emergency caesarean section. This case highlights the high cardiovascular risk associated with HoFH in pregnancy and the importance of multi-disciplinary management, including consideration of lipid-lowering therapy, lipoprotein apheresis and surgical intervention.
We report a rare case of miliary tuberculosis (TB) diagnosed in the peripartum period in a 38-year-old woman with a background of Crohn's disease who was on immunosuppressive therapy. This case highlights the diagnostic challenges of TB in pregnancy and postpartum, especially in the context of underlying immunosuppression and non-specific systemic symptoms.
A case of generalised urticaria reaction to enoxaparin, fondaparinux and danaparoid in a twin pregnancy complicated by deep vein thrombosis is presented. The management challenges in pregnant women intolerant of parenteral anticoagulants are discussed.
Aims:To determine the impact of tighter glycaemic targets for gestational diabetes. Methods:Retrospective data analysis before and after introducing tighter glucose targets. Results:In 2265 pregnancies there was no change in large-for-gestational age babies (Odds ratio (OR) 1.1; 95% Confidence interval (CI) 0.8-1.6) and macrosomia (OR 1.0; 95% CI 0.6-1.7) following tighter glucose targets. Gestational hypertension (OR 0.4; 95% CI 0.2-0.7), spontaneous vaginal birth (OR 0.6; 95% CI 0.4-0.9) reduced and pharmacological treatment increased (OR 2.2; 95% CI 1.7-2.8).Composite adverse neonatal outcome (perinatal death, shoulder dystocia, fracture, nerve palsy) (OR 0.6; CI 0.02-14.2 p = 0.76)), Apgar<7 at 5 min, neonatal hypoglycaemia, respiratory distress syndrome or neonatal unit admission did not change but neonatal jaundice was reduced (OR 0.4; 95% CI 0.2-0.8). Conclusions:Tighter glycaemic targets had no impact on large-for-gestational age babies or composite adverse neonatal outcomes. There was reduced spontaneous vaginal birth, gestational hypertension, neonatal jaundice and increased pharmacological treatment.
Dexamphetamine, a central nervous system stimulant, is increasingly prescribed to women of childbearing age, yet data on its safety in pregnancy, particularly for narcolepsy, remains limited. This case series examined pregnancy outcomes in 10 women with narcolepsy or idiopathic hypersomnolence at the Royal Brisbane and Women's Hospital who were prescribed dexamphetamine during pregnancy. Six women continued therapy throughout pregnancy. Apart from one case complicated by congenital CMV infection, all pregnancies progressed to the late third trimester with favourable neonatal outcomes. No cases of pre-eclampsia were observed; one woman developed gestational hypertension. All neonates had normal Apgar scores, with the exception of two where the Apgars were not recorded. However, no neonates required additional ventilatory support. Our findings suggest that therapeutic dexamphetamine use for narcolepsy may not be associated with adverse obstetric or neonatal outcomes. Individualised counselling is essential to balance maternal functional needs against potential pregnancy risks.
Disseminated amoebiasis in pregnancy, though rare, can be life-threatening and mimic bacterial sepsis or inflammatory bowel disease (IBD). We report a case of maternal near-miss at 18 weeks of gestation due to amoebic colitis and liver abscess. The woman presented with fever, bloody diarrhoea, and abdominal pain, initially suspected to be bacterial sepsis, and treated with ceftriaxone. Ultrasound revealed hepatic abscesses and caecal thickening. Following massive rectal bleeding and hypovolemic shock, colonoscopy confirmed Entamoeba histolytica infection. Liver abscess drainage yielded anchovy-sauce pus, and stool, blood, and aspirate cultures were negative. Metronidazole therapy led to clinical improvement. This case highlights the importance of considering disseminated amoebiasis in pregnant women with haemorrhagic diarrhoea and sepsis. Early histopathological confirmation and targeted anti-amoebic therapy are essential for effective management, preventing severe complications such as haemorrhagic shock and liver abscess.
Jervell and Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder characterised by congenital sensorineural hearing loss and prolonged QT interval, predisposing to ventricular arrhythmia and sudden cardiac death. We report a 32-year-old woman with congenital deafness and recurrent syncope since childhood, diagnosed with JLNS due to a homozygous KCNQ1 exon 14 (c.1716-1719del) variant. She had an implantable cardioverter-defibrillator and was maintained on propranolol. During pregnancy, she developed fetal growth restriction and delivered a healthy neonate vaginally under continuous cardiac monitoring. Both mother and baby recovered uneventfully. This case emphasises the importance of genetic confirmation, multidisciplinary care, and vigilant peripartum monitoring in optimising outcomes for pregnancies complicated by JLNS.
Renal angiomyolipomas (RAMLs), the most common mesenchymal neoplasm of the kidney, occur with a significant female preponderance. Most RAMLs are identified as an incidental finding on renal imaging and remain clinically silent. The quality of evidence guiding treatment approach regarding the indications for active intervention in the general population is poor. Reports of high rates of complications of RAML in pregnancy leading to recommendations for active treatment have been based upon case studies and small case series, potentially affected by reporting and publication bias. No clinical studies or large case series have examined the course of RAML during pregnancy. The literature regarding the course, complications and management of RAML in pregnancy is reviewed.
Maternal methanol poisoning is rare but carries significant risks for both mother and fetus, including metabolic acidosis, visual and neurologic injury, and fetal compromise. Methanol freely crosses the placenta, and fetal metabolism of formate is limited, making the fetus particularly susceptible to hypoxic and metabolic injury. Clinical recognition is challenging due to nonspecific early symptoms, and prompt maternal stabilization with antidotal therapy, folate supplementation, and hemodialysis is critical to prevent irreversible fetal damage. Preventive strategies require a multidimensional approach, including public health education, regulatory oversight of methanol-containing products, and standardized clinical protocols for early recognition and treatment. Addressing social determinants of health and ensuring equitable access to maternal care are essential to mitigate risk among vulnerable populations. This review integrates biomedical, obstetric, and public health perspectives to provide a comprehensive overview of maternal-fetal toxicity, clinical presentation, diagnosis, management, and perinatal outcomes.
