Dr Lara Gibson1, Ms Kushani Hewathi2, Dr Pamela Anjara1,2,3
1Western Health, St Albans, Australia, 2The University of Melbourne, Parkville, Australia, 3Northern Health, Epping, Australia
Biography:
Dr Lara Gibson is a current senior resident in Obstetrics and Gynaecology, based at Joan Kirner Women’s & Children’s Hospital, Western Health. She has an interest in women’s health and education, with an aim to continue in a career in O&G as a trainee on the RANZCOG training program.
Abstract:
Aim: To explore Familial Mediterranean Fever (FMF) and its effects on pregnancy outcomes
Method: Describe a case report of FMF in pregnancy
Background: FMF is a rare genetic, auto-inflammatory condition, characterised by febrile episodes and serositis. Occasionally, amyloidosis can occur, leading to severe renal disease. The characteristic MEFV gene mutation leads to activation of inflammasomes and subsequent cascades and is the target for treatment modalities. First-line treatment is colchicine, which significantly reduces frequency and severity of flares and rates of amyloidosis. In pregnancy, FMF is clinically significant as it can lead to adverse outcomes; including higher rates of preterm birth, fetal growth restriction and preeclampsia.
Case Report: Ms JS is a 20yo, current G1P0, diagnosed with FMF age five. Three of her family also have FMF, confirmed with genetic testing. Her flares consist of fever, pleuritis, and peritonitis and she had recurrent episodes through adolescence, averaging 2-3 yearly on 500mcg Colchicine BD. The frequency and severity of her flares stabilised. In pregnancy JS has had multiple episodes of severe abdominal pain, fevers and elevated CRP, with normal proteinuria. Her colchicine dose was increased to 1000mcg BD, with no further episodes to date.
Discussion: Colchicine has been validated as safe in pregnancy, breastfeeding and on 10-year follow up. 5-10% of FMF patients are colchicine non-responders, and emerging alternatives have limited safety evidence in pregnancy.
Renal amyloidosis typically presents with proteinuria, and in pregnancy has been associated with further complications; including preeclampsia, worsening renal disease, growth restriction and stillbirth. Determining peri-conception baseline creatinine and proteinuria levels can be beneficial in predicting pregnancy complications.
Conclusion: FMF in pregnancy can cause adverse pregnancy outcomes, including preterm birth. Colchicine treatment is first-line and is safe for use in pregnancy and breastfeeding. Peri-conception monitoring for renal amyloidosis can be predictive for poor maternal and fetal outcomes.
Keywords
Familial Mediterranean Fever, Colchicine, Amyloidosis
References
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Turgal M, Selcuk I, Ozyuncu O. Pregnancy outcome of five patients with renal amyloidosis regarding familial Mediterranean fever. Ren Fail. 2014;36(2):306-8.
Sotskiy PO, Sotskaya OL, Hayrapetyan HS, Sarkisian TF, Yeghiazaryan AR, Atoyan SA, et al. Infertility Causes and Pregnancy Outcome in Patients With Familial Mediterranean Fever (FMF) and Controls. The Journal of Rheumatology. 2020:jrheum.200574.