A curious case of haemolysis, seizure and acute renal failure associated with pregnancy.
Differential diagnosis between thrombotic microangiopathies in pregnancy is challenging due to overlapping clinical and pathological findings and the rapid progression of disease. We present here an unusual case of Haemolysis, Elevated Liver enzymes and Low Platelets (HELLP) syndrome, which represents this diagnostic dilemma. The patient was treated with steroids and plasma exchange, leading to a favourable outcome. Subsequent genetic testing for complement dysregulation revealed a previously unknown variant in intron 3 of the gene coding for the alternative complement pathway factor H: (c.350+9T>C). We discuss here the diagnostic dilemma presented, the treatment pathway in the current literature, and the potential involvement of complement deregulation in severe HELLP. This case underlines the complexity in the diagnosis and management of pregnancy-related thrombotic microangiopathies.
St George's University of London, London, UK.
Konstantinos
K
Koutroutsos
Jennifer
J
Jardine
Louise
L
Ross
Aris
A
Papageorghiou
Roberto
R
Stasi
Debasish
D
Banerjee
D058186:Acute Kidney Injury / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D000328:Adult; D017242:Complement Factor H / Q000235:genetics; D003937:Diagnosis, Differential; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D005260:Female; D014644:Genetic Variation; D017359:HELLP Syndrome / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007438:Introns; D010951:Plasma Exchange; D011237:Predictive Value of Tests; D011247:Pregnancy; D013256:Steroids / Q000627:therapeutic use; D057049:Thrombotic Microangiopathies / Q000175:diagnosis; D016896:Treatment Outcome
D013256:Steroids; D017242:Complement Factor H