Paroxysmal nocturnal haemoglobinuria in a patient with primary Budd-Chiari syndrome: a contraceptive challenge

Case report: In this report, we describe the unique case of a 21 year-old woman, gravida 1, para 1, with paroxysmal nocturnal haemoglobinuria (PNH) and Budd-Chiari syndrome, as well as severe vaginismus and cervical stenosis, in need of contraception. Herein, we present the clinical considerations and implications taken to arrive at the right contraceptive choice for the patient.

Discussion: Budd-Chiari syndrome is defined by the presence of hepatic venous outflow tract obstruction, which may be due to a number of underlying causes. PNH is a rare, acquired, life-threatening disease characterised by red blood cell destruction (haemolytic anaemia), blood clots (thrombosis) and impaired bone marrow function. PNH is a known underlying cause of Budd?Chiari syndrome. Patients with PNH carry an increased risk of mortality, particularly during pregnancy. As such, pregnancy is absolutely contraindicated in these patients, who require strict contraceptive regimens. However, the presence of both PNH and Budd?Chiari syndrome limits contraceptive choices and poses a contraceptive challenge.