Eur J Anaesthesiol 2013; 30:770–780

CORRESPONDENCE Anaesthesia and orphan disease: laparoscopic cholecystectomy with paroxysmal nocturnal haemoglobinuria and human mAb therapy Maria Vargas, Clara Lallo, Annachiara Marra and Giuseppe Servillo From the Department of Anaesthesia and Intensive Care Medicine, University of Naples ‘Federico II’, Naples, Italy Correspondence to Maria Vargas, MD, University of Naples ‘Federico II’, naples, Italy Tel: +39 339 687 6440; e-mail: [email protected] Published online 10 June 2013

Editor, Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, clonal haematopoietic stem cell (HSC) disease. It occurs as a result of the non-malignant clonal expression of one or several HSCs with a somatic mutation of the X-chromosome gene PIG-A, required for the synthesis of glycosyl phosphatidylinositol (GPI).1 This is a rare disorder with a prevalence in the community of 0.55/ 100 000,2 and a 5-year mortality of approximately 35%. Median survival is around 10 to 15 years,3 and after bone marrow transplant, the probability of 2-year survival is 56%, with the majority of deaths within one year of transplantation.1 Clinical symptoms of PNH depend on the action of activated complement on the GPI-deficient erythrocytes4 and can be inhibited by blocking the formation of the membrane attack complex (MAC).5 Eculizumab (Alexion Pharmaceuticals Cheshire, CT) is a human monoclonal antibody (mAb), recently approved by the US Food and Drug Administration, which binds C5 preventing its activation to C5b and thereby inhibiting MAC formation.6 Information on the anaesthetic management of patient with PNH, presenting for elective cholecystectomy, is scant.7 With the consent of our patient, we report the anaesthetic management of a woman with PNH and heterozygote mutation of enzyme 5,10 methyltetrahydrofolate-reductase (MTHFR), undergoing elective cholecystectomy during eculizumab treatment. A 65 year old woman with recurrent symptomatic cholelithiasis was admitted to our hospital for elective laparoscopic cholecystectomy. She gave a history of intermittent phases of aplastic anaemia, with increased reticulocytes and serum concentration of lactate dehydrogenase (LDH), complicated by two episodes of ischaemic 0265-0215 ß 2013 Copyright European Society of Anaesthesiology

stroke, deep vein thrombosis and high fluctuating level of homocysteine, due to MTHFR mutation. The diagnosis of MTHFR mutation had been previously established with DNA analysis during screening for thrombophilia, when the homocysteine levels were found to be elevated. During the seven weeks before surgery, her clinical condition worsened significantly with episodes of biliary colic and severe anaemia, treated with red cell transfusion, although the homocysteine level was in the normal range. Her therapy with eculizumab was changed from 450 to 600 mg per week at the fifteenth preoperative day and, at the same time, prophylactic low molecular weight heparin (LMWH) 4000 IU daily was started and maintained until the third postoperative day. Three days before surgery, the last dose of mAb was administered, and the day before surgery she was transfused one unit of packed red blood cells. Two hours before surgery, an intravenous catheter (16 Gauge) was inserted and antibiotic prophylaxis was administered. In the operating room, general anaesthesia was induced with propofol 150 mg, cisatracurium besylate 14 mg and target-controlled infusion (TCI) of remifentanil 0.1 mg kg min1 before endotracheal intubation, and after maintained with sevoflurane 1 to 2% and remifentanil TCI. She was ventilated during the 45 min of surgery with an equal mixture of oxygen and air, and monitored with a five-lead ECG, noninvasive arterial pressure monitor, pulse oximeter, capnograph, bispectral index (BIS), urine output and body temperature. At the end of surgery, the patient was easily extubated after clinical recovery of neuromuscular function. Postoperative analgesia was provided by meperidine hydrochloride infusion 300 mg daily and paracetamol 1 g six hourly for two days. Main laboratory findings of the perioperative period are summarised in Table 1. Analysis of complement components C3 and C4, measured 24 h before (C3B C4B), during (C3D C4D) surgery and 24 h after (C3A C4A) gave these results: C3B 1.140 g l1 C4B 0.3 g l1; C3D 0.816 g l1 C4D 0.243 g l1; C3A 0.968 g l1 C4A 0.293 g l1 (normal value C3 0.9 to 1.8 g l1; C4D 0.1 to 0.4 g l1) (Fig. 1). PNH has three clinical manifestations: haemolysis with haemoglobinuria; thrombosis; and bone marrow failure,4 Mutation of MTHFR, an important enzyme for homocysteine metabolism, is associated with a mildly increased plasma homocysteine concentration and decreased levels of folate in serum/plasma/red blood cells.8 MTHFR and elevated homocysteine levels are associated with thrombosis, coronary artery disease and DOI:10.1097/EJA.0b013e32835fe4be

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Correspondence

Table 1

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Main laboratory findings of our patient

White blood cell counts (n.v. 4.8–10.8 T 103 mlS1) Red blood cell counts (n.v. 3.9–5.6 T 106 mlS1) Haemoglobin (n.v 12–17 g lS1) Haematocrit (n.v. 35–58%) Platelets (n.v. 130–400 T 103 mlS1) Total protein (n.v. 6.5–8.2 g lS1) Albumin (n.v. 3.6–5.2 g lS1) AST (n.v.

Anaesthesia and orphan disease: failed airway management in a case of Smith-McCort Dysplasia.

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