Breitenstein, Alexander

Goede, Jeroen

Kühne, Reto

Marek, Aleksandra

Minder, Elisabeth

Renner, Christoph

Schanz, Urs

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LETTER TO THE EDITORAbdominal pain in a patient with acutelymphoblastic leukaemiaAlexander Breitenstein & Reto Kühne &Elisabeth I. Minder & Aleksandra Marek &Jeroen Goede & Urs Schanz & Christoph RennerReceived: 24 June 2009 /Accepted: 26 June 2009 /Published online: 9 July 2009# Springer-Verlag 2009Dear Editor,A 57-year-old man was admitted to our hospital with acutelower abdominal pain and diarrhoea. The patient had beendiagnosed with a CD20 and bcr-abl positive B-cell acutelymphoblastic leukaemia 15 months ago and was treatedwith four cycles rituximab-Hyper-CVAD. He was healthywith a complete molecular remission at his last routineexamination 4 weeks ago.A CT scan of the abdomen revealed colitis of the colondescendens with perifocal oedema. Antibacterial therapywith piperazillin/tazobactam was initiated resulting in anormalisation of the initially elevated inflammatory bloodmarkers. In contrast, the abdominal pain worsened althoughthe analgesic therapy was substantially intensified. Due toincreased pain, the patient’s oral food intake was poor.Additionally, he developed tachycardia, hypertension aswell as episodes with aggressiveness and loss of orienta-tion. Further investigations, including extensive blood andbacterial stool analysis as well as a gastro- and colono-scopy, were unremarkable except for the urine, whichturned from a clear yellow to a dark red colour (Fig. 1),highly suggestive for an acute porphyria. Indeed, increasedlevels of δ-aminolevulinic acid and porphobilinogen werefound in the urine. All porphyrinogenic drugs were halted,an adequate caloric intake was guaranteed by nasogastricfeeding and the patient was treated with exogenous heme-arginate for 4 days. The patient recovered completely fromhis symptoms within a few days and was discharged after2 weeks of hospitalisation. A molecular analysis waspositive for the presence of the W283X-mutation in theporphobilinogen deaminase gene, a common mutation inSwiss residents with acute intermittent porphyria (AIP). Hewas completely asymptomatic when last seen in April 2009.AIP is an autosomal-dominant inherited disease of theheme biosynthetic pathway with a prevalence of symptom-atic disease of one to two per 100,000 [1]. In AIP, theactivity of the porphobilinogen deaminase (PBG) isreduced, resulting in an accumulation of upstream porphy-rin precursors δ-aminolevulinic acid and porphobilinogen.At the moment, over 250 mutations in the PBG gene areknown. Nearly 60% of all Swiss patients with an AIP carrythe nonsense mutation W283X [2]. The majority of themutation carriers are clinically healthy and exhibit symp-toms only in situations when precipitating factors arepresent [3]. These include various drugs, poor energyintake during fasting as well as stress from illness andfever. Under these circumstances, the heme biosyntheticpathway gets activated and results in an excess accumula-tion of the porphyrin precursors δ-aminolevulinic acid andporphobilinogen due to the PGB enzyme deficiency. Thekey issues for acute therapy are to avoid drugs known to beporphyrinogenic, to promptly treat infections and tomaintain an adequate caloric intake. Furthermore, intrave-nous heme derivates supporting the increased heme demandare the most effective treatment modalities for acuteporphyria attacks [4].A. Breitenstein (*)Department of Internal Medicine, University Hospital Zurich,Rämistrasse 100,8091 Zurich, Switzerlande-mail: alexander.breitenstein@usz.chR. Kühne :A. Marek : J. Goede :U. Schanz :C. RennerHematology Department, University Hospital Zurich,Zurich, SwitzerlandE. I. MinderZentrallabor, Stadtspital Triemli,Zurich, SwitzerlandAnn Hematol (2010) 89:211–212DOI 10.1007/s00277-009-0789-4It is interesting to realise that this patient was treated byan intensive chemotherapy regimen without the develop-ment of any symptoms. Currently, he is under maintenancetreatment with dasatinib, a novel bcr-abl tyrosine kinaseinhibitor, from which it is not yet known if it is tolerated bypatients with acute porphyria.Acknowledgements This case report was not supported by anyfunding source. The authors report no conflicts of interest. All authorscontributed equally to this work.References1. Badminton MN, Elder GH (2002) Management of acute andcutaneous porphyrias. Int J Clin Pract 56:272–2782. Schneider-Yin X, Bogard C, Rufenacht UB, Puy H, Nordmann Y,Minder EI, Deybach J (2000) Identification of a prevalent nonsensemutation (W283X) and two novel mutations in the porphobilinogendeaminase gene of Swiss patients with acute intermittent porphyria.Hum Hered 50:247–2503. Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, PierachCA, Pimstone NR, Desnick RJ (2005) Recommendations for thediagnosis and treatment of the acute porphyrias. Ann Intern Med142:439–4504. Bonkovsky HL, Healey JF, Lourie AN, Gerron GG (1991)Intravenous heme-albumin in acute intermittent porphyria: evi-dence for repletion of hepatic hemoproteins and regulatory hemepools. Am J Gastroenterol 86:1050–1056Fig. 1 The patient’s red urine during the acute attack212 Ann Hematol (2010) 89:211–212

Abdominal pain in a patient with acute lymphoblastic leukaemia

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Abdominal pain in a patient with acute lymphoblastic leukaemia

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