The authors describe a 19 year old male with an isolated but absolute erythrocytosis with iron deficiency without evidence
for polycythemia vera as well as another causes of erythrocytosis. The polycythemia was due to a recently described
von Hippel-Lindau (VHL) mutation. By stopping iron therapy there was no more requirements for phlebotomy in this patient

Marina Mataija

Renata Vrsalović

Tomislav F. Hajnžić

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Coll. Antropol. 30 (2006) 1: 221–223Case reportClinical Presentation of a Patient withCongenital PolycythemiaTomislav F. Hajn`i}, Renata Vrsalovi} and Marina MataijaDepartment of Pediatrics, Hematology Oncology Unit, University Hospital »Sestre Milosrdnice«, Zagreb, CroatiaA B S T R A C TThe authors describe a 19 year old male with an isolated but absolute erythrocytosis with iron deficiency without evi-dence for polycythemia vera as well as another causes of erythrocytosis. The polycythemia was due to a recently describedvon Hippel-Lindau (VHL) mutation. By stopping iron therapy there was no more requirements for phlebotomy in this pa-tient.Key words: congenital polycythemia, phlebotomy, iron deficiency, iron supplementationIntroductionAbsolute polycythemia or erythrocytosis is a condi-tion with increased red blood cell mass, and it can be ei-ther acquired or congenital. These hematological disor-ders are divided into primary where the erythropoieticcompartment is intrinsically abnormal, and secondarywhere the erythropoietic compartment is normal but isresponding to pathologic events outside the bone mar-row, leading to an increased erythropoietin drive. Bothprimary and secondary polycythemias may be either con-genital or acquired1. Polycythemia is rarely seen in child-ren2,3.Case ReportA 12-year-old white boy was admitted in June 1997for erythrocytosis, which was detected incidentally dur-ing an emergency room visit for a febrile illness andheadache. Prior medical history was unremarkable. Thepatient had not traveled to high altitudes. There was nofamily history of hematologic disease. On examinationthe boy was in a very good general condition with facialand conjunctival plethora, all other clinical findings werewithin normal limits, blood pressure 110/80 mmHg. Hewas without pruritus, tinnitus, or vertigo. Hemogram:erythrocytes (E) 9.02x1012/L, hemoglobin (Hgb) 196 g/L,hematocrit (Hct) 0.65; MCV (mean corpuscular volume)78 fL, MCHC (mean corpuscular hemoglobin concentra-tion) 269 g/L. White blood cell and platelet counts werenormal. Determination of the volume of erythrocytes byCr-51 sodium chromate: 53.3 ml/kg (N 35 ml/kg). Allcauses of secondary polycythemia were eliminated by ap-propriate investigations. Vitamin B12 and folic acid inserum were within normal limits. Serum iron (Fe) levelwas low, 8.5 µmol/L (normal range: 9.5–29.8 µmol/L),UIBC 78.1 µmol/L, TIBC 86.6 µmol/L, ferritin 11 µg/L (N15–332 µg/L). SaO2 96% (pulse oxymeter). 2,3-diphos-phoglycerate 5.7 mmol/l (N <5.5 mmol/L). Serum eryth-ropoietin levels were from 23.2 to max. 72 mU/mL.Erythropoietin level after phlebotomy was 55 mU/mL.Tests of coagulation and platelet function were betweenreferent values. Bone marrow cytology and histologywere normal. Serum level of 2,3-diphosphoglycerate wasnormal, and so was hemoglobin electrophoresis. Abdomi-nal ultrasound, CT scan of the abdomen and brain aswell as isotopic renogram were within normal limits.Family members (parents and sister) had normal redblood counts.As already recently reported, DNA analysis showedhomozygosity for 571CG (H191D) von Hippel-Lindautumor-suppressor gene (VHL) mutation, the first exam-ple of homozygous VHL germline mutation causing poly-cythemia other than the VHL 598CT mutation4.During clinical observation the patient had no signifi-cant medical problem. He reported headaches and concen-tration difficulties when his hematocrit was high (Hct0.60, Hgb200 g/L, E9.0x1012/L), and these symptomswere immediately relieved by isovolemic phlebotomy.Because of the slightly decreased values of serum ironand ferritin the patient was administered iron supple-221Received for publication February 18, 2005mentation therapy and aspirin. He had normal gastroin-testinal iron absorption as well as intestinal permeabilitytesting.During the next 12 months phlebotomy was requiredon seven occasions. On iron supplementation, his serumiron concentration increased, ranging between 6.1 and17 µmol/L.At one year, his hematology findings were found tohave considerably improved. Hct levels were 0.51–0.56and Hgb concentration 144–159 g/L, while serum ironconcentration decreased to 2.3–4.9 µmol/L and ferritin to1.8–5 ng/L (Figure 1). The reticulocytes count in thattime was up to 0,020. The patient admitted he had dis-continued iron supplementation and made decision to re-duce intake of iron by food, so he started diet without an-imal protein and iron rich vegetables. We realized soonthat hematocrit would not reach high values to requirephlebotomy anymore. Over the next four years, the pa-tient did not take iron supplementation. After with-drawal of iron supplementation, his Hct value was 0.58on a single occasion. The high values of Hct (0.60– 0.68)that previously were regularly recorded have not beenobserved since; the boy is free from any medical problemand has not required new phlebotomy.When last seen in May 2004, his Hct was 0.52 and hehad no complaints, and still without impact on neurologi-cal or cognitive function. He is now 19 years old and asuccessful university student and active tennis player.His height is 180 cm, weight 69 kg, blood pressure 95/70mmHg, c/p 76/min.ConclusionWe present the patient with congenital polycythemiain whom the frequency of phlebotomy has been keptlower by obviating iron supplementation than when ironwas administered. We find that Swedish authors had asimilar outcome with patients with polycythemia vera5.Our outcome suggests that if iron supplementation isavoided, the frequency of phlebotomy can be kept lowerthan when iron is administered in patients with congeni-tal polycythemia.AcknowledgementsWe thank H. Gadner, MD, PhD and A. Zoubek, MD,PhD, St.-Anna-Kinderspital, Vienna, Austria and J. T.Prchal, MD, Baylor College of Medicine, Houston, TX,USA, for DNA analyses that revealed pVHL mutation.R E F E R E N C E S1. PEARSON, T. C., Baillieres Clin. Haematol., 11 (1998) 695. — 2.PRCHAL, J. T., Hematol. Oncol. Clin. North. Am., 17 (2003) 1151. — 3.MESSINEZY, M., T. C. PEARSON, Clin. Lab. Hematol., 21 (1999) 309. —4. PASTORE. Y., K. JEDLICKOVA, Y. GUAN, E. LIU, J. FAHNER, H.HASLE, J. F. PRCHAL, J. T. PRCHAL, Am. J. Hum. Genet., 73 (2003)412. — 5. BIRGEGARD, G., C. H. DE VERDIER, C. HOGMAN, Scand. J.Clin. Lab. Invest., 47 (1987) 593.T. F. Hajn`i} et al.: Patient with Congenital Polycythemia, Coll. Antropol. 30 (2006) 1: 221–2232220,400,450,500,550,600,650,701997VIIX X XII1998IVIVIIVIIIIX X XII IV XIXII2000IIIIV2001I2002V IX2003II IV VIIVIIIIX2004IDateHematocrit0510152025Feserummol/LµHct Fe serum mol/LµII1999Fig. 1. Correlation between hematocrit and serum iron in our patient. Phlebotomy is pointed with .T. F. Hajn`i}Department of Pediatrics, Hematology Oncology Unit, University Hospital »Sestre milosrdnice«, Vinogradska 29,10000 Zagreb, Croatiae-mail: tomislav-franjo.hajnzic@zg.htnet.hrKLINI^KI PRIKAZ PACIJENTA S KONGENITALNOM POLICITEMIJOMS A @ E T A KAutori prikazuju devetnaestogodi{njeg bolesnika, pra}enog unazad sedam godina, sa izoliranom apsolutnom eritro-citozom i sideropenijom u kojeg je isklju~ena policitemija vera kao i ostali uzroci eritrocitoze. Policitemija je posljedicanedavno opisane von Hippel-Lindau (VHL) mutacije. Prestankom terapije `eljezom prestala je potreba za flebotomijomkod ovog bolesnika.T. F. Hajn`i} et al.: Patient with Congenital Polycythemia, Coll. Antropol. 30 (2006) 1: 221–223223

Clinical Presentation of a Patient with Congenital Polycythemia

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