SEVERE HYPERHOMOCYSTEINEMIA IN A PATIENT WITH

CHRONIC KIDNEY DISEASE, VITAMIN B12 DEFICIENCY

AND SPONTANEOUS ERYTHROCYTOSIS1 E. GAVRIILAKI, 2 E. PASCHOU, 3 M. GALANI, 3 A. PAVLIS, 1 A.

KALAITZOGLOU, 4 G. PAPAIOANNOU, 5 N. SABANIS

1 Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece2 Department of General Practice & Family Medicine, General Hospital of

Pella, Edessa, Greece3 Department of Internal Medicine, General Hospital of Pella, Edessa, Greece

4 Hematology Department and Hematopoietic Cell Transplantation (HCT) Unit,

G. Papanikolaou Hospital, Thessaloniki, Greece5 Department of Nephrology, General Hospital of Pella, Edessa, Greece

CASE REPORT

76 years-old, non-smoker male patient right leg: superficial vein thrombosis

(pain, swelling, warmth, and erythema along the course of the great saphenous vein)

BP:128/70 mmHg heart rate 72/min temperature 36.8 oC SpO2 98%.

Medical History: hypertension (quinalapril 20 mg/d)T2DM (metformin 850/d, vildagliptin 50 mg/d)

Laboratory Examinations:

U/S: superficial vein thrombosis

(great right saphenous vein)

Laboratory Examination

Hb (g/dl) 17.6

Hct (%) 52.1

RBC (x106/μL) 4.85

MCV (fL) 105

PLT (x103/μL) 305

ESR (mm/h) 24

Creatinine (mg/dl) 2.71

SGOT / SGPT (mg/dl) 14/16

LDH (U/l) 189

Ca +2(mg/dl) 10

Κ+ (mmol/L) 4.1

Νa+ (mmol/L) 138

ERYTHROCYTOSIS

Macrocytosis

renal failure(GFR 28 ml/min)

Renal u/s & abdominal CT: bilateral renal cysts and reduced kidney size

Gastrointestinal endoscopy: atrophic gastritis + H.pylori infection, APCA(+)

B12 = 107 (nr 200-

900pg/mL

Brain CT: leukoencephalopathy

Thorax CT: calcification of coronary arteries

Tumor markers (CEA, aFP, PSA, Ca15.5, Ca 19.9) normal

Thyroid hormones normal(TSH, T3, T4, FT3, FT4)

gas study: normal

thrombophilia testing

PT (sec) 106 ANA -

APTT (sec) 29,6 ACA -

INR 0,87 β2 GPI -

Fibrinogen (g/L)

3,7 MTHFR mutation -

PROT C (%) 100 PROT S (%) 92

AT III (%) 92 V LEIDEN -

Homocysteine = 89,6 (nr 3,5-20mmol/L)

Bone marrow smear = normal

JAK2 gene:V617F mutation (-)

Polycythemia Vera excluded

DIAGNOSIS: Superficial vein thrombosis due to severe hyperomocysteinemia

accordingly to B12 deficiency in a patient with CKD

TREATMENT:Symptomatic treatment

LWMH injection (therapeutic dosage) for 6 monthsAlteration of antihypertensive and antidiabetic therapy

B12 injection

EPO = 13,28 (nr 4-27)

hyperhomocysteinemia

B12 deficiency

CKD

metformin

Atrophicgastritis

TROMBOSIS/ CVD