Pediatric polycytemia case presentation Dr Babak Abdolkarimi

Case presentation: The patient is a 8 years old boy with chronic polycytemia since… years ago. Ph/E: Headache( + ) dizziness(+ ) vertigo( + ) Weakness or malaise ( + ) Visual disturbances( - ) Tinnitus( - ) Diaphoresis( - ) Pruritus (especially after exposure to warm water)( - ) Erythromelalgia (burning pain, warmth, and redness of extremities) ( - ) Dyspnea( - ) Arthropathies(- ) Epigastric discomfort( - ) satiety, constipation ( - ) weight loss( - )

Ph/E Splenomegaly (- ) Skin plethora ( + ) Conjunctival plethora ( + ) Hepatomegaly ( - ) Systolic blood pressure >140 mm Hg ( - ) Diastolic blood pressure >90 mm Hg (- )

Secondary polycythemias: Hypoxemia causes: High EPO levels High-altitude erythrocytosis Pulmonary disease - Chronic obstructive pulmonary disease, diffuse pulmonary infiltrates, kyphoscoliosis, chronic cor pulmonale Cyanotic heart disease Hypoventilation syndromes - Obstructive sleep apnea EPO-secreting tumors - Renal cell carcinoma, hepatocellular carcinoma

Patient,s Paraclinic results: 1.Hb electrophoresis:Nl 2.ABG:without hypoxia 3.B12 Level:Nl 4.Ferritin:Low to Nl 5.TIBC:Nl 6.Transferin saturation:18% 7.PTT :high(2 times) 8.Renal Color Doppler sono

9.EPO level:high(48.1) 10.Abdominopelvic CT scan:Nl 11.P50 o2:? 12.Brain MRI:Nl BMA/B:Nl 12.2,3-DPG? 13.Hb-CO? 14.VHL GEN?

Patient management 1.periodic phlebotomy(every month) 2.ASA 3.Hydroxiurea 4.Iron supplement

2 M or 1M+2m

Clinical questions 1. 2,3-DPG?/Hb-CO?/VHL GEN? 2.compelet treatment ?life long medication & phlebotomy? 3.

Phlebotomy The goal of phlebotomy is to maintain normal red cell mass and blood volume, with a target hematocrit level of 42-46% for men and 39-42% for women. To reduce the thrombotic risk :ASA & Dipyridamole +phlebotomy. hemorrhage risk:phlebotomy +ASA/dipyridamole

Hydroxyurea Hydroxyurea used in high-risk patients with PV(age >60 y, history of thrombosis) who require cytoreductive therapy Cytoreductive therapy reduce the need for phlebotomy.(?) However, these patients also experience higher rates of malignancy.

Interferon Interferon-alpha is effective in eliminating J AK2V617Fexpression and inducing hematologic remission. Its use is limited by side effects, cost, and route of administration. The pegylated form and low dose treatment has decreased the rate of discontinuation of the drug secondary to side effects. treated with interferon alpha showed a high rate of hematologic and molecular response. 

Tyrosine kinase inhibitors Imatinib is a BCR-ABL tyrosine kinase inhibitor, which has been used in some patients with polycythemia vera. It has been shown to decreased blood counts, splenomegaly, & need for phlebotomy.  Ruxolitinib is a JAK1/JAK2 inhibitor patients with PV who were refractory to hydroxyurea therapy. reduction in hematocrit, thrombocytosis, leukocytosis, & splenomegaly

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