1 CASE REPORT hematology Monika Csóka MD, PhD

2 16 year old boy no abnormalities in previous anamnesis 2 weeks before viral infection (fever, coughing) 1 day before petechias, bruises, hematomas on skin and oral mucosal membranes he was presented in hematology outpatient dept.

3 ? Trombocytopenia, thrombocytopathia Vasculopathia leukemia Clinical data Laboratory values

4 Clinical data Lymphnodes Liver Spleen Testes Leukemic infiltration in skin, gingiva Neurological signs

5 Lab. Blood count LDH Peripheral blood smear

6

7 lab LDH 1600 U/l CRP 34 mg/l GPT 29 U/l GGT 71 U/l Kreatinin 110 umol/l Uric acid 202 umol/l Smear: thrombocytopenia, no other abnormalities

8 ITP ? Bone marrow aspiration not obligatory But obligatory if corticosteroid treatment is planned First line treatment: IVIG or corticosteroid (effectivity, side effects, price)

9 Next step 16 years 70 kg Planned treatment: corticosteroid Diagnostics: bone marrow aspiration

10 Surprise!!! Bone marrow smear: 70% lymphoblast CD10+, CD19+, CD20+ Dg: ALL

11 ALL Most common malignancy (33%) ALL 75% AML20% CML (CLL)5%

12 Clinical signs Fever Anaemia Bleeding Lymphadenopathia Hepatosplenomegalia Bone pain

13 Diagnosis Blood count, smear, lab Bone marrow LP

14 Lab Anemia Thrombocytopenia WBC (    ) Blasts in peripheral blood smear LDH  Uric acid

15 Survival EFS5 years78,6% SR96,1% MR77,9% HR40,8%

Thrombocytopenia Thrombocytopenia is defined as a platelet count of < 150,000/ μL Due to: – Increased destruction – Sequestration – Decreased production

Thrombocytopenia Systematic approach to evaluating patients: – History (associated illness, drugs, specific symptoms) – Physical exam (anomalies, hepatosplenomegaly, infection, tumor, lymphadenopathy, bleeding) – Careful interpretation of the complete blood count and examination of peripheral blood smear If diagnosis not made or corticosteroid is planned consider bone marrow examination

Case 2

14 year old female presented with complaints of: – Easy bruising x 1 month – Heavy menses – 1-2 episodes of fever in the past month – 2 days of cervical lymphadenopathy (resolved) – Occasional night sweats – No weight loss

Case 2 Initial laboratory findings: – WBC: 3.15 x 1000/μL (4.5 – 11.0) – RBC: 3.26 M/μL (4.6 – 6.2) – Plt: 3.16 x 1000/μL (150 – 400) – Hgb: 8.80 g/dL (14.5 – 18.1) – Hct: 26.7% (42 – 54) – MCV: 81.8 fL (80 – 100) – MCH: 27.0 pg (28 – 34) – RDW: 16.1% (11.5 – 14.5) – Abs Neutrophil: 1.63 x 1000/μL (1.8 – 7.8)

Case 2 Differential diagnosis of pancytopenia with severe thrombocytopenia: – Marrow infiltrative process (leukemia, aplastic anaemia) – Immune Thrombocytopenic Purpura (ITP) Why the neutropenia and anemia? Next step, bone marrow biopsy.

Case 2 Diagnosis: ITP Iron deficiency anemia, secondary to menometrorrhagia from low platelets Benign neutropenia

Case 2 Patient received steroids, IVIG x1 – 1 week following, repeat CBC with a platelet count of 35

ITP Epidemiology of ITP: Onset typically children 2-4 years

ITP Differential diagnosis: – Diagnosis of exclusion, need to exclude drug-induced thrombocytopenia – Familial thrombocytopenia Check family history of low platelets unresponsive to treatment for ITP – Thrombotic thrombocytopenic purpura (TTP) – Spurious thrombocytopenia resulting from platelet clumping Always look at the peripheral smear of a patient with thrombocytopenia

ITP Mechanism: – Patients platelets are coated with IgG antibodies. Tissue macrophages recognize the Fc receptor, and phagocytose. – May also have reduced megakaryocyte production.

ITP Diagnosis: Diagnosis of exclusion Should exclude other causes of thrombocytopenia Review the peripheral smear Bone marrow examination if atypical, if corticosteroid treatment is planned Detection of anti-platelet antibodies (49-66% sensitive (not obligatory)

ITP Treatment: IVIG Steroids Azathioprin (Imuran) Splenectomy if refractory to treatment TPO mimetics (p.o., s.c.) Anti-D (????)

ITP Goal of treatment AVOID LIFE THREATENING BLEEDING 29

The End