AN INTERESTING CASE OF ANEMIA WITH AN UNEXPECTED TWIST. Dr SUDHEER
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1 AN INTERESTING CASE OF ANEMIA WITH AN UNEXPECTED TWIST Dr SUDHEER
2 A 53 yrs old female PRESENTED WITH - Sudden onset of Loss of consciousness at 10 pm in night : - lasting for 5 minutes - sustained head injury - not associated with jerky movements of limbs or tongue bite. - no bowel or bladder incontinence. - no chest pain, palpitations. - no vertigo, tinnitus, vomiting.
3 H/O Breathlessness on exertion for last 5 months : - Insidious, gradual progressive - relieves with rest - associated with easy fatiguability - not associated with chest pain H/O low back pain for 3 months. H/0 weight loss in last 2 months.
4 PAST HISTORY : - Jaundice : 2 episodes First : At 20 yrs, details not known Second: At 30 yrs, took treatment local doctor, details not available. - No similar complaints in past - No Blood transfusions in past - No Diabetes, hypertension, tuberculosis, IHD or RHD in past.
5 PERSONAL HISTORY : - Mixed diet - No addictive habits - Bladder and Bowel: regular - No high risk behaviour FAMILY HISTORY : - H/O anemia present in her elder sister. - details of her parents not known.
6 MENSTRUAL HISTORY : - Menarche : 13 years - Menopause : 45 years OBSTRETIC HISTORY : - P1L1A2 - H/O two consecutive abortions TREATMENT HISTORY : - Nothing significant
7 General Physical Examination : - Afebrile - Pulse : 104 bpm, Regular - BP : 100/70 mm Hg - R/R : 19 breaths / minute - Pallor Present - Icterus Present - no cyanosis, no oedema, no Lymphadenopathy - no s/o hepatocellular failure
8 SYSTEMIC EXAMINATION : 1) PER ABDOMEN : - soft, non tender, No fluid - Moderate splenomegaly (5 cm below the sub costal margin) - No hepatomegaly - Bowel sounds present 2) CVS : - S1, S2 heard - Grade 2 ESM in Aortic area 3) CNS : NAD 4) R/S : NAD
9 PROVISIONAL DIAGNOSIS 1) CHRONIC HEMOLYSIS 2) CIRRHOSIS WITH PORTAL HTN
10 Patient was admitted - Patient was stabilised with fluids. - CT Scan Brain (P) : Normal. - ECG : Sinus tachycardia. - CK-MB: 4.0 U/L. - TROP-T: Negative. - Blood samples collected - Arranged for Blood transfusions.
11 ROUTINE BIOCHEMISTRY : 1) Hb : 4.2 gm/dl 2) TC : 2,500 cells 3) DLC : - N : 53 % - L : 36 % - E : 3 % - M : 8 % 4) PLATELET : 90,000 cells 5) PCV : 13.0 % 6) ESR : 62 mm/hr BLOOD INVESTIGATIONS IMP : PANCYTOPENIA
12 7) RFT : Normal 8) RBS : 125 mg/dl 9) INR : 1.3 sec. 10) CRP : 2.9 mg/l 11) RA factor : 4 IU/mL 12) Vitamin B12: 512 pg/ml 13) Serum Folic acid : 12 ng/ml
13 14) Reticulocyte : 5 % 15) LDH : 510 U/L 16) LFT : - T.BIL : 3.3 mg/dl - D.BIL : 0.9 mg/dl - T. Protein : 6.7gm/100 ml - Albumin : 3.7 gm/ 100 ml - Globulin : 3.0 gm/100 ml - ALP : 196 U/L - SGOT : 44 U/L - SGPT : 48 U/L 17) STOOL OCCULT BLOOD : Negative IMP : HEMOLYTIC ANEMIA
14 ? EXTRA VASCULAR VS INTRAVASCULAR URINALYSIS : - Urine colour : Turbid - Urine protein : Absent - Urine RBC : Absent - Urine Benzadine test for Blood: Negative Serum haptoglobin : 52 mg/dl ( Normal ).
15 PERIPHERAL SMEAR RBC INDICES : - MCV : 73 fl - MCHC : 34.4 g/dl - MCH : 23 pg /cell - RDW : 18.7 ANEMIA TYPING : - Microcytic Normochromic Anaemia - Target cells present predominantly. - Elliptocytes, spherocytes present
16 SERUM IRON PROFILE : - SERUM IRON : 65 mcg/dl ( mcg/dl) - TIBC : 252 mcg/dl ( mcg/dl) - SERUM FERRITIN : ng/ml ( ng/ml) - SERUM TRANSFERRIN : 21 % ( % )
17 OTHER INVESTIGATIONS USG ABDOMEN : - Splenomegaly. - LIVER : Normal echo texture. HCV Antibodies : Negative HBsAg : Negative HAV & HEV : Negative Brucella & Leptospira Antibodies : Negative HIV 1 & 2 Antibodies : Negative Upper GI Endoscopy : Normal mucosal study 2D ECHO : Normal
18 IMPRESSION - Splenomegaly with Pancytopenia. - IN ABSENCE OF : HEMOGLOBINURIA & HEMOGLOBINEMIA - Reticulocytosis. - Indirect hyperbilrubinemia. - Microcytic Normochromic Anemia. - Normal serum haptoglobin. = EXTRA VASCULAR HEMOLYTIC ANEMIA WITH HYPERSPLENISM.
19 DIFFERENTIAL DIAGNOSIS? HEMOGLOBINOPATHIES? AUTO IMMUNE HEMOLYTIC ANEMIAS
20 INVESTIGATED FURTHER - Coombs test (direct and indirect) : Negative - Flow cytometry for PNH : Negative - ANA PROFILE : Negative - Urine Bence Jones proteins: Negative
21 Hb ELECTROPHORESIS - Haemoglobin Adult (Blood/HPLC) : 13.5 % - Haemoglobin E (Blood/HPLC) : 83.1 % - Haemoglobin F (Blood/HPLC) : 5 % IMP : HPLC PATTERN SUGGESTIVE OF HOMOZYGOUS HbE
22 FAMILY HISTORY REVISED (details not known) 63 yrs 53 yrs 29 yrs two abortions
23 DIAGNOSIS HbE DISEASE (HOMOZYGOUS)
24 COURSE IN HOSPITAL - Patient was given 3 units of Blood transfusions. - Hb improved to 10 gm/dl during hospital stay. - As patient had refused bone marrow biopsy, patient was discharged with folic acid 5 mg and advised strict follow up.
25 FOLLOW UP - Patient had come 3 times in next two months with recurrent anemia. - Convinced her for bone marrow biopsy. - Planned for splenectomy.
26 BONE MARROW GIVEN AN UNEXPECTED TWIST
27 BONE MARROW ASPIRATION : No clue BONE MARROW BIOPSY(TREPHINE): - Hyper cellular marrow - Lymphocytes predominantly
28 IMMUNO HISTOCHEMISTRY: - CD3 expressing small lymphocytes with large atypical mononuclear cells. - Large cells : Pax 5 & CD In situ hybridisation: EBERs is negative. IMP : SUGGESTED HODGKINS LYMPHOMA
29 IMAGINGS CT ABDOMEN AND PELVIS: - Only splenomegaly - No lymphadenopathy CT CHEST : Normal PET CT SCAN : Increased FDG concentrations : - Skeletal marrow lesions SUV: 15.4
30 - 53 years old female SUMMARY - Presented with pancytopenia, jaundice, hypersplenism and extra vascular haemolysis. - Family history of HbE disease. - HPLC showing HbE hemoglobinopathy. - Bone Marrow Biopsy : CD 30 and Pax 5 positive atypical lymphocytes. - PET CT SCAN: Extensive ground glass metabolically active marrow skeletal lesions with out extra osseous soft tissue involvement.
31 FINAL DIAGNOSIS HbE HEMOGLOBINOPATHY PRIMARY OSSEOUS HODGKINS LYMPHOMA
32 TREATMENT - Planned for chemotherapy initially. - Currently patient is undergoing first cycle of ABVD regimen.
33 AIM OF PRESENTATION - HbE disease with Hodgkin's lymphoma very rare presentation. - Primary osseous Hodgkin's lymphoma is extremely rare presentation. - Atypical presentations.
34 Hemoglobin E disease: DISCUSSION - Most common abnormal hemoglobinopathy in south east Asia and northern India. - HbE is a thalassemic hemoglobinopathy. - Nucleotide substitution of G to A at codon 26 of beta gene. - HbE syndromes can be divided into asymptomatic and symptomatic forms.
35 Symptomatic forms : - HbE with beta thalassemias. - HbE with HbH disease. - HbE with Hb constant spring. Clinical features: - Anemia - Splenomegaly - Allo and auto immune hemolytic anemias Treatment : - Folic acid - Blood transfusions.
36 HODGKINS LYMPHOMA - Hodgkin's lymphoma is a lymphoproliferative malignancy that accounts for only 1 % of newly diagnosed malignancies. - CLASSIFICATION : - CLASSICAL HODGKINS: 1) Lymphocyte predominance 2) Nodular sclerosis 3)Mixed cellularity 4)Lymphocyte depletion - LYMPHOCYTE RICH
37 SITES AFFECTED : - MC : Lymph nodes - Mediastinum, spleen. EXTRA NODAL SITES : - Lung, liver, bone marrow - CNS, Testis Rare
38 PRIMARY OSSEOUS HODGKINS LYMPHOMA - Hodgkin's disease involving bone and bone marrow is uncommon. - Most of bone marrow lymphomas are NHL, but in rare cases they are Hodgkin's. - Patients with osseous HD presents with bone pain, fever and weight loss. - Most common site : Axial and proximal appendicular skeleton. - Diagnosis is established by bone marrow aspiration and biopsy findings.
39 - Diagnosis requires demonstration of RS cells and/or its variants expressing CD 30, CD 15 and CD 45 negative. - TREATMENT: - Chemo radio therapy.
40 CASE REPORTS 1) A rare case of Beta Thalassemia Intermedia with Hodgkin's Lymphoma in American Journal of Haematology in Feb ) A case report of Primary Bone Marrow Hodgkin's published in Sahel Medical Journal in June )Isolated Bone Marrow occurrence of Classical Hodgkin's in an HIV- negative patients in heamatologica Journal 2006.
41 REFERENCES - WINTROBES CLINICAL HEMATOLOGY - HARRISONS PRINCIPLES OF MEDICINE - de Gruchy's CLINICAL HEMATOLOGY - SPRINGER'S HEMATOLOGY
42 Dr DEEPA K H (COMS) MY PROFESSORS Dr G PRADHAN (HOD). Dr SANTOSHI MALKARNEKAR. Dr SHILPA & Dr SHABNAM ROOI ( PATHOLOGISTS ).
43 THANK YOU
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