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A 17-year-old male with generalized weakness and loose motion

DR. SHARMIN EASMIN

PHASE-B RESIDENT

RED UNIT

HAEMATOLOGY DEPARTMENT

BSMMU

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Objective

.

Vitamin B12 absorption & metabolism

Evaluation & management of megaloblastic anaemia

Monitoring of treatment response of Megaloblastic anaemia

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Case summary

Nazmul, a 17-year-old student,unmarried,normotensive,non-diabetic,hailing from Narsingdi admitted with complaints of

  • Generalized weakness for 6 months
  • Recurrent mouth ulcer and Soreness of tongue for 1 year
  • Frequent loose motion for 4 year

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Generalized weakness

  • Severe weakness and occasional dizziness
  • Difficult to perform regular daily activities

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Oral ulcer

  • Recurrent painful mouth ulcer
  • Soreness of tongue
  • Painful angular ulcer

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Loose motion

  • Occasional loose motion, 4 to 6 times daily
  • Oily, greezy, floating on pan, difficult to wash out
  • Often mixed with mucus, but not blood
  • Sense of incomplete evacuation of bowel and occasional abdominal pain
  • It’s not related to any food or drug

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  • He also complaints of
  • loss of appetite and significant weight loss
  • History of taking 20 unit of blood transfusion during this period.

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�There is no history of �

  • Fever
  • Skin rash
  • Cough
  • Bleeding manifestation
  • Any perianal pain
  • Joint pain
  • Contact with TB patient or TB
  • H/O no drug or dietary restriction
  • Family history

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On general examination

  • The patient is emaciated and ill looking
  • Severely anaemic
  • No jaundice,cyanosis,clubbing,koilonychias,leukonychia,dehydration,oedema
  • No lymphadenopathy or no thyromegaly
  • Pulse : 110 beat/min
  • BP: 100/60 mmHg
  • Temperature: 980F
  • Respiratory rate : 20 breath/ min.

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Systemic examination

  • Gastrointestinal system:
  • Lips - swelling
  • Tongue - smooth ,loss of papillae, raw bee tongue.
  • Oral cavity – few ulcer in the inner part of cheek ( aphthous ulcer )
  • Painful angular stomatitis

Abdomen

  • No abnormalities

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Examination of the other systems reveals no abnormalities

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Haematological parameter

Complete blood count

10/11/2022

13/11/2022

17/11/2022

Hb

8.2 g/dl

9.2 g/dl

8.1

Total RBC

3.00 X 10^12/L

3.4 X 10^12/L

2.9.0 X10^12/L

Total WBC

2.0 X 10^12/L

2.5 X 10^12/L

6.0 X 10^12/L

Total platelet

30 X 10^12/L

25 X 10^12/L

72.0 X 10^12/L

MCV

83 fL

82 fL

84.7 fL

MCH

27.3 pg

27 pg

27.6 pg

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Peripheral blood film

13/11/2022

  • RBC – Dimorphic.
  • WBC – Reduced with hypersegmented neutrophil.
  • Platelet – Reduced

  • Comment: Pancytopenia

  • Reticulocyte count -0.19%

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25/05/2022

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13/11/2022

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Coagulation profile

Prothrombin time

13 seconds

APTT

30 seconds

Fibrinogen

322.90 mg/L

D - dimer

2.2 µg/ml

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Other :

  • Serum Vitamin B12 – 158 pg/ml
  • Serum folate - > 20.0 ng/ml
  • Serum iron -28 µg/dl
  • Ferritin – 1074.99 ng/ml
  • TIBC – 194 µg/dl
  • T SAT – 14 %
  • LDH -1291 U/L ( after treatment 311 U/L )
  • Coombs test direct & indirect – Negative
  • TSH,T3,T4 - normal

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Cont….

  • Serum electrolyte – Na+ : 143 mmol/L, K+ – 3.7 mmol/L
  • Serum creatinine – 0.9
  • Serum calcium – 8.8 mg/dl
  • Magnesium – 1.2 mmol/L
  • Serum bilirubin total & direct – 2.7 mg/dl & 0.98 mg/dl
  • SGPT- 11U/L
  • SGOT - 12U/L
  • Fasting blood sugar – 4.21 mmol/L

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Cont….

  • Stool OBT – positive
  • Faecal fat – negative
  • Urine R/M/E – normal
  • USG of whole abdomen – mild splenomegaly
  • PCR for Covid-19 – negative
  • Serum Antibody screening ( Ab to IF & Ab to parietal,gastrin receptor)

- Not done

  • MMA & homocysteine level – not done
  • Faecal calprotectin – not done

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GeneXpert for detection of Mycobacterium tuberculosis ( 01/12/2022 )

  • Type of specimen – Ileal ulcer

  • Result – not detected

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Before treatment

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My provisional diagnosis is Megaloblastic anaemias

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Treatment

  • Considering his age, clinical symptoms & sign
  • On the basis of investigation report he was treated with –
  • Injection cyanocobalamin 1 mg weekly for 6 weeks

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After treatment

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After treatment ( 27/11/2022 )

CBC

27/11/2022

Hb

11.2 gm/dl

Total RBC

4.2 X10^12/L

Total WBC

12.5 X10^12/L

Total platelet

400 X10^12/L

MCV

90.5 fL

MCH

28 pg

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After treatment ( 27/11/2022 )

Peripheral blood film :

  • RBC – normocytic normochromic
  • WBC – normal in count
  • Platelet – normal

  • Comment: normocytic normochromic anaemia

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Evaluation, metabolism, treatment and monitoring after treatment

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EVALUATION

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Davidson’s 24th

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Peripheral blood film

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Bone marrow

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Absorption

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Metabolism

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Mechanism of neurological menifestation

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Treatment of megaloblastic anaemia

  • Specific management:
  • 6 dose 1mg Hydroxocobalamin / cyanocobalamin – weekly

According to up to date management

  • 6 dose 1mg Hydroxocobalamin/ cyanocobalamin at 3 days interval

followed by

  • 1 mg I/M 3 monthly interval ( Hoffbrand 7th edition )

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Cont ….

  • General management :

  • Severely ill – hospitalization
  • Blood transfusion – usually unnecessary
  • Exchange transfusion – if severe anaemia & Heart failure
  • Platelet transfusion – spontaneous bleeding

(severe thrombocytopenia)

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Monitoring after treatment

  • LDH and Indirect bilirubin ( marker of haemolysis ) –

decline within fisrt 1-2 days

  • Reticulocyte count – Increased with in 3-4 days

  • Haemoglobin & haematocrit – improve at 1-2 weeks

normalized within 4-6 weeks

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Cont…

  • Hypersegmented neutrophils – disappear with in 2 weeks

  • Leukopenia &/or thrombocytopenia – resolve within 2-4 weeks

  • Hypokalemia – initial 1st week

  • Serum vitamin B12 & folate – level increases into normal range

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    •  Most patients are treated with cobalamin .

    • Dietary, life style modification & vitamin B12 supplementation is important.

    • Megaloblastic anemias develop gradually,

many patients adjust to low hemoglobin levels and do not require transfusions.

Take home massage

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Let our New Years resolution be this:

We will be there for one another as fellow members of humanity,

in the finest sense of the word..

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Thank you