Case study on anemic syndrome including vitamin b 12 deficiency

It will give you information about anemic syndrome with investigation diagnosis treatment and follow up also

1. Case 2

2. 1. Patient Details and History Name: Mr. Saeed Khan Age: 46 years Gender: Male Occupation: Taxi driver Marital Status: Married Address: Almaty, Kazakhstan Date of Admission: 09 October 2025 Chief Complaints Weakness and fatigue for 4 months Tingling and numbness in both feet and hands for 2 months Loss of appetite and mild weight loss Difficulty walking and imbalance recently noticed

3. History of Present Illness Mr. Saeed reports progressive fatigue, easy tiredness, and shortness of breath on mild exertion for 4 months. Over the past 2 months, he developed tingling and numbness in feet and hands, along with unsteady gait (feeling as if he is walking on cotton).
He also noticed glossitis (painful red tongue) and loss of taste.
He denies any bleeding, black stools, vomiting, jaundice, or fever.
He complains of poor appetite, occasional heartburn, and abdominal discomfort.
There is no history of chronic disease, tuberculosis, or recent infection.
He has not taken any vitamin supplementation before.

4. Past Medical History No diabetes, hypertension, or thyroid disease.
No previous surgeries or transfusions.
No known drug allergies. Family History No family history of anemia or neuropathic disorders.
No history of malignancy.
Social and Dietary History
Diet: Strict vegetarian for 10 years (religious reasons).
Substance use: Non-smoker, no alcohol.
Socioeconomic: Moderate income, regular work.

5. | System | Findings |
| ---------------- | -------------------------------------------- |
| Cardiovascular | Fatigue, mild palpitations |
| Respiratory | Breathlessness on exertion |
| Gastrointestinal | Poor appetite, occasional dyspepsia |
| Nervous system | Tingling, numbness, imbalance, forgetfulness |
| Skin & mucosa | Pallor, sore tongue |
| Genitourinary | Normal |
| Endocrine | No symptoms |

6. Physical examination | Parameter | Findings |
| ----------------- | --------------- |
| Temperature | 36.9°C |
| Pulse | 96/min, regular |
| Blood Pressure | 110/70 mmHg |
| Respiratory Rate | 18/min |
| Oxygen Saturation | 99% (room air) |

7. General Examination Pallor: Present (marked conjunctival and palmar)
Icterus: Absent
Cyanosis: Absent
Clubbing/ edema : Absent
Lymphadenopathy: None Other findings : Glossitis : Smooth, beefy red tongue
Angular cheilitis : Present
Nails: Brittle
Neurological signs:
Decreased vibration and position sense in both lower limbs
Positive Romberg’s test
Unsteady gait (sensory ataxia)
Reflexes: knee and ankle reflexes decreased Systemic Examination: CVS: Soft systolic murmur (flow murmur)
Abdomen: No organomegaly Respiratory: Clear breath sounds

8. 3. Investigations and Results A full anemia workup and neurological assessment were conducted. Haematological test | Test | Result | Normal Range | Interpretation |
| ------------------ | ------------ | ------------------- | --------------------------------- |
| Hemoglobin | **6.9 g/dL** | 12–16 g/dL | Severe anemia |
| RBC count | 2.5 ×10⁶/µL | 4.5–5.5 ×10⁶/µL | Decreased |
| Hematocrit ( Hct ) | 22% | 36–48% | Decreased |
| MCV | **118 fL ** | 80–96 fL | Markedly increased ( macrocytosis ) |
| MCH | 34 pg | 27–32 pg | High |
| MCHC | Normal | — | — |
| Reticulocyte count | Low | 0.5–1.5% | Hypoproliferative |
| WBC | 3,800/mm³ | 4,000–10,000/mm³ | Mild leukopenia |
| Platelets | 120,000/mm³ | 150,000–400,000/mm³ | Mild thrombocytopenia |

9. . Peripheral Blood Smear Macro- ovalocytes (large oval RBCs) Hypersegmented neutrophils (>5 lobes)
Mild anisopoikilocytosis Interpretation: Megaloblastic picture suggestive of Vitamin B12 or folate deficiency. Bone Marrow Examination Hypercellular marrow Megaloblastic erythropoiesis
Giant metamyelocytes and band forms present
Conclusion: Megaloblastic bone marrow due to Vitamin B12 deficiency.

10. Biochemical test | Test | Result | Normal Range | Interpretation |
| -------------------- | ------------------- | ------------- | ------------------------ |
| Serum Vitamin B₁₂ | **92 pg /mL** | 200–900 pg /mL | Low |
| Serum Folate | 9 ng/mL | 3–20 ng/mL | Normal |
| LDH | **High (620 IU/L)** | <250 IU/L | Increased RBC turnover |
| Bilirubin (Indirect) | 2.1 mg/dL | <1.0 mg/dL | Mild hemolysis |
| Iron studies | Normal | — | Excludes iron deficiency |

11. Preliminary Diagnosis Based on macrocytosis , low B12, and neurological symptoms:
Provisional Diagnosis:
➡️ Megaloblastic anemia due to Vitamin B12 deficiency — likely secondary to pernicious anemia . Differential Diagnoses considered: Folate deficiency anemia Myelodysplastic syndrome
Alcohol-related anemia

12. Final Diagnosis ✅ Anemic Syndrome: Megaloblastic Anemia due to Vitamin B12 Deficiency (Pernicious Anemia )
Evidence:
Macrocytic RBCs, hypersegmented neutrophils
Serum B12 level very low (92 pg /mL)
Normal folate
Anti-intrinsic factor antibody positive
Neurological manifestations (peripheral neuropathy, ataxia) Megaloblastic changes on bone marrow examination

13. Treatment Plan A. Specific Therapy
1. Vitamin B₁₂ Replacement ( Hydroxocobalamin or Cyanocobalamin ): | Phase | Route | Dose | Duration |
| ----------------------- | ----- | --------------- | ------------------------------- |
| **Initial phase** | IM | 1000 µg daily | For 1 week |
| **Consolidation phase** | IM | 1000 µg weekly | For 4 weeks |
| **Maintenance phase** | IM | 1000 µg monthly | For life (in pernicious anemia ) |

14. Supportive therapy | Medication | Purpose |
| -------------------------------------- | ------------------------------------------ |
| **Folic acid 5 mg/day (oral)** | Supports DNA synthesis |
| **Iron supplement (if low ferritin)** | Prevents mixed anemia |
| **Diet counseling ** | Include eggs, dairy, meat (if permissible) |
| **Physiotherapy** | For gait training and neuropathy recovery |
| **Avoidance of tea/coffee with meals** | Improves absorption | Dietary Advice Encourage Vitamin B12-rich foods:
Meat, fish, liver
Eggs, milk, cheese
Fortified cereals or soy milk
For strict vegetarians → lifelong vitamin B12 supplementation.

15. Megaloblastic anemia results from defective DNA synthesis in rapidly dividing cells due to deficiency of Vitamin B12 and/or folate.
Vitamin B12 deficiency can result from:
Inadequate intake (vegetarian diet)
Malabsorption (pernicious anemia , gastric surgery, ileal disease)
Parasite infestation ( Diphyllobothrium latum ) Pathophysiology :
Impaired thymidylate synthesis → delayed nuclear maturation → large immature cells ( megaloblasts ).
Vitamin B12 is also essential for myelin synthesis → explains neurological symptoms (neuropathy, ataxia, cognitive decline).
Peripheral smear hallmark: Macro- ovalocytes & hypersegmented neutrophils.