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A CASE SCENARIO

Dr.Syed Hunain Riaz

P.G M2

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HISTORY

Case History

• A 14 years old boy of very low socioeconomic background presented with

1. Shortness of breath--------About 10 years

2. Generalized weakness-----About the same duration

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History of presenting illness

The boy was was in his usual state of health when he was about 4 years old when he gradually developed shortness of breath. It was exertional in nature.

• He did not have orthopnea or PND. • There is h/o palpitations associated with the dyspnea. • No h/o chest discomfort, body swellings or hemoptysis.• No h/o syncopal events.• H/o yellowish discoloration of eyes for the last many

years, no h/o abdominal distention, no h/o unconsciousness

• He started to develop generalized weakness and as such was unable to perform simple activities.

• No h/o blood in stools, no h/o alternating bowel habits or worms in stool.

PAST HISTORY• Non/diabetic, non/diabetic, non-asthmatic. Has had blood

transfusions three times over period of 10 years.

FAMILY HISTORY• No h/o diabetes, IHD, asthma or TB in the family, no h/o any

disease in his siblings. Has 3 brothers, all older than him, all healthy.

• DRUG HISTORY

No h/o any drug intake and no allergies to any medicine

• SOCIOECONOMIC HISTORY

Belongs to a lower class family who earn their bread by farming

EXAMINATION

General Physical exam

• A young boy of average built with prominent facial bony features ( slightly protuding forhead, prominent zygomatic area ) well oriented, sitting comfortably in bed.

• Vitals and Exam findings :

BP: 90/50 mmHg

Pulse: 90/min

R/R: 18/min

Temp: Afebrile

Jaundice: ++(lime colored)

Pallor: +++

Cyanosis: -

Clubbing: -

Lymph nodes: -

JVP: Not Raised

Pedal edema: -

Palmar erythema: -

Neck veins: Not distended

Koilonychia: -

• 2 shallow ulcers(2-3 cm each) with clean margins and yellowish discharge on dorsum of right foot.

Marked pallor on Exam

Systemic Exam

Cardiovascular: • Apex beat in left fifth ICS, normal in

character• Soft S1 and S2, soft A2 and loud P2• Pansystolic murmur heard in mitral area,

radiating to axilla.• Pansystolic murmer heard in tricuspid

area, increasing in intensity with inspiration

• Gastrointestinal:• Abdomen soft, non tender, no pulsations or

veins visible• Upper border of liver in right 5th ICS, lower edge

palpated about 4 fingers below right hypochondrium, extending into the epigastrium, non-tender, and smooth surfaced. Liver span about 18 cm

• Spleen palpated 2 fingers below left hypochondrium towards the umbilicus, non tender and smooth surfaced.

• No free fluid on in abdomen on examination

Hepatosplenomegaly

CNS:• Grossly intact

Respiratory:• Normal chest shape and movements• Chest expansion normal• NVB with no added sounds

Muskoloskeletal:• NAD

Differential Diagnosis based on History\Exam

• Anemia ( Iron deficiency? Hemolytic? )• Lymphoproliferative disorder?• Valvular heart disease ( leading to long

standing anemia )?

INVESTIGATIONS

CBC with peripheral smear• Hb: 3.4 g/dl• Rbc: 1.3 ×10^12/l• Hematocrit: 8%• MCV: 75 fl• MCH: 24 pg N ( 26-32 )• MCHC: 31 g/dl N ( 30-35 )• Platelets: 265×10^9/l• WBC: 7×10^9/l• Neutrophils, monocytes, eosinophils, basophils and

lymphocytes all within normal limits• Retic count: 1%

RBC morphology:

Hypochromia: +++

Microcytosis: ++

Anisocytosis: +++

Poikilocytosis: +++

Target cells: ++

ESR: 150 mm/1st hour

LDH: 550 IU ( upto 450 )

URINE C/E:• Normal pH, no sugars, no proteins.• No hemoglobinuria, no hemosiderin pigments.• Urobilinogen normal, bilirubin not detected• No blood cells.

Liver function tests:• Bilirubin total: 2.1 mg/dl• Bilirubin direct: 1.3 ( 0.1-0.7 )• Bilirubin indirect: 0.8 ( 0.1-0.4 )• ALT: 56 IU• AST: 41 IU• ALK phosphatase: 394 IU/l ( 100-270 )• Proteins: 5.4 g/dl• Albumin: 2.7• Globulin: 2.7• PT: 16/13• aPTT: 36/33Renal function tests:Urea: 17mg/dlCreatinine: 0.5 mg/dl

Stool exam:

No ova or parasites, negative for occult blood.

USG ABDOMEN\ PELVIS:• 18.5 cm Liver with normal echotexture, intra/extrahepatic biliary

channels normal, no focal lesion• Spleen 16 cm ( enlarged )• KUB normal• No fluid or lymph nodes seen in peritoneal cavity

CHEST XRAY:

Enlarged heart, lungs and costophrenic angles clear

ECG:

Normal axis and rhythm, symmetric T-wave inversions in anterior chest

leads

Echocardiography:• Mild dilatation of cardiac chambers• Slightly increased pulmonary arterial pressure• Normal valves but functional MR and TR present• Normal biventricular function

WHAT’S LIKELY AND WHAT TO DO?

Based on clinical and investigation data, there was a high suspicion of a long standing hemolytic anemia (extravascular hemolysis), specifically “ THALASSEMMIA”, so a hemoglobin electrophoresis was ordered…..

Hemoglobin Electrophoresis:

• HbA: 53.4 %• HbF: 44.2 %• HbA2: 2.4 %

CONCLUSION

The final diagnosis was:

ß-THALASSEMIA INTERMEDIA/ MAJOR

Thalassemias

• A heterogenous group of inherited disorders of hemoglobin synthesis resulting decreased or absent hemoglobin chains synthesis

• Classified into alpha and beta thalassemias.• Varied pattern of inheritance• Decreased synthesis of ß-chains result in over

production of alpha chains, and also gamma and delta chains leading to the finding of fetal and HbA2 type of hemoglobin in ß-thalassemias

Treatment

• Thalassemia major\ intermedia patients are treated on the following lines:

• BLOOD TRANSFUSIONS• CHELATION THERAPY ( DESFERIOXAMINE )• ALLOGENIC BONE MARROW TRANSPLANTATION

Splenectomy may be needed if BMT is not feasible for reducing the RBC destruction in the spleen

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