Transcript Red blood cells medical powerpoint template

A CASE
SCENARIO
by
Dr.Syed Hunain
Riaz
P.G M2
Slide 001
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
Slide 002
History of presenting illness
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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: 36/33
Renal function tests:
Urea: 17mg/dl
Creatinine: 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
Slide 004