Scd

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Scd

  1. 1. PRESENTED BY: INUSAH ADAMS (Ternopil State Medical Univ.) 30/11/13
  2. 2. PLAN OF PRESENTATION  DEFINITION  EPIDEMIOLOGY  ETIOLOGY  PATHOPHYSIOLOGY  SIGNS &SYMPTOMS  SYNDROMES  DIAGNOSIS/INVESTIGATIONS  DIFFERENTIALS  TREATMENT  COMPLICATIONS  PROGNOSIS
  3. 3. Question 20 year old male patient was rushed into your office on account of severe pain both lower limbs and knee joints. On examination the patient is clinically jaundiced with a temperature of 380C  What essential laboratory test would you request immediately?  Name two probable diagnoses  What treatment would you initiate to help this patient?  Mention three pathophysiological processes which could cause pain in such patients.
  4. 4. What is sickle cell disease/anemia? It is a severe hereditary form of anaemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels. It is an autosomal recessive form of inheritance
  5. 5. Epidemiology of sickle cell disease  Incidence:  6 to 9 million infants are born each year with sickle cell disease in Africa  Sickle cell disease occurs 1 in 600 African-American infants  1 in 12 people in Africa have sickle cell trait Prevalence (race)  Highest in African, African-American, Mediterranean (Italian, Sicilian, Greek), Middle Eastern, East Indian, Caribbean, and Central or South American descent Age  Affected patients characteristically are asymptomatic until approximately 4 to 6 months of age  Median age at death is approximately 42 years for men and 48 years for women Sex:  Ratio of male to female is 1:1
  6. 6. What is the etiology of sickle cell disease? Gene mutation substitution of valine for glutamic acid in position 6 of the β-globin chain of Hb.   HbAA- normal person  HbAS- sickle cell trait (they have a normal life span)  HbSS- sickle cell disease/anemia
  7. 7. Pathology con’t
  8. 8. Factor that provoke sickle cell crisis (malaria)  Infections  Sudden temperature changes  Dehydration  Extreme activity
  9. 9. Inheritance pattern (autosomal recessive) .
  10. 10. What is the pathophysiology of sickle cell disease?  Low oxygen tension a. Acidosis b. Dehydration c. Infections d. Changes in temperature  Polymerization (clumping) of Hb  Sickling of RBCs causing obstruction of blood vessels (vaso-occlussive crisis)  Ischemia (low O2 to tissues)  Infarction and tissue necrosis  Tissue death
  11. 11. Pathophysiology of SCD
  12. 12. What is the clinical presentation of SCD?  Signs of Anemia (pallor then later jaundice)  Episodes of pain in chest, abdomen, joints and bones.  Dactylitits (hand-foot syndrome): Swelling in the hands or feet, painful  Chronic leg ulcers (lateral malleoli)  Delayed growth  Poor vision (infarction of retina)  Splenomegaly then autosplenectomy by age 4yrs  Frequent infections caused by encapsulated bacteria (strep. Pneumoniae, Neisseria meningitides, H. influenza virus, klebsiella)  priapism
  13. 13. What are the syndromes of SCD?  Vaso-occlusive crisis (pain syndrome)  Splenic sequestration (congestion) crisis  Aplastic crisis (anemia syndrome)  Hemolytic crisis (the life span of sickled RBC is 20days, jaundice syndrome)
  14. 14. Diagnosis of SCD? CBC: low Hb, low RBC, reticulocytosis, high ESR  Biochemical blood test: high unconjugated bilirubin, low haptoglobin, high LDH  Sickling test: sickle cell shaped RBCs  Hb electrophoresis  Liver function test  Blood film for malaria parasites  ECG  Serological blood test to detect infection  Abdominal ultrasound may reveal splenomegaly in infants or autosplenomegaly in older children 
  15. 15. Peripheral blood smear (Normal Vs. Sickle Red Cells)
  16. 16. Differential diagnosis of SCD? DISEASE PRESENTATIONS/INVESTIGATIONS 1. G6PD deficiency X-link recessive, Heinz bodies can be seen in red blood cells on a blood film; 2. Acute pancreatitis (acute abdomen) Epigastric pain, high amylase and lipase High diastase activity 3. Osteomyelitis Persistent pain localized to one area, especially in a febrile patient, suggests the possibility of osteomyelitis. 4. Gout Swelling and painful big toe, high uric acid in blood, urate crystal in joints
  17. 17. Blood smear of G6PDD and SCD .
  18. 18. Hand-foot syndrome gout
  19. 19. Can we treat SCD?       No cure Rehydration therapy (N/S) Analgesics NSAIDs Narcotics Hydroxyurea (it increases production of HbF) 10mg/kg/day  Folic acid supplements  Treatment of infections (antibiotics, antimalarial)  Oxygen  Blood transfusion if aplastic anemia develops  Warmth  Other adjuvant medications (sedatives, anxiolytics) May increase efficacy of analgesics
  20. 20. Prevention of SCD/crisis  Genetic screening and counseling  Prevention of infections  Avoiding high altitude places  Avoid extreme activity (physical overexertion, stress)  Have sufficient rest, warmth, and increased fluid intake.  Vaccination against encapsulated bacteria  Avoid extreme changes in temperature  Avoid smoking and alcoholism  Frequent check ups every 3-6mths
  21. 21. Possible complications of SCD?  Congestive heart failure (most common cause of death in SCD)  Dactylitis  Avascular necrosis of hip or shoulder  Pulmonary hypertension  Osteomyelitis caused by salmonella  Stroke  Retinopathy  Splenic sequestration and autosplenomegaly  Aplastic anemia  Priapism  Leg ulcers
  22. 22. Complications due to treatment Narcotic dependence  Iron overload (hemochromatosis) from chronic transfusions  Peptic ulcer from NSAIDs usage 
  23. 23. Prognosis of SCD?  Patients who have 3 vaso-occlusive crisis three times a year die by age 35  Patients with fewer crisis die at in their 50s
  24. 24. Case history (Pasco) 20 year old male patient was rushed into your office on account of severe pain both lower limbs and knee joints. On examination the patient is clinically jaundiced with a temperature of 380C  What essential laboratory test would you request immediately?  Name two probable diagnoses  What treatment would you initiate to help this patient?  Mention three pathophysiological processes which could cause pain in such patients.
  25. 25. What essential laboratory test would you request immediately? FBC Sickling test Hemoglobin electrophoresis G6PD Clotting profile Blood films for malaria parasites LFTs
  26. 26. Name two probable diagnoses  Sickle Cell Disease  G6PD deficiency  Malaria
  27. 27. What treatment would you initiate to help this patient?  IV fluids for hydration  Supplemental oxygen  Analgesia  Look for and treat any infection
  28. 28. Mention three pathophysiological processes which could cause pain in such patients.  Vaso-occlusive crisis  Sequestration crisis  Hemolytic crisis  Aplastic Crisis

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