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HEREDITARY/ACQUIRED ANEMIA

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hereditary/acquired anemia dr. batizy, d.o. prepared by jeffrey l pay, d.o. november 3, 2003 hereditary hemolytic anemia characterized by ... – PowerPoint PPT presentation

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Title: HEREDITARY/ACQUIRED ANEMIA


1
HEREDITARY/ACQUIRED ANEMIA
  • DR. BATIZY, D.O.
  • PREPARED BY JEFFREY L PAY, D.O.
  • NOVEMBER 3, 2003

2
HEREDITARY HEMOLYTIC ANEMIA
  • CHARACTERIZED BY
    - DEFECTS OF HEMOGLOBIN OR
    - DEFECTS OF THE RBC MEMBRANE
  • RESULTS IN PREMATURE DESTRUCTION OF RED CELLS

3
TYPES OF HA
  • SICKLE CELL DISEASE
  • THALASSEMIAS
  • G6PD DEFICIENCY
  • HEREDITARY SPHEROCYTOSIS

4
SICKLE CELL DISEASE
  • INHERITED, AUTOSOMAL RECESSIVE TRAIT DISEASE
    SEEN IN PTS WHO ARE HOMOZYGOUS FOR THE SICKLE
    CELL GENE (HbSS)
  • MOST COMMON REASON TO ER PAINFUL VASO-OCCLUSIVE
    CRISIS
  • ACUTE CHEST SYNDROME (ACS) LEADING CAUSE OF DEATH
    FROM SCD IN US

5
SICKLE CELL ANEMIA
  • SICKLE CELL TRAIT IN 8 OF THE U.S. BLACK
    POPULATION
  • PEOPLE WITH TRAIT HAVE A NORMAL LIFE SPAN AND
    USUALLY ASYMPTOMATIC
  • SICKLE CELL TRAIT THOUGHT TO BE PROTECTIVE
    AGAINST MALARIA

6
SCD - PATHOPHYS
  • HEMOGLOBIN S CAUSED BY MUTATION OF ß CHAIN
    substitution of the AA valine for glutamine at
    position 6 of the ß-globin chain
  • DEOXYGENATED HEMOGLOBIN S POLYMERIZES, WHICH
    DEFORMS RBC AND CAUSES SICKLED APPEARANCE
  • SICKLED CELL INCREASES VISCOSITY OF BLOOD,
    OBSTRUCTS MICROVASC
  • VASO-OCCLUSIVE CRISIS OCCURS FROM SICKLING IN
    MICROCIRCULATION

7
SCD CLINICAL SX
  • PTS ARE FUNCTIONALLY ASPLENIC AFTER EARLY
    CHILDHOOD, AT RISK FOR SERIOIUS INFECTION FROM
    ENCAPSULATED ORGANISMS
  • PTS MAY HAVE CHF, CM, COR PULMONALE, LE
    ULCERATIONS, ICTERUS, HEPATOMEGALY
  • PTS WITH ACS WILL HAVE PULMONARY SX PLEURITIC
    CP, FEVER, HYPOXIA

8
SCD CLINICAL SX
  • NEUROLOGIC SX CEREBRAL INFARCT IN KIDS,
    HEMORRAGE IN ADULTS TIA, SEIZURES, HA, COMA
  • PRIAPISM
  • SWELLING OF HANDS FEET DUE TO VASO-OCCLUSION
  • INFARCTION OF RENAL MEDULLA, ASSOC WITH FLANK
    PAIN AND HEMATURIA

9
SCD CAUSES OF VASO-OCCLUSIVE CRISES
  • COLD EXPOSURE, DEHYDRATION, HIGH ALTITUDE
  • INFECTIONS (ENCAPSULATED H. influenza
    PNEUMOCOCCI

10
SCD DIAGNOSIS
  • SCD USUALLY DX EARLY IN PT LIFE
  • PRESCENCE OF SICKLING RBCS ON PERIPHERAL BLOOD
    SMEAR IS DX
  • DROP IN HBG BY 2 g/dL FROM BASELINE SUGGESTS
    ACUTE APLASTIC CRISIS
  • RETIC COUNT COUNT LESS THAN BASELINE OF 5-15
    MAY REFLECT APLASTIC CRISIS
  • LEUKOCYTOSIS WITH LEFT SHIFT INFECTION MAYBE
    CAUSE OF CRISIS

11
SCD DIFF DX
  • OSTEOMYELITIS
  • ACUTE ARTHRITIS
  • PANCREATITIS
  • HEPATITIS
  • PE
  • MENINGITIS
  • PID
  • PYELONEPHRITIS

12
SCD ER TREATMENT
  • PTS WITH DEHYDRATION OR ACUTE PAIN REHYDRATED
    ORALLY OR WITH IV FLUIDS NORMAL SALINE _at_ 1.5
    TIMES MAINTENANCE
  • NARCOTICS PROMPTLY FOR SEVERE PAIN, BEWARE OF
    DRUG SEEKERS
  • INFECTION OR TEMP gt 38C HAVE CULTURES DRAWN
    START BROAD-SPEC ABX CEFUROXIME OR CEFTRIAXONE

13
SCD ER TREATMENT
  • TRANSFUSION FOR SC CRISIS OR COMPLICATIONS IS
    RESERVED FOR SPECIFIC INDICATIONS APLASTIC
    CRISIS, PREGNANCY, STROKE, RESP FAILURE, SURGERY,
    PRIAPISM
  • PTS WITH PRIAPISM NEED HYDRATION, ANALGESIA, AND
    IMMEDIATE UROLOGY CONSULT

14
SCD ER TREATMENT
  • PTS WITH ACUTE BONE PAIN THINK OSTEOMYELITIS
  • DRAW CULTURES AND START IV ABX COVERING Staph
    aureus and Salmonella typhimurium

15
SCD ADMIT/DISPO
  • ADMISSION CRITERIA INCLUDE PULM, NEURO, APLASTIC,
    OR INFECTIOUS CRISES SPLENIC SEQUESTRATION
    INTRACTIBLE PAIN PERSISTENT N/V OR UNCERTAIN DX
  • DISCHARGED PTS SHOULD RECEIVE ORAL ANALGESICS,
    CLOSE FOLLOW UP, AND INSTRUCTIONS TO RETURN TO ER
    IMMEDIATELY FOR FEVER gt38C OR WORSENING SX

16
THALASSEMIAS
  • MICROCYTIC, HYPOCHROMIC, HEMOLYTIC ANEMIA
  • MOST COMMON IN AFRICAN, MEDITERRANEAN, MIDDLE
    EASTERN, SOUTHEAST ASIAN DESCENT
  • MULTIPLE VARIANTS

17
THALASSEMIAS
  • CHARACTERIZED BY DEFECTIVE SYNTHESIS OF GLOBIN
    CHAINS, UNABLE TO PRODUCE NORMAL ADULT HEMOGLOBIN
  • TRAIT THOUGHT TO BE PROTECTIVE AGAINST MALARIA AS
    WELL

18
HEMOGLOBIN
  • NORMAL ADULT RBC CONSISTS OF 3 FORMS OF Hb
    - HbA
    - 2 a and 2 ß globin chains
    - HbA2 2 a and 2 d globin chains
    - HbF - 2 a and 2 ? globin chains
  • THALASSEMIAS a and ß

19
THALASSEMIAS
  • TYPES OF DZ CHARACTERIZED BY DEFFERING EXTREMES
    OF ANEMIA
  • DEPENDS ON AMOUNT OF INEFFECTIVE ERYTHROPOIESIS
    AND PREMATURE DESTRUCTION OF CIRCULATING RBCS
  • HYPOXIA IN SEVERE CASES

20
G6PD DEFICIENCY
  • MOST COMMON HUMAN ENZYME DEFECT
  • X-LINKED DISORDER
  • AFFECTS 15 OF U.S. BLACK MALES
  • DECREASE IN GLUTATHIONE LEVELS

21
G6PD DEFICIENCY
  • HEINZ BODIES SEEN ON PERIPHERAL BLOOD SMEAR
  • NEONATAL JAUNDICE 1-4 DAYS AFTER BIRTH IN SEVERE
    VARIANTS
  • INCREASE INCIDENCE OF PIDMENTED GALLSTONES AND
    SPLENOMEGALY

22
G6PD DEFICIENCY
  • ACUTE HEMOLYTIC CRISIS DUE TO -
    BACTERIAL/VIRAL INFECTION - OXIDANT
    DRUGS (SULFAMETHOXAZOLE) -
    METABOLIC ACIDOSIS (DKA) -
    RENAL FAILURE
    - INGESTION OF FAVA BEANS

23
G6PD DEFICIENCY
  • DIAGNOSIS QUANTITATIVE ASSAY DETECTING LOW
    ENZYME
  • TREATMENT SUPPORTIVE AND PREVENTATIVE

24
HEREDITARY SPHEROCYTOSIS
  • RBS MEMBRANE DEFECT
  • MOST COMMON HEREDITARY ANEMIA FROM PTS OF
    NORTHERN EUROPEAN DESCENT
  • AUTOSOMAL DOMINANT
  • MUTATIONS IN SPECTRIN AND ANKYRIN (MEMBRANE
    PROTEINS)

25
HEREDITARY SPHEROCYTOSIS
  • SPHEROCYTES IN PERIPHERAL BLOOD SMEAR
  • SPHEROCYTES UNABLE TO PASS THROUGH THE SPLEEN
  • SEVERE CASES REQUIRE A SPLENECTOMY

26
HEREDITARY SPHEROCYTOSIS
  • NEONATAL JAUNDICE IN 1ST WEEK OCCURS IN 30-50 OF
    HS PTS
  • ANEMIA, SPLENOMEGALY, JAUNDICE, AND TRANSFUSIONS
    NEEDED VARY DEPENDING ON SEVERITY OF DZ

27
ACQUIRED HEMOLYTIC ANEMIA
  • DESTRUCTION OF RBCS NO DUE TO GENETIC/CONGENITAL
    DISORDER OF HGB SYNTHESIS OR RBC MEMBRANE
  • AUTOIMMUNE, ALLOIMMUNE, DRUG-RELATED CAUSES
  • MICROANGIOPATHIC SYNDROMES (TTP, HUS)

28
AUTOIMMUNE HA
  • PTS MAKE ANITBODIES AGAINST THEIR OWN RBCS
  • WARM-TYPE AIHA 70 CASES - IgG
    MEDIATED
  • COLD-TYPE AIHA IgM MEDIATED - 2
    SUBTYPES

29
DRUG RELATED HA
  • ALPHA-METHYLDOPA
  • LEVODOPA
  • PROCAINAMIDE
  • SULFA DRUGS
  • PENICILLIN
  • CEFTRIAXONE
  • CEFOTETAN
  • QUINIDINE

30
ALLOIMMUNE HA
  • HEMOLYTIC DZ OF NEWBORN
  • HEMOLYTIC TRANSFUSION REACTIONS

31
ALLOIMMUNE HA - NEWBORN
  • MATERNAL ALLOANTIBODIES FORM AFTER RhD-NEGATIVE
    MATERNAL RBCS EXPOSED TO RhD-POSITIVE FETAL
    BLOOD
  • ABS CROSS PLACENTA AND DESTROY FETAL RBCS
    - ANEMIA, FETAL HYDROPS,
    DEATH,
    JAUNDICE

32
ALLOIMMUNE HA - TRANSFUSION
  • PT HAS PREVIOUS TRANSFUSION
  • SENSITIZATION TO ALLOGENIC RBC ANTIGEN OCCURS
  • LATER TRANSFUSIONS, PT MAY DEVELOP FEVER, CP,
    TACHYPNEA, TACHYCARDIA, HYPOTENSION,
    HEMOGLOBINURIA, OLIGURIA

33
MICROANGIOPATHIC SYNDROMES
  • THROMBOCYTOPENIC PURPURA
  • HEMOLYTIC UREMIC SYNDROME

34
TTP HUS - PATHOPHYS
  • PLATELET AGGREGATION IN THE MICROVASCULATURE
    CIRCULATION VIA MEDIATION OF von WILLEBRANDS
    FACTOR LEADS TO THROMBOCYTOPENIA AND
    FRAGMENTATION OF RBCS AS THEY PASS THROUGH THESE
    OCCLUDED ARTERIOLES AND CAPILLARIES

35
THROMBOCYTOPENIC PURPURA (TTP)
  • PLATLET COUNTS lt 20,000
  • MORE COMMON IN WOMEN AGES 10-60
  • FEVER, NEUROLOGIC DEFICITS, HEMORRAGE, AND RENAL
    INSUFFICIENCY
  • UNTREATED 80-90 MORTALITY

36
TTP
  • SCHISTOCYTES OR HELMET CELLS SEEN OF PERIPHERAL
    SMEAR
  • INCREASED BUN/Cr LEVELS

37
TTP
  • PREGNANCY IS THE MOST COMMON PRECIPITATING EVENT
    FOR TTP
  • PREECLAMPSIA SIMILAR TO TTP DELIVERY TX FOR
    PREECLAMPSIA, NOT CURE TTP

38
TTP ER TREATMENT
  • PREDNISONE 1-2mg/kg/day INITIALLY
  • PLASMA EXCHANGE TRANSFUSION IS FOUNDATION FOR TX
    (INFUSE FRESH FROZEN PLASMA IF TRANSFUSION
    UNAVAILABLE
  • AVOID PLATELET TRANSFUSION
  • NEVER USE ASPIRIN

39
TTP ER TREATMENT
  • PT MAY NEED SPLENECTOMY
  • AZATHIOPRINE AND CYCLOPHOSPHAMIDE FOR THOSE WHO
    FAIL OR CANNOT TOLERATE STEROIDS

40
HUS
  • DZ OF EARLY CHILDHOOD
  • PEAK INCIDENCE BETWEEN 6mo-4yr
  • OFTEN FOLLOWS BACTERIAL/VIRAL ILLNESS
  • MORTALILY 5-15, WORSE IN OLDER CHILDREN ADULTS

41
HUS
  • CHARACTERIZED BY
    -ACUTE RENAL FAILURE -MICROANGIOPATHIC HA
    -FEVER

    -THROMBOCYTOPENIA (NOT AS
    SEVERE AS TTP)

42
HUS
  • THE MOST COMMON CAUSE OF ACUTE RENAL FAILURE IN
    CHILDHOOD
  • E.Coli O157H7 COMMON CAUSE
  • MICROTHORMBI ARE CONFINED MAINLY TO KIDENYS,
    WHERE TTP MORE WIDESPREAD

43
HUS ER TREATMENT
  • MILD HUS lt 24hr OF URINARY SX NEELS ONLY
    FLUID/ELECTROLYTE CORRECTION AND SUPPORT CARE
  • STEROID THERAPY
  • HEMODIAYLSIS IF ACUTE RENAL FAILURE PRESENT
  • ABX TX CONTROVERSIAL WHEN E.Coli PRESNENT DO NOT
    USE ANTIMOLITY DRUG, INCREASE RISK OF DEVELOP HUS

44
HELLP SYNDROME
  • HEMOLYSIS
  • ELEVATED LIVER ENZYMES
  • LOW PLATLET COUNTS

45
HELLP SYNDROME
  • 1 IN 1OOO PREGNANCIES
  • SEEN IN PRESENCE OF ECLAMPSIA, PREECLAMPSIA, AND
    PLACENTAL ABRUPTION
  • MAY EXTEND UP TO 6 DAYS POSTPARTUM

46
HELLP SYNDROME
  • RUQ AND EPIGASTRIC PAIN SEEN IN 90 OF PTS
    (POSSIBLE HEPATIC RUPTURE)
  • DX BASED ON LAB DATA
  • DECREASED SERUM HAPTOGLOBIN LEVEL MOST SENSITIVE

47
HELLP SYNDROME - TX
  • PROMPT DELIVERY OF INFANT
  • SUPPORTIVE CARE FOR SEIZURES AND HTN CRISIS
  • STEROIDS MAY HELP FETAL LUNGS, BUT NO BENEFIT TO
    HELLP SYNDROME

48
THE END
  • QUESTIONS????

49
1. PT WITH SICKLE CELL DISEASE ARE AT RISK FOR
SERIOUS INFECTIONS BY WHICH?
  • A) CAPSULATED ORGANISMS
  • B) ENCAPSULATED ORGANISMS
  • C) BOTH A B
  • D) NEITHER A OR B

50
  • T OR F
  • 2. PT WITH THE SICKLE CELL TRAIT ARE OFTEN
    SYMPTOMATIC AND WILL NEED A SPLENECTOMY

51
3. G6PD DEFICIENCY RESULTS IN A LOW LEVEL OF
WHICH ENZYME?
  • A) FOLIC ACID
  • B) GLUTATHIONE
  • C) SPHINGOMYELIN
  • D) B12

52
4. WHICH OF THE FOLLOWING STATEMENTS IS TRUE?
  • A) TTP IS MORE COMMON IN MEN 20-40 YEARS OF AGE
  • B) TTP HAS NORMAL PLATELET LEVELS
  • C) HUS DOES NOT USUALLY AFFECT THE KIDNEYS
  • D) HUS IS DISEASE OF THE YOUNG, USUALLY 6MO-4YRS
    OF AGE

53
5) WHICH OF THE FOLLOWING IS NOT PART OF THE
HELLP SYNDROME?
  • A) HIGH BUN/CR
  • B) LOW PLATELETS
  • C) ELEVATED LIVER ENZYMES
  • D) HEMOLYSIS
  • E) THROMBOCYTOPENIA
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