Apla is autoimmune,more common in females Primary apla is associated with hla Secondary apla is associated with other connective tissue disorders

1. A RARE
CAUSE FOR
VISUAL
DEFECT
PRESENTOR:
DR.M.L.N SANDEEP
UNIT CHIEF :
DR.K.T JAYAKUMAR

2. CHIEF COMPLIANTS
A 25 YEAR OLD FEMALE WITH
NO KNOWN COMORBIDITIES
CAME TO THE CASUALTY
WITH COMPLAINTS OF
SUDDEN DIMINUTION OF
VISION, SINCE MORNING
C/O HEAD ACHE X 7 DAYS

3. HISTORY OF PRESENTING ILLNESS
PATIENT WAS APPARENTLY NORMAL 7 DAYS BACK,
C/O HEAD ACHE X 7 DAYS,MODERATE IN INTENSITY,HOLOCRANIAL,LASTING FOR 1
HOUR,NOT ASSOCIATED WITH VOMITINGS/AURA/PHOTOPHOBIA,AGGRAVATED ON
WALKING,RELIEVED AFTER TAKING MEDICATIONS AND ON REST.
C/O SUDDEN DIMINUTION OF VISION IN BOTH EYES SINCE MORNING,NON
PROGRESSIVE IN NATURE,NOT ASSOCIATED WITH PAIN/ FLASH/FLOATERS/TRAUMA

4. NO H/O LIMB WEAKNESS
NO H/O SLURRING OF SPEECH/SLOWING OF SPEECH
NO H/O DEVIATION OF ANGLE OF MOUTH
NO H/O DIFFICULTY IN SWALLOWING
NO H/O ALTERED SMELL SENSATION
NO H/O HEARING LOSS
ABLE TO PERCIEVE COLD AND WARMTH
ABLE TO FEEL THE SENSATIONS OVER THE BODY

5. NO H/O INVOLUNTARY MOVEMENTS OF LIMBS
NO H/O LOSS OF CONSIOUSNESS/SEIZURES
NO H/O BOWEL AND BLADDER DISTURBANCES
NO H/O FEVER/COUGH/BREATHLESSNESSS
NO H/O EAR PAIN
NO H/O TRAUMA
NO H/O DRUG INTAKE
NO H/O PAIN IN THE CALF MUSCLES
NO H/O CHEST PAIN/PALPITATIONS

6. PAST HISTORY:
• NO H/O SIMILAR ILLNESS IN THE PAST
• NOT A K/C/O TYPE 2 DIABETES MELLITUS/SYSTEMIC
HYPERTENSION/THYROID ABNORMALITY/BRONCHIAL
ASTHMA/CORONARY ARTERY DISEASE/SEIZURE
DISORDER/TUBERCULOSIS/SEXUALLY TRANSMITTED DISEASES
PERSONAL HISTORY:
• PATIENT TAKES MIXED DIET/HAS NORMAL APPETITE/NORMAL SLEEP
PATTERN
• NO ADDITIVE HABITS

7. • OBSTETRIC AND MENSTRUAL HISTORY:
• MARRIED 8 YEARS BACK,NOT CONCIEVED UNTIL NOW
• NO H/O ORAL CONTRACEPTIVES INTAKE/HORMONAL THERAPY
• NO H/O RECCURENT ABORTIONS
• PATIENT HAS IRREGULAR MENSTRUAL CYCLE 2/28 DAYS,SCANTY FLOW
• FAMILY HISTORY:
• NO H/O SIMILAR COMPLAINTS IN THE FAMILY
• NIL SIGNIFICANT

8. SUMMARY OF THE HISTORY :
ACUTE ONSET OF BILATERAL VISION LOSS,
IN A YOUNG FEMALE,WITH NO KNOWN COMORBIDITIES,
PRECEEDED BY DIFFUSE HEAD ACHE ,
SYMPTOMS SUGGESTIVE OF RAISED INTRACRANIAL TENSION

9. ON EXAMINATION:
• PATIENT IS CONSIOUS/ORIENTED TO TIME,PLACE AND PERSON
• PATIENT IS AFEBRILE AT PRESENT
• PATIENT IS ANEMIC
• NO ICTERUS/NO CYANOSIS/NO CLUBBING/NO PEDAL EDEMA/NO
LYMPADENOPATHY
VITALS:
BP-130/90 MM HG MEASURED IN RIGHT UPPER LIMB,PATIENT IN SITTING POSITION
PULSE RATE:90 BPM,REGULAR RHYTHM,NORMAL VOLUME AND CHARACTER,ALL
PERIPHERAL PULSES FELT NORMALLY,NO RADIO RADIAL OR RADIO FEMORAL DELAY
RR-16/MIN,SPO2-98 % UNDER ROOM AIR
CBG-88 MG/DL
TEMPERATURE:98 F

10. • SYSTEMIC EXAMINATION:
• CENTRAL NERVOUS SYSTEM EXAMINATION:
• HIGHER MENTAL FUNCTION :
• GCS 15/15
• RIGHT HANDEDNESS
• SPEECH –NORMAL
• MEMORY – NORMAL
• NO APHASIA( COMPREHENSION, FLUENCY,REPITITION INTACT)

11. • MOTOR SYSTEM EXAMINATION:
RIGHT LEFT
POWER: U/L : 5/5
L/L : 5/5
U/L : 5/5
L/L : 5/5
HANDGRIP 100% 100%
PLANTAR FLEXOR FLEXOR
REFLEXES 2+ 2+

12. EXAMINATION OF EYE :
• BE : VISUAL ACUITY : 2/60
ON EXAMINATION: RIGHT EYE LEFT EYE
• EOM NO RESTRICTION NO RESTRICTION
• EYELIDS NORMAL NORMAL
• CONJUCTIVA CLEAR CLEAR
• CORNEA CLEAR CLEAR
• ANTERIOR CHAMBER NORMAL NORMAL
• IRIS NORMAL COLOUR AND PATTERN
• PUPIL NORMAL SIZE,SLUGGISHLY REACTIVE TO LIGHT
• LENS CLEAR CLEAR

13. FUNDUS EXAMINATION:
MEDIA : CLEAR
DISC : NORMAL
VESSELS:NORMAL
CUP DISC RATIO : 0.3:1
FOVEAL REFLEX : PRESENT
NORMAL FUNDUS STUDY

14. • 3RD CRANIAL NERVE: NORMAL
• OTHER CRANIAL NERVE EXAMINATION – NORMAL
• CEREBELLUM EXAMINATION – NORMAL
• ANS EXAMINATION - NORMAL

15. CARDIO VASCULAR SYSTEM :S1,S2 PRESENT,
• NO MURMURS HEARD,JVP NORMAL
RESPIRATORY SYSTEM:
• NVBS PRESENT IN BOTH LUNGS
ABDOMEN:
• SOFT
• NO ORGANOMEGALY
• BOWEL SOUNDS HEARD

16. INITIAL DIAGNOSIS :
• DIMINUTION OF VISION UNDER EVALUATION
1)TO RULE OUT LOCAL EYE PATHOLOGY
(VITROUS HEMORRHAGE/CENTRAL RETINAL ARTERY
OCCLUSION/CYSTOID MACULAR EDEMA)
2)PITUTARY TUMOR
3)OCCIPITAL INFARCT

17. PATIENT WAS SHIFTED TO CT BRAIN PLAIN :
• ACUTE INFARCT IN RIGHT
OCCIPITO-PARIETAL REGION
WITH PUNCATATE FOCI OF
HEMORHAGE AND
THROMBOSED CORTICAL
VEIN
• WELL DEFINED
HYPOINTENSITY IN RIGHT
MEDIAL TMEPORAL LOBE

18. INVESTIGATIONS :
CBC
TOTAL COUNT
N-77.5, L-16.5
M-3.2, E-2.7
B-0.1
9860
HB
MCH-15
MCHC-24
MCV-62
6.1
RBC 4.1
PLATELET 4,52,000
PCV 25
SERUM
ELECTROLYTES
SODIUM 137
POTASSIUM 3.9
BICARBONATE 22
CHLORIDE 105
MAGNESIUM 2.0
CALCIUM 9.0
PHOSPHORUS 3.4
LIVER FUNCTION
TEST
TOTAL BILURUBIN 1.05
SGOT 14
SGPT 11
ALBUMIN 3.6
ALP 6
GGT 18
FLP NORMAL

19. INVESTIGATIONS :
RENAL
FUNCTION TEST
SERUM UREA 9
SERUM CREAT 0.5
BUN 4
COAGULATION
PROFILE
PT 14
APTT 31
INR 1.05
PERIPHERAL SMEAR MICROCYTIC HYPOCHROMIC
ANEMIA
RETIC COUNT 2.6%
SERUM IRON 13
ESR ELEVATED(35)
CRP ELEVATED(19.6)
STOOL OCCULT BLOOD NEGATIVE
THYROID FUNCTION TEST NORMAL
HIV/HCV/HBS NEGATIVE

20. ECG:NORMAL SINUS RHYTHM
• 2D ECHO:
• NO RWMA
• NORMA LVEF(EF-62%)
• NORMAL VALVE CHAMBERS
• NORMAL STUDY
• STABLE CARDIAC STATUS AT PRESENT
• USG ABDOMEN: Polycystic ovarian syndrome
• CHEST XRAY:NORMAL
• CV DOPPLER : NORMAL STUDY

21. MRI BRAIN WITH MRA AND MRV :
1. HETEROGENOUSLY HYPERINTENSE AREA INVOLVING CORTICAL AND
SUBCORTICAL REGIONS OF RIGHT PARIETO OCCIPITAL REGION
2. RESTRICTED DIFFUSION AND FEW PUNCTATE FOCI OF
HEMORRHAGE-FEATRURES
3. SUGGESTIVE OF CEREBAL VENOUS INFARCTION AND POSSIBLE
CORTICAL VEIN THROMBOSIS

25. • SINCE THE PATIENT IS VERY YOUNG,WITH NO KNOWN
COMORBITIES,PRESENTING WITH CVT,PRO THROMBOTIC WORKUP
WAS DONE.
PATIENT HAS BEEN REQUESTED FOR :
1. SERUM HOMOCYSTEINE LEVELS
2. ANTI THROMBIN 3
3. ANTI PHOSPHOLIPID ANTIBODY
4. ANA
5. PROTEIN C AND PROTEIN S

26. PROTHROMBOTIC WORKUP
• APLA
1)LUPUS ANTICOAGULANT-NOT DETECTED
2)BETA 2 GLYCOPROTEIN – IgM POSITIVE (3.14); IgG NEGATIVE
3)ANTIPHOSHOLIPID-IgM ELEVATED(17.3); IgG NORMAL
4)ANTI CARDO LIPIN- IgM NEGATIVE ;IgG NEGATIVE
• ANA PROFILE-NEGATIVE
• ANTI THROMBIN 3-NORMAL
• SERUM HOMOCYSTEINE-NORMAL

27. FINAL DIAGNOSIS:
PRIMARY ANTI PHOSPHOLIPID SYNDROME
PRESENTING AS ACUTE CEREBRO VASCULAR ACCIDENT
WITH CORTICAL VENOUS THROMBOSIS CAUSING
SUDDEN DIMINUTION OF VISION

28. TREATMENT GIVEN:
• 1)INJ CLEXANE 60 MG 1-0-1 S/C
• 2)STATINS
• 3)BRIDGING DONE WITH ACITROM,
AFTER 3 DAYS TO MAINTAIN TARGET INR
AT 2.5—3.0

29. NEUROLOGY OPINION:
• CASE DISCUSSED WITH NEUROLOGIST.
• ADVISED TO CONTINUE INJ CLEXANE 60 MG 1-0-1 AND TO SWITCH TO
ORAL ANTICOAGULANTS WITH BRIDGING THERAPY

30. OPTHAL REVIEW :
PATIENT WAS SENT TO OPTHAL REVIEW AFTER 1 WEEK OF ADMISSION
PATIENT VISION IMPROVED
RIGHT EYE:6/9
LEFT EYE:6/9

31. • AN AUTO ANTIBODY-MEDIATED ACQUIRED
THROMBOPHILIA, CHARACTERIZED BY
RECCURENT ARTERIAL OR VENOUS
THROMBOSIS AND/OR PREGNANCY
MORBIDITY

33. TYPES OF ANTI PHOSPHOLIPID SYNDROME :
1) PRIMARY ANTI PHOSPHOLIPID SYNDROME:
NOT ASSOCIATED WITH OTHER CONNECTIVE TISSUE DISORDERS
ASSOCIATED WITH HLA DR W53 AND DR 4
2) SECONDARY ANTI PHOSPHO LIPID SYNDROME:
ASSOCIATED WITH OTHER AUTO IMMUNE CONDITIONS
3) CATASTROPHIC ANTI PHOSPHOLIPD SYNDROME:
AFECTS MICRO CAPILLARIES

34. CLASSIFICATION
OF
ANTIPHOPHOLID
ANTIBODIES
LUPUS ANTI COAGULANT INDIRECT DETECTION WITH
aPTT
DRVVT(RUSSEL VIPER
VENOM TEST)
ANTI CARDIOLIPIN
ANTIBODY
DIRECT DETECTION WITH
ELISA
ANTI BETA 2
GLYCOPROTEIN
DIRECT DETECTION WITH
ELISA

35. CAUSES OF THROMBOSIS IN APS :
1) ANTIBODIES AGAINST PHOSPHOTIDYL PROTEINS
• BETA 2 GLYCOPROTEIN IS A PHOSPHOLIPID BINDING PROTEIN
• PHOSPHOTIDYL SERINE,MOST COMMONLY PRESENT INTRACELLULARLY,REACHES THE
SURFACE OF THE PLATELET AND BINDS TO BETA 2 GLYCOPROTEIN LEADING TO
APOPTOSIS OF THE PLATELET.
• ANTIBODIES IN APS ARE DIRECTED TOWARDS PHOSPHOLIPID BINDING
PROTEIN,RESULTING IN INHIBITION OF APOPTOSIS AND ACTIVATION OF PLATELETS.
• ACTIVATES COMPLEMENT CASCADE AND LEADS TO THROMBOSIS
2) RESISTANCE FOR ACTIVATED PROTEIN C BY COMPETING FOR PHOSPHOLIPID
BINDING

37. • ADDITIONAL RISK FACTORS THAT INCREASE
THROMBOTIC RISK IN PATIENTS WITH aPL :
• SLE
• CANCER
• SMOKING
• PREGNANCY
• ORAL CONTRACEPTIVE PILLS
• OBESITY
• IMMOBILIZATION
• HYPERTENSION
• INHERITED THROMBOPHILIA

38. CLINICAL FEATURES :
VENOUS THROMBOSIS %
DEEP VEIN THROMBOSIS 39
LIVEDO RETICULARIS 24
PULMONARY EMBOLISM 14
SUPERFICIAL
THROMBOPHLEBITIS
12
THROMBOSIS IN OTHER
SITES
11

39. ARTERIAL THROMBOSIS %
STROKE 20
LIBMANN SACH
VEGETATIONS
14
TRANSIENT ISCHEMIC
ATTACK
11
MYOCARDIAL ISCHEMIA 10
RETINAL ARTERY
THROMBOSIS
7

40. OBSTETRIC
MANIFESTATIONS
%
PRE ECLAMPISA 10
ECLAMPSIA 4
FETAL
MANIFESTATIONS
%
EARLY FETAL LOSS
<10%
35
LATE FETAL LOSS
>10%
17
PREMATURE BIRTH 11

41. NEUROLOGICAL
MANIFESTATIONS
%
MIGRAINE 20
EPILEPSY 7
CHOREA 1
HEMATOLOGIC
MANIFESTATIONS
%
THROMBOCYTOPENIA 30
AIHA 10

43. CATASTROPHIC
APLA
• IF ALL 4 CRITERIA ARE
MET-IT IS CALLED AS
DEFINITIVE
CATASTROPHIC APS
• IT HAS POOR
PROGNOSIS
CLASSIFICATION CRITERIA CATASTROPHIC APS
1)EVIDENCE OF INVOLVEMENT OF 3 OR MORE
ORGANS
2)DEVELOPMENT OF MANIFESTATIONS IN LESS THAN A
WEEK
3)CONFIRMATION BY HISTOPATHOLOGY OF SMALL
VESSEL OCCLUSION
4)LABORATORY CONFIRMATION OF PRESENCE OF
ANTIPHOSPHOLIPID ANTIBODIES

45. TREATMENT:
CIRCUMSTANCE RECOMENDATION
ASYMPTOMATIC /SLE PATIENTS WITH
HIGH RISK APL POSITIVE,WITH NO
THROMBOTIC EVENTS
LOW DOSE ASPIRIN (75 MG/DAY)
THROMBOTIC APS (VENOUS) LMWH INTIALLY
LATER BRIDGE TO WARFARIN
TARGET INR : 2.0 – 3.0
THROMBOTIC APS (ARTERIAL) MWH INTIALLY
LATER BRIDGE TO WARFARIN
TARGET INR : 3.0-4.0
OBSTETRIC APS LOW DOSE ASPIRIN +
PROPHYLACTIC LMWH
THROMBOTIC APS LOW DOSE ASPIRN +
THERAPEUTIC LMWH

46. CATASTROPHIC APS COMBINATION THERAPY OF
GLUCOCORTICOIDS + HEPARIN +
PLASMA EXCHANGE OR IV
IMMUNOGLOBULINS
AND APPROPRIATE MANGEMENT OF
TRIGGERING EVENTS
REFRACTORY CATASTROPHIC APS B-CELL DEPLETION (EG:WITH
RITUXIMAB)
OR
COMPLEMENT INHIBITION (EG: WITH
ECULIZUMAB)

47. CVT presents in a
remarkably wide spectrum
of symptoms and remains
a diagnostic and
therapeutic challenge for
clinicians.
Although cortical
blindness is most
commonly caused by
bilateral PCA occlusion, it
can be a rare initial
presentation of CVT.