presentation1
DESCRIPTION
case of connective tissue diseaseTRANSCRIPT
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CLINICAL MEET
21/12/2013
CASE OF DySPNEA
DR. GANESH SATPUTE JR III DR. D.R. MHASDE UNIT
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Case History 45 year female, R/o Nana peth, Pune Came with
c/o Progressive breathlessness since last 6 months
c/o Swelling over both lower limbs since 1 month
Breathlessness gradually increased from NYHA GRADE I to GRADE IV. It was more on recumbent position.
H/o orthopnea +H/o joint pains on and off in past,H/o myalgia and body ache.
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No h/o chest pain, palpitations cough with expectoration fever, rash or oral ulceration decreased urine output. swelling of joints or joint stiffness.
• Past history: No h/o Tuberculosis, DM, HTN, COPD in past. No history s/o rheumatic fever in childhood.
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• Family history: No h/o similar illness in family, no h/o Koch's contact.
• Personal history: No any addictions, Sleep-disturbed
• Menstrual history: H/o menopause at the age of 40 yrs. No postmenopausal bleeding.
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• GENERAL EXAMINATION:
AfebrileP- 96/min irregular, all peripheral pulses well feltNo radiofemoral delay.BP- 130/80mm Hg Pallor +Pedal edema + pitting typeNo icterus/clubbing /cyanosis/lymphadenopathy.JVP- Raised.
Raised hard nontender nodules with ulceration discharging whitish granular discharge from it present over palms , soles and digits.
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• SYSTEMIC EXAMINATION
• CVS:
Inspection: Precordium normal. Apical impulse seen Lt 5th ICS In Ant. axillary line. Palpation: Apex beat felt in Lt 5th ICS in Ant. axillary line. Left parasternal heave+ Asculatation: S1 audible, P2 loud PSM + in TA. ESM+ in PA
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• RS: B/I crepts + in IMA, IAA, ISA B/l scattered inspiratory ronchi heard all over chest.
• P/A: Soft ,nontender. Liver 2 cm palpable, nonpulsatile, No splenomegaly.
• CNS: No signifiacant abnormality.
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DIFFERENTIALS ?
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Investigations…. 24/9 25/9 27/9
Hb 8.6
TLC 8.9
PLT 225
HCT 54
MCV 91
Creat 0.9 1.2 0.9
Urea 28 40 30
Na 136 134 137
K 3.5 3.3 4.2
24/9 25/9
SGOT 65 45
SGPT 31 33
ALP 144 147
Bilirubin 0.8 0.7
Total proteins
5.9 -
Albumin 4.6 -
Globulin 1.4. -
FE 90 -
TIBC 360 -
LDH 220 -
PBS-Predominantly Normocytic, normochromic.TLC- 8,000. N75, L23,M1, E1, Platelets adequate.
Urine analysis : NAD
24/9 25/9
Calcium 10.2 9.4
Phosphorus 3.4 3.8
BSL 101
ESR 46
Uric Acid 3.6
HIV NEG.
HbsAg NEG.
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X-rays….
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ECG….
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Hand X-rays….
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X-ray skull….
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Further workup….
• USG abdomen: RK 9.3 X 3.2 cms. LK 9.2 X 4.2 cms. CMD-Good
• OGD Scopy: WNL • ANA , RA Factor, CRP, ASO sent
2D Echo : Global hyokinesia, LVEF 35% Dilated RA and RV Severe TR Dilated pulmonary artery ( 35mm) Moderate pulmonary hypertension Minimal pericardial effusion.
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• Skin opinion: Imp: ? Tophaceous gout. ? Calcinosis cutis. Adv: Surgical Biopsy & HPE.
• Biopsy of nodules sent.
• HRCT done.
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HRCT Chest….
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Further workup ….
• RA Factor: Negative
• ASO: Negative
• PTH : 45 pg/ml (10-60 pg/ml)
• TFT’s: WNL
• ANA blot sent.
ANA : Strongly POSITIVE (2.93)
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Biopsy .….
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ANA Blot….
ANA BLOT
U1RNP STRONGPOSITIVE
SM NEGATIVE
SS-A 0.8
RO-52 + Borderline
SS-B + Borderline
Scl-70 NEGATIVE
PM-Scl NEGATIVE
JO-1 NEGATIVE
Ds DNA NEGATIVE
Nucleosome NEGATIVE
Histone NEGATIVE
Total CPK: 900 IU/L
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Final diagnosis….
Case of Mixed connective tissue disease with ILD with severe Pulmonary hypertension with Corpulmonale with Calcinosis cutis
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DISCUSSION…. MCTD..
• Overlap syndrome consisting of SLE, systemic sclerosis, RA, and polymyositis
• These overlap features seldom occur concurrently• “The crux of the MCTD diagnosis is the presence of
high titers of antibodies to U1-RNP”• The first clue to diagnosing MCTD is usually a positive
ANA with a high titer speckled pattern.• Four different diagnostic criteria have been proposed
– Sharp– Kasukawa– Alarcon-Segovia– Kahn
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Major Criterias
Myositis
Pulmonary Involvement
Reynaud's phenomenon or esophageal dysmotility
Swollen hands or sclerodactyly
High anti-U1-RNP with negative anti-Sm
Diagnosis….Sharp’s criterias
Minor Criterias
Alopecia
Leucopenia
Anemia
Thrombocytopenia
Pleuritis
Pericarditis
Arthritis
Trigeminal Neuralgia
Malar RashDefinite – 4 major (including serology)Probable – 3 major or 2 major (1st 3 listed) and 2 minor; and serology
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Clinical Presentation…..
• Early Clinical FindingsMalaise, easy
fatigabilityArthralgiasMyalgiasReynaud's
phenomenonLow-grade fevers
Unusual Presentations
FUOSerositisTrigeminal
neuropathySevere polymyositisAcute arthritisAseptic meningitisDigital gangrene
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Pulmonary Manifestations….
• Pleural Effusions
• Pulmonary Hypertension
• Pleuritic Pain
• Interstitial Lung Disease (30-
50%)
• Thromboembolic Disease
• Obstructive Disease
• Pulmonary Vasculitis
The most discriminatory
lung function test is DLCO.
High-resolution CT is
the most sensitive test to
determine the presence
of ILD in MCTD.
The major cause of
death in MCTD is
Pulmonary Hypertension
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Pericardial Disease….
Pericardial InvolvementScleroderma 59%SLE 44%RA 24%MCTD 30%
MCTDAt autopsy – 56% had pericardial diseaseAsymptomatic pericardial effusion – 24-38%
ECG : abnormal in 20 % of cases .
RVH, Intraventricular conduction defects.
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Renal involvement….
• 25% of cases
• Glomerulonephritis, nephrotic syndrome, scleroderma renal crisis, amyloidosis and renal infarcts
• High titer of anti-U1RNP are relatively protective against the development diffuse proliferative GN.
• When pt do develop renal change,they usually develop membranous GN
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Other systems…
GASTROINTESTINALOccurring in 60-80 % of patientGastroesophageal reflux, dyspepsia, dysphagia.Autoimmune hepatitis
CNSTrigeminal neuropathy(MC), HeadacheAngiographic study reported a high prevalence of medium-size vessel occlusion.
HAEMATOLOGYAnemia of chronic disease,
Thrombocytopenia, autoimmune hemolytic anemia.RF: Positive in 50% of patients.
JOINTSArthritis (Polyarticular)Juxtraarticular osteopenia,erosive arthritis, digital tuft resorption
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Laboratory Findings….
High titre, speckled ANA pattern
Leucopenia, anemia, thrombocytopenia
Elevated ESR
High titre U1 RNP antibody.
Complement levels usually normal or high
Rheumatoid Factor positive in 70% of patients
Negative findings include anti-dsDNA and anti-Sm antibodies
(if positive, it may represents exclusion criteria for MCTD)
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Disease
ANA RF dsDNA
Sm Scl-70
RNP
SLE 95-99 20 50-70 30 0 30-50
RA 15-35 85 <5 0 0 10
DiffuseSSc
>90 30 0 0 40 30
MCTD
95-99 50 00 <5 0 100
Antibody Findings……
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Management ….
Immunosuppressants
Corticosteroids and cytotoxic agents, most often
cyclophosphamide, are the most frequently used.
Recommendation for management are based on
conventional treatment for SLE, PM,DM,RA and Scl
Drug therapy:CCBs
Prostaglandins
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Thank you