CLINICAL MEET
21/12/2013
CASE OF DySPNEA
DR. GANESH SATPUTE JR III DR. D.R. MHASDE UNIT
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.
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.
• 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.
• 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.
• 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
• 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.
DIFFERENTIALS ?
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.
X-rays….
ECG….
Hand X-rays….
X-ray skull….
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.
• Skin opinion: Imp: ? Tophaceous gout. ? Calcinosis cutis. Adv: Surgical Biopsy & HPE.
• Biopsy of nodules sent.
• HRCT done.
HRCT Chest….
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)
Biopsy .….
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
Final diagnosis….
Case of Mixed connective tissue disease with ILD with severe Pulmonary hypertension with Corpulmonale with Calcinosis cutis
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
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
Clinical Presentation…..
• Early Clinical FindingsMalaise, easy
fatigabilityArthralgiasMyalgiasReynaud's
phenomenonLow-grade fevers
Unusual Presentations
FUOSerositisTrigeminal
neuropathySevere polymyositisAcute arthritisAseptic meningitisDigital gangrene
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
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.
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
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
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)
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……
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
Thank you