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