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1. This case discusses a 45-year-old female patient presenting with progressive breathlessness, swelling of the lower limbs, and hard nodules on the palms and soles. 2. Differential diagnoses considered include mixed connective tissue disease, lupus, scleroderma, and rheumatoid arthritis. 3. Investigations revealed a strongly positive ANA, elevated markers of inflammation, interstitial lung disease, pulmonary hypertension, and features consistent with calcinosis cutis. 4. The final diagnosis was mixed connective tissue disease with interstitial lung disease, pulmonary hypertension, and calcinosis cutis. Management involves immunosuppressants like corticosteroids and
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- 1. CLINICAL MEET 21/12/2013 CASE OF DySPNEA DR. GANESH SATPUTE JR III DR. D.R. MHASDE UNIT
- 2. 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.
- 3. 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.
- 4. • 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.
- 5. • GENERAL EXAMINATION: Afebrile P- 96/min irregular, all peripheral pulses well felt No radiofemoral delay. BP- 130/80mm Hg Pallor + Pedal edema + pitting type No icterus/clubbing /cyanosis/lymphadenopathy. JVP- Raised. Raised hard nontender nodules with ulceration discharging whitish granular discharge from it present over palms , soles and digits.
- 6. • 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
- 7. • 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.
- 10. Investigations…. 24/9 25/9 27/9 Hb TLC 8.9 PLT 25/9 10.2 9.4 225 HCT Creat 0.9 SGOT 65 45 31 33 ALP 144 147 0.9 Urea 28 40 30 Na 136 134 137 K 3.5 3.3 4.2 101 Bilirubin 0.8 0.7 - 46 Total proteins 5.9 ESR 1.2 3.4 BSL 91 Uric Acid 3.6 Albumin 4.6 - Globulin 1.4. - HIV NEG. FE 90 - TIBC 360 - LDH 220 - HbsAg PBS-Predominantly Normocytic, normochromic. TLC- 8,000. N75, L23,M1, E1, Platelets adequate. NEG. 3.8 25/9 Phosphorus 54 MCV Calcium 24/9 SGPT 8.6 24/9 Urine analysis : NAD
- 11. X-rays….
- 12. ECG….
- 13. Hand X-rays….
- 14. X-ray skull….
- 15. Further workup…. 2D Echo : Global hyokinesia, LVEF 35% Dilated RA and RV Severe TR Dilated pulmonary artery ( 35mm) Moderate pulmonary hypertension Minimal pericardial effusion. • 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
- 16. • Skin opinion: Imp: ? Tophaceous gout. ? Calcinosis cutis. Adv: Surgical Biopsy & HPE. • Biopsy of nodules sent. • HRCT done.
- 17. HRCT Chest….
- 22. Further workup …. • RA Factor: Negative • ASO: Negative • PTH : 45 pg/ml (10-60 pg/ml) • TFT’s: WNL ANA : Strongly POSITIVE (2.93) • ANA blot sent.
- 23. Biopsy .….
- 24. ANA Blot…. ANA BLOT U1RNP STRONG POSITIVE 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
- 25. Final diagnosis…. Case of Mixed connective tissue disease with ILD with severe Pulmonary hypertension with Corpulmonale with Calcinosis cutis
- 26. 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
- 27. Diagnosis….Sharp’s criterias Major Criterias Minor Criterias Myositis Pulmonary Involvement Reynaud's phenomenon or esophageal dysmotility Swollen hands or sclerodactyly High anti-U1-RNP with negative anti-Sm Definite – 4 major (including serology) Probable – 3 major or 2 major (1st 3 listed) and 2 minor; and serology Alopecia Leucopenia Anemia Thrombocytopenia Pleuritis Pericarditis Arthritis Trigeminal Neuralgia Malar Rash
- 28. Clinical Presentation….. • Early Clinical Findings Malaise, easy fatigability Arthralgias Myalgias Reynaud's phenomenon Low-grade fevers Unusual Presentations FUO Serositis Trigeminal neuropathy Severe polymyositis Acute arthritis Aseptic meningitis Digital gangrene
- 29. Pulmonary Manifestations…. • Pleural Effusions The most discriminatory • Pulmonary Hypertension lung function test is DLCO. • Pleuritic Pain • Interstitial Lung Disease (30- 50%) High-resolution CT is the most sensitive test to determine the presence of ILD in MCTD. • Thromboembolic Disease The major cause of • Obstructive Disease death in MCTD is • Pulmonary Vasculitis Pulmonary Hypertension
- 30. Pericardial Disease…. Pericardial Involvement Scleroderma 59% SLE 44% RA 24% MCTD 30% ECG : abnormal in 20 % of cases . RVH, Intraventricular conduction defects. MCTD At autopsy – 56% had pericardial disease Asymptomatic pericardial effusion – 24-38%
- 31. 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
- 32. Other systems… GASTROINTESTINAL Occurring in 60-80 % of patient Gastroesophageal reflux, dyspepsia, dysphagia. Autoimmune hepatitis JOINTS Arthritis (Polyarticular) Juxtraarticular osteopenia,erosive arthritis, digital tuft resorption HAEMATOLOGY Anemia of chronic disease, Thrombocytopenia, autoimmune hemolytic anemia. RF: Positive in 50% of patients. CNS Trigeminal neuropathy(MC), Headache Angiographic study reported a high prevalence of medium-size vessel occlusion.
- 33. 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)
- 35. 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
Editor's Notes
- #14: Extensive soft tissue calcification involving thumb b/l index n little finger region, destruction and necroosteolysis seen in left distal phalanx. Flexion deformity seen in rt proximal and distal interphalyngeal joint. Imp. Findings are consistent with connective tissue disorder/ calcinosis cutis
- #17: Multiple descrete tender hard white coloured nodules present over bilateral fingers ,great toe,
- #18: Emphysematous changes in the form of pathy areas of air trapping with few areas of centriacinar emphysema in bilateral lung fields, subtle fibrotic changes in rt middle lobe, pulmonary hypertension with cardiomegaly
- #20: Areas of fibrosis
- #24: Section studied shows tissue lined by hyperkeratotic and hyperplastic stratified squamous epithelium and subepithelium shows areas of dystrophic calcificationIMP: Calcinosis cutis
- #25: Emphysematous changes in the form of pathy areas of air trapping with few areas of centriacinar emphysema in bilateral lung fields, subtle fibrotic changes in rt middle lobe, pulmonary hypertension with cardiomegaly
- #26: Emphysematous changes in the form of pathy areas of air trapping with few areas of centriacinar emphysema in bilateral lung fields, subtle fibrotic changes in rt middle lobe, pulmonary hypertension with cardiomegaly
- #36: Emphysematous changes in the form of pathy areas of air trapping with few areas of centriacinar emphysema in bilateral lung fields, subtle fibrotic changes in rt middle lobe, pulmonary hypertension with cardiomegaly