VARIED PRESENTATIONS OF AN UNCOMMON DISORDER. Dr Hemanth H P DNB Internal Medicine resident Department of Internal Medicine NH-MSH
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1 VARIED PRESENTATIONS OF AN UNCOMMON DISORDER Dr Hemanth H P DNB Internal Medicine resident Department of Internal Medicine NH-MSH
2 Aim and Introduction 3 cases which depict involvement of different systems, which are representative of a disease with wide spectrum of clinical presentation Early diagnosis and changing treatment Limitations of our understanding of this disease
3 CASE 1 NAME: Dr D AGE: 31yr SEX: Female OCCUPATION: Doctor ADDRESS: Hyderabad
4 Chief complaint c/o sudden onset severe pain in the center of lower chest and upper abdomen
5 Past history Two months ago : History of neck pain of 2 weeks duration, evaluated at ESI hospital Hyderabad, USG and FNAC of neck lymph nodes. FNAC: Granulomatous disease Mantoux test : Negative ON ATT (HRZE ) since 72 days
6 Personal history OCCUPATION : Doctor DIET : Mixed APPETITE: Good SLEEP: Adequate BOWEL AND BLADDER: Regular and normal HABITS: Nil OBSTETRIC HISTORY: Normal cycles, not conceived
7 Examination: vitals Temperature Pulse rate Blood pressure Respiratory rate Spo2 A febrile 98 bpm regular all peripheral pulse were normal 110/76 mm of Hg 112/80 mm of Hg 16 cpm 99% in room air
8 Systemic examination ABDOMEN Soft, non tender, no organomegaly, bowel sounds + Cardiovascular system Apex beat : normal, S1 S2 heard normally, no added sounds, no murmurs Respiratory system Central trachea, normal rate, vesicular sounds heard, no added sounds CNS Conscious oriented, no focal neurological deficits MUSCULO SKELETAL Normal
9 Clinical diagnosis? Young lady on intensive phase of empirical ATT for?lymph node Tuberculosis, now presented with acute severe chest and abdominal pain? Esophagitis? Esophageal spasms? Acute coronary syndrome? Aortic dissection? Acute pancreatitis? Abdominal koch s
10 ECG CHEST X RAY
11 Investigations CBC TROPONIN I ESR RFT Normal Negative 67 mm/hr Normal LFT Prot-7.2 Bili Alb-3.0 Glob -4.2 A/G-0.71 INR SERUM AMYLASE and LIPASE USG ABDOMEN Normal Normal Normal
12 NO ANSWER YET!!! Young lady on intensive phase of empirical ATT for?lymph node Tuberculosis, now presented with acute severe chest and abdominal pain, normal clinical and laboratory evaluation Patient continued to have pain(more abdominal)
13 CT images
14 Descending thoracic aorta
15 Left ICA wall thickening
16 CT diagnosis Type B Dissection of arch of aorta extending to suprarenal aorta and left common carotid thickening
17 Differentials with CT Type B aortic dissection, extending from distal arch of aorta to suprarenal aorta?tubercular AORTITIS?TAKAYASU s?syphilitic AORTITIS
18 Relevant investigations TB QUANTIFERON GOLD VDRL ANA ELISA (by IF) ANA PROFILE PET CT Positive Negative Negative Negative Next slides
19 FDG PET CT images
20 Diagnosis and treatment TAKAYASU S AORTITIS ±TUBERCULAR AORTITIS TOCILIZUMAB 400mg iv + tapering Prednisolone Anti-platelet Ecosprin 75mg Continuation phase of ATT continued Follow up: No complaints doing well
21 CASE 2 NAME: Ms LB AGE : 21 yrs SEX: Female OCCUPATION: Desk job ADDRESS: Davangere Karnataka
22 Chief complaints Presented to OPD with history of Language disturbance since one month(word finding and impaired fluency) Right distal upper limb weakness since 2 weeks
23 Nothing significant Past history
24 Personal history OCCUPATION : Desk job DIET : Mixed APPETITE: Good SLEEP: Adequate BOWEL AND BLADDER: Regular and normal HABITS: Nil MENSTRUAL HISTORY: irregular menstrual cycles
25 Examination: vitals TEMPERATURE Respiratory Rate PR and other Peripheral pulse examination Blood Pressure SPO2 A febrile 16 cycles per minute Left radial-pulse is absent Right radial-normal 98 bpm Subclavian- normal L. Carotid- Reduced L. Brachial- Reduced Femoral- Normal Popliteal- Normal ATA-Normal DPA-Normal PTA-Normal 118/70 mm of Hg in right upper limb 90/56 mm of Hg in left upper limb 124/70 mm of Hg in lower limbs 99% in room air
26 Systemic examination: CNS Conscious obeying complex commands LANGUAGE CRANIAL NERVES MOTOR SENSORY CORDINATION GAIT CORTICAL SIGNS SKULL and SPINE Impaired fluency Impaired categorical naming Preserved: comprehension, repetition, reading Intact Power: Right hand grip weak DTR: 2+ Decreased pin prick in extensor aspect of right forearm Normal Normal Normal Normal
27 Other systems Respiratory system Cardiovascular system Abdomen Musculoskeletal system Normal vesicular sounds, no added sounds JVP normal S1 S2 heard, no added sounds or murmurs No palpable organomegaly non tender Normal
28 Clinical diagnosis Young 21 yr lady with trans-cortical motor aphasia
29 CBC Hb 10.5g% TC 13.3 PLT -554 ESR RFT 40 mm/hr Normal LFT Prot 8.6g/dl BILI- N ALB-3.5 GLOB-5.1 A/G-0.69 HOMOCYSTEINE mmol/l (normal ) VITAMIN B 12 BETA MICROGLOBULIN LIPID PROFILE ECG 2D ECHO USG ABDOMEN 430 pg/ml 3.05 mg/l (normal) Normal Normal Normal PCOD, Cholelithiasis
30 MRI brain images DWI
31 MRI brain images continued T1 Arch thickening FAT SUPRESSED T1 sequence showing left CCA thickening with enhancement
32 Diagnosis and treatment Left ICA watershed territory infarct Etiology: Takayasu arteritis Treatment : LMWH Antiplatets MMF 500mg OD Steroids(Methylpred 8mg OD) Follow up: Improved limb power and speech
33 CASE 3 NAME: Ms VB AGE: 16yrs SEX: Female OCCUPATION: studying PUC ADDRESS:hosadurga taluk,chitradurga
34 Chief complaints h/o headache, body ache and on and off vague pain abdomen since 1.5 yrs Referred to our hospital for hypertension and persistence of symptoms
35 Past history She was treated at local hospital on multiple occasions Visited Bangalore with complain of pain abdomen, found to have hypertension left renal artery stenosis (otherwise normal MR angiogram) equivocal mantoux test normal chest x ray ESR 67 mm 1 st hr She was started on ATT, Prednisolone 40mg and antihypertensives. Visited our hospital after 3 weeks of antihypertensive medications and ATT
36 Personal history OCCUPATION : studying PUC DIET : Mixed APPETITE: Good SLEEP: Adequate BOWEL AND BLADDER: Regular and normal HABITS: Nil MENSTRUAL HISTORY: regular menstrual cycles
37 Examination: vitals Temperature A febrile Pulse rate Blood pressure Respiratory rate 88 beats per min regular, all peripheral pulse were normal 150/86 mm of Hg in UL 154/84 mm of Hg in LL 16 cycles per minute SPO2 99% in room air
38 Systemic examination ABDOMEN Soft, non tender, no organomegaly, normal bowel sounds, Left renal artery bruit Cardiovascular system Apex beat : normal, S1 S2 heard normally, no added sounds, no murmurs Respiratory system Central trachea, normal rate, vesicular sounds heard, no added sounds CNS Conscious oriented, no focal neurological deficits MUSCULO SKELETAL Normal
39 Differentials? Young lady with reno-vascular hypertension and unexplained systemic symptoms Etiology?? Fibro muscular Dysplasia Local compression effect Atherosclerotic Renal Artery Stenoses
40 At this stage a MDT was held : Angiogram was reviewed Nephrologist, Vascular surgeons and urologist opined for renal artery stenting vs Nephrectomy
41 In view of unexplained systemic symptoms and poorly responding secondary hypertension, high ESR and CRP (70 mm 1 st hr and 84mg/dl) PET CT was done to look for probable vasculitis etiology
42 FDG PET CT Uptake in the wall of abdominal aorta and left renal artery, characteristic of VASCULITIS (Meller s grade 3).
43 Treatment 3 doses of pulse cyclophosphamide (1g) and methylprednisolone On follow up: decreased requirement of HTN medications was started with MTX 7.5mg and Folic acid
44 Follow up contd.., Subsequently : single anti HTN and Tab Azathioprine 50mg OD (off steroids) Doppler showed improved renal blood flow Currently mother of 10m old baby SHE WAS SAVED FROM NEPHRECTOMY/ATT
45 Review of literature Definition Indian scenario Diagnostic criteria Limitation of our understanding
46 Pulseless disease /Aortitis syndrome/ Aortic arch arteritis /Nonspecific aorto-arteritis Definition: Takayasu s arteritis is a form of large-vessel vasculitis that primarily affects the aorta and its main branches
47 Diagnostic criteria ACR 1990!!! Will this help for early clinical diagnosis?
48 Indian scenario Largest study by CMC Vellore (531 pts) The mean age of onset :25.6±11.1 years, 77.9% were females Never responded to treatment :15 (5.9%) patients. There were 2 fatalities. Hypertension was the commonest mode of presentation (51.3%) 16% of patients had constitutional symptoms of fever weight loss and arthralgia. Most common: Type V in 55.7% and IV in 27.3%
49 Limitations of our understanding Pulse-less disease? Search for bruit!! Disease of young women? Beware of non specific symptoms Role of PET CT? Is it only steroids? CRP and ESR as a markers of inflammation? Is TB a etiology or association??
50 Pulse-less disease? Search for bruit!! Pulselessness is a feature of advanced phase, characterised by fibrosis Bruit : requires >60% vessel narrowing subjective and patient factors
51 Disease of young women? The female-to-male ratio is 8:1 to 10:1, with 2/3 rd of patients presenting between 10 and 20 years Case reports of as young as 3yrs
52 Beware of non specific symptoms
53 CRP and ESR as a markers of inflammation? CRP and ESR are supportive markers for diagnosis Studies have shown that ESR and CRP don t correlate with disease activity Tocilizumab is anti IL-6, so no role of CRP Newer markers under evaluation: serum amyloid protein and PTX 13
54 Role of PET CT? CT angio good for mural changes FDG-PETCT can differentiate between TA/GCA/PAN Meller grading is diagnostic (II and III) Sensitivity: 92% and specificity: 100% for diagnosis Bertanga et al use PETCT for treatment monitoring 4m after steroid treatment, found it useful
55 Is it only steroids? Treatment of TA consists of two parts: induction and maintenance of remission and management of arterial complications. Acute general Rx: High-dose glucocorticoids are first-line therapy (intravenous steroids) Prednisone (40-60 mg PO daily or 1 mg/kg/day) can be used for 3 months or 50% require second agent: Tocilizumab Methotrexate Mycophenolate mofetil Leflunomide Azathioprine Anti-TNF agents Cyclophosphamide
56 Is TB a etiology or association?? The etiopathogenesis of TA is still poorly understood, but an autoimmune basis is widely suggested. Probably genetic and environmental factors play a role. Arnaud et al failed to detect MT in arterial lesions of either active or inactive TA. Aggarwal et al showed that patients with TA have heightened humoral response to mycobacterial antigens(hsp).
57 Take home message High degree of suspicion and early diagnosis Beware CRP and ESR might be misleading Baseline FDG PETCT is a must Treatment is beyond steroids and it s long term More than 2/3 rd may require revascularisation procedure Role of TB unanswered!!!
58 THANK YOU
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