Post on 15-Jul-2015
CASE PRESENTATION
BIODATA
P/N: Tabassum Liaqat
Age:14yrs. Gender: Female
Marital Status: Unmarried
R/O: Village Dugal, Sialkot
Occupation: Student of Class 6th
Guardian: Father, labourer
DOA: 1-06-2013
MOA:OPD
PRESENTING COMPLAINTS
Fever—1day
Burning sensation in eyes and skin on exposure to sunlight—1 week
Mouth and nose ulcers—1 week
Erythematous rash over cheeks and nose—1 month
HISTORY OF PRESENTING COMPLAINTS
Patient was in usual state of health 4 months back when she started experiencing burning sensation in both eyes and face on exposure to sunlight, accompanied with erythematous rash over nose and cheeks. It settled spontaneously over a period of 15days.
1 month back, patient started developing similar rash over her face associated with itching. 1 week back, she started complaining of similar burning sensation over face on exposure to sunlight.
It was accompanied by small ulcers on hard palate and nasal mucosa. There’s on and off history of pain both knee joints, lasting for about 2-3 days, with no aggravating factor, relieved by analgesics, it was not associated with swelling or warmth of joints.
For 1day, she had fever, high grade, without rigors and chills, relieved by medication from GP.
On interrogation, there’s H/O hairfall involving front of the scalp.
SYSTEMIC REVIEW
There’s H/O fatigue on and off. No H/O muscle aches and pain, no joint ivolvement other than knee arthralgias.
There’s no H/O seizures, headaches, confusional state or altered behavior.
There’s no H/O dyspnea, palpitation, chest pain, cough, sputum etc.
There’s no H/O abdominal pain, nausea, vomiting, diarrhea, constipation.
Theres no H/O lumbar pain, burning or painful micturition, oliguria, polyuria or hematuria.
There’s no H/O menorrhagia, dysmenorrhea etc.
PAST MEDICAL HISTORY
MENSTRUAL HISTORY
FAMILY HISTORY
PHYSICAL EXAMINATION
GENERAL PHYSICAL EXAMINATION
Patient is a young female, with erythematous rash over face involving cheek and bridge of nose an I/V cannula on right arm sitting comfortably with following vitals
BP: 100/60mmHg HR: 88/min
R/R: 18/min Temp.: A/F
O/E
Pallor: Positive L. Nodes: Not palpable
Jaundice: Negative Oedema: Not present
JVP: Not raised Cyanosis: Negative
Clubbing: Not present Thyroid:
SYSTEMIC EXAMINATION
Musculoskeletal: Swelling –ive, No visible contractures, No Redness, stretch marks. Normal range of mobility. Crepitus Not heard.
CNS: GCS 15/15
Sensory and Motor– Grossly Intact
CVS: S1+S2+0
Respiratory: Normal vesicular breathing+ No added sounds
GIT: Abdomen soft, non-tender
No vicera palpable
Bowel Sounds +ive
LAB. INVESTIGATIONS
DIAGNOSIS
SLE
Drug Erruption
Rheumatic Fever
Viral Arthritis
PROVISIONAL DIAGNOSIS
SLE
SYSTEMIC LUPUS ERYTHEMATOSUS (SLE)
INTRODUCTION
Auto-immune disorder
Multisystem microvascular inflammation
Formation of autoantibodies to nuclear antigens
Chronic with relapsing and remitting course
Varying severity from mild episodic to rapidly fulminant
EPIDEMIOLOGY
Prevalence: 1:250in african american
1:1000to 1:10000 in other populations
Incidence: 1/10 000
Female predominance: 85%
Age: 40-20yrs.
AETIOLOGY
HEREDITY: 70% -25% in identical twins Children of affected mother Daughters1:40 Sons1:250
GENETICS: HLA DR3 DR4
Deficiencies of complement genes C1q, C2,C4 and A1 B8
SEX HORMONE STATUS: female sex hormones
DRUGS: drug induced lupus with procainamide, hydralazine and isoniazid etc
UV LIGHT: triggers flares of SLE
EXPOSURE TO EBV
STRESS
PATHOGENESIS
DIAGNOSIS CRITERIA AMERICAN COLLEGE OF RHEUMATOLOGY Criterion Definition
Serositis Pleuritis or pericarditis (inflammation of the lining of the lung or heart)
Oral Ulcers Ulcers in the nose or mouth, usually painless
Arthritis Nonerosive arthritis involving two or more peripheral joints (arthritis in which the bones around the joints do not become destroyed)
Photosensitivity
Reaction to sunlight, resulting in the development of or increase in skin rash
Blood Disorder
Hemolytic anemia , leukopenia , lymphopenia or thrombocytopenia. The leukopenia and lymphopenia must be detected on two or more occasions. The thrombocytopenia must be detected in the absence of drugs known to induce it.
Renal Disorder Excessive protein in the urine (greater than 0.5 gm/day or 3+ on test sticks) and/or cellular casts (abnormal elements the urine, derived from red and/or white cells and/or kidney tubule cells)
DIAGNOSIS
Criterion Definition
Anti nuclear Antibody
Positive ANA in absence of drugs known to induce it
Immunologic Disorder
Positive anti-double stranded anti-DNA test, positive anti-Sm test, positive antiphospholipid antibody such as anticardiolipin, or false positive syphilis test (VDRL).
Neurologic Disorder
Seizures (convulsions) and/or psychosis in the absence of drugs or metabolic disturbances which are known to cause such effects
Malar RashDiscoid Rash
Rash over the cheeksRed raised patchy rash
4 or more out of 11 criteia should be met Sensitivity 85% Specificity95%
SYMPTOMS
SYMPTOMS PERCENTAGE (%)
Achy joints / arthralgia 95
Fever of more than 100 degrees F / 38 degrees C 90
Arthritis / swollen joints 90
Prolonged or extreme fatigue 81
Skin Rashes 74
Anemia 71
Kidney Involvement 50
Pain in the chest on deep breathing / pleurisy 45
Butterfly-shaped rash across the cheeks and nose 42
Sun or light sensitivity / photosensitivity 30
Hair loss 27
Abnormal blood clotting problems 20
Fingers turning white and/or blue in the cold 17
Mouth or nose ulcers 12
SYMPTOMS
DISCOID RASH:Erythematous raised patches with adherent keratotic scaling and follicular plugging
MALAR RASH:Fixed erythema, flat or raised, over the malar eminence,tending to spare the nasolabial folds
MUCOCUTANEOUS
MUCOCUTANEOUS
ALOPECIA MOUTH ULCERS
VASCULAR
SLE VASCULOPATHY Raynaud’s phenomena
Vasculitic lesions on finger tips
Livedo ReticularisPalmar and Plantar RashPigmentation
MUCULOSKELETAL Arthritis is NONEROSIVE, transient, symmetrical,
affecting small joints, seldom deforming, less severe than RA
JACCOUDS ARTHROPATHY: 5 to 10%, Rare, Reducible , non erosive deformity
MUSCULOSKELETAL Synovitis-90% patients, often the earliest sign
Osteoporosis
From SLE itself and therapy (usually steroids)
Osteonecrosis (avascular necrosis)
OCULAR
Conjunctivitis
Photophobia
Monocular blindness-transient or permanent
Sjogren’s Syndrome
Blurred vision
Infarcts secondary to retinal vasculitis
Cotton-Wool spots on retina-degeneration nerves fibers due to occlusion retinal blood vessels
PLEUROPULMONARY
Pleuritis/Pleural effusion
Infiltrates/ Discoid Atelectasis
Acute lupus pneumonitis
Restrictive Lung Disease
Intrapulmonary hemorrhage
“Shrinking lung Syndrome” reduced lung volume with raised hemidiaphragms
CARDIAC Pericarditis –in majority of patients
Libman Sacks endocarditis
Cardiac failure
Cardiac Arrythmias-common
Valvular heart disease
Coronary Artery Disease
NEUROLOGICAL Behavior/Personality changes, depression
Cerebellar Ataxia
Seizures
Stroke
Migraine
Aseptic meningitis
Transverse myelitis
Peripheral neuropathy
May be difficult to distinguish from steroid psychosis or primary psychiatric disease
RENAL Develops in up to 50% of patients
10% SLE patients go to dialysis or transplant
Hallmark clinical finding is proteinuria
Nephritis remains the most frequent cause of disease-related death.
Lupus Nephritis
• Usually asymptomatic• Gross hematuria• Nephrotic syndrome• Acute renal failure• Hypertension• End stage renal failure
WHO CLASSIFICATION OF LUPUS NEPHRITIS
Class I Normal
Class II Mesangial
IIA Minimal alteration
IIB Mesangial glomerulitis
Class III Focal and segmental proliferative glomerulonephritis
Class IV Diffuse proliferative glomerulonephritis
Class V Membranous glomerulonephritis
Class VI Glomerular sclerosis
GASTROINTESTINAL AND HEPATIC
Uncommon SLE manifestations
Severe abdominal pain syndromes in SLE often indicate mesenteric vasculitis, resembling medium vessel vasculitis (PAN)
Diverticulitis may be masked by steroids
Hepatic abnormalities more often due to therapy than to SLE itself
LAB. INVESTIGATIONS
• COMPLETE BLOOD COUNTS:Leucopenia, Lymphopenia, Thrombocytopenia, Anemia
• ESR:Raised
• CRP: Raised in lupus pleuritis or arthritis
• RFT’s: S. Urea, creatinine raised in renal involvement
• Low S.Albumin or High U.Protein to Creatinine Ratio in lupus nephritis
• AUTOANTIBODIES: Antinuclear Antibody 95% sensitive Anti ds.DNA highly specific but 60% sensitive AntiSm Antibody most sensitive but 30% sensitive AntiPhospholipid Antibody, AntiLa, AntiRo Antibodies, AntiRibosomal P Antibodies, Anti Histone Antibodies, AntiRNP Antibodies, RF
• SERUM COMPLEMENT LEVELS: Decreased
LAB. INVESTIGATIONS• URINE COMPLETE: Proteinuria , Hematuria
RBC’s with or without casts
• HISTOLOGY : Histological and Immunofluorescent abnormalities;deposition of IgG and complements is seen in renal and skin biopsies.
• X-RAY involved Joints:no erosions, periarticular osteopenia + soft tissue swelling
• CXR/ CT Chest:Interstitial lung disease, pneumonitis, pulmonary emboli, alveolar hemorrhage
• ECHOCARDIOGRAPHY: For pericardial effusion, pulmonary hypertension and Libman-Sacks Endocaditis
• CT AND MRI BRAIN: To detect cerebral atrophy, infarts and haemorrhage and lesions in white matter.
MANAGEMENT
PATIENT EDUCATION
Avoiding direct sunlight, and using strong UVA/UVB sunblock lotion can also be effective in preventing photosensitivity problems.
Weight loss is also recommended in overweight and obese patients especially with joint involvement
Names of drugs aggravating flares of SLE
Avoidance of physical and emotional stress
Pain management and therapeutic exercises
Avoidance of exposure to infection
Regular medical and laboratory follow up
Marital and pregnancy couselling
MANAGEMENT
NSAIDS:
Used in standard doses in mild arthralgias, arhrithis, fever, fatigue and serositis
CORTICOSTEROIDS:
Single I/M injection of long-acting steroids OR
Short courses of oral steroids in severe flares of arthritis, pleuritis and pericarditis
Long-term oral steroids: 40mg-60mg of prednisone in renal cerebral or haematological involvement Danazol in thrombocytopenia
DRUG THERAPY
ANTIMALARIALS:
Hydoxychloroquine200mg-400mg/day to max. of 6.5mg/kg/day for skin and joint involvement, and to reduce flares
IMMUNOSUPRESSIVE DRUGS:In cases resistant to steroids, Cyclophosphamide with lupus nephritis. Azathioprine, Mycophenolate mofetil. Belimumab FDA approved for treating cases resistant to standard therapies.
ANTICOUGULANTS:Warfarin in AntiPL AB +ive patients with compatible clinical events. LMW Heparin+Aspirin in pregnant patients with multiple abortions
COURSE AND PROGNOSIS Generally ten year survival is85%
Increased risk of malignancies like lymphoma, lung and cervical cancer.
%5 increased risk of MI
Mortality in SLE shows bimodal pattern
In early years: Opputunistic Infections, Active SLE, Renal and Cerebral involvement
In lateryears: Chronic Inflammation , Atherosclerosis
Should receive Influenza vaccine every year, and Pneumococcal vaccine every five years
Morbidity due to avascular necrosis of bones
PREGNANCY AND SLE
Fertility is usually normal except in severe disease
Recurrent abortions can occur
Exacerbations can occur during pregnancy and postpartum
Treament should be continued, hypertension controlled
Patients with AntiRo and AntiLa antibodies have2% risk of giving birth to babies with neonatal lupus syndrome
REFERENCES
Current Medical Diagnosis And Treatment 2013
Kumar And Clarks Clinical Medicine
http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus
http://www.rheumatology.org/
http://www.us.elsevierhealth.com/Medicine/Rheumatology/book/Systemic-Lupus-Erythematosus/
Davidson’s Textbook Of Medicine
Oxford handbook of Clinical Medicine