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