JA 2011 NATIONAL CONFERENCEOTHER PEDIATRIC RHEUMATIC DISEASES

Natasha M. Ruth, MD, MSMedical University of South CarolinaDivision of Pediatric RheumatologyFriday, July 8, 2011

Objectives: Review clinical features (symptoms) of:

Systemic Lupus Erythematosus (SLE) Kawasaki’s Disease Henoch Schonlein Purpura Wegener’s Granulomatosus

Briefly discuss treatment for diseases listed above.

What is Lupus? Autoimmune disease Etiology is unknown

combination of genetics (heredity), environment, and hormones is likely involved

Autoantibodies Causes the immune system to attack the

body’s own tissue and organs including: joints, kidneys, heart, lungs, brain, blood and

skin

How common is Lupus? At least 1.5 million Americans have lupus.

The actual number may be higher; however, there have been no large-scale studies to show the actual number of people in the U.S. living with lupus.

It is believed that 5 million people throughout the world have a form of lupus.

Lupus strikes mostly women of childbearing age (15-44). However, men, children, and teenagers develop lupus, too.

Women of color are 2-3 times more likely to develop lupus.

People of all races and ethnic groups can develop lupus.

More than 16,000 new cases of lupus are reported annually across the country.

Types of Lupus Systemic Lupus Erythematosus (SLE) Discoid Lupus Drug-Induced Lupus Neonatal Lupus

Types of Lupus

Systemic Lupus Erythematosus (SLE)

How is SLE diagnosed? Many symptoms of SLE mimic other

diseases Symptoms may come and go and are

often vague History, PE and laboratory evaluation

Systemic Lupus Erythematosus

Malar Rash, photosensitive

Mouth ulcers in a patient with SLE

Early vasculitic lesions over the tips of the toes in a patient with active SLE

Gangrene of the toe in a patient with SLE and vasculitis

Digital angiitis in a patient with SLE

Raynaud’s Phenomenon

Raynaud’s Phenomenon Exaggerated vascular response to

cold temperature or emotional stress

ACR Slide Collection

Laboratory Evaluation Anti-nuclear antibody test (ANA) Other antibodies

Double-stranded DNA antibodies Smith antibodies RNP antibodies (SSA) Ro antibodies (SSB) La antibodies

Childhood Onset LupusA Unique Subgroup

Approximately one fourth of all systemic lupus cases start during childhood

Most cases occur after age 5; peak incidence during late childhood and adolescence

Cassidy and Petty,4th edition

Childhood Onset LupusA Unique Subgroup

Females are affected more than males, particularly after puberty

0-9 yo: F:M is 4:3 10-14 yo: F:M is 4:1 15-19 yo: F:M is 5:1

Kidney disease and central nervous system dysfunction are more common in childhood onset SLE

Cassidy and Petty,4th edition

Lupus Maintenance THE IDEAL LUPUS PILL

Anti-inflammatory Immunosuppressive Anti-thrombotic Cholesterol Lowering Steroid-sparing Prevents Osteoporosis Cheap

McCune et al, New Therapies in SLE,Snowmass, 2005

Fever>5 days Limbic sparing conjuctival injection (can also get anterior

uveitis) Red, chapped, or cracked lips Red mucous membranes in the mouth Strawberry tongue, white coating on the tongue or

prominent red bumps on the back of the tongue Red palms of the hands and the soles of the feet Peeling (desquamation) palms and soles (later in the

illness); peeling may begin around the nails, groin. Rash which may take many forms, non-specific,

polymorphic, non-itchy Swollen lymph nodes (frequently only one lymph node is

swollen, and is usually on one side), particularly in the neck area >1.5cm).

Joint pain and swelling, frequently symmetrical Irritability

Kawasaki’s Disease

Most Concerning Complication Coronary Artery Aneurysms

Noted on echocardiogram

Phases Acute (10 - 14 days)

Febrile phase Subacute (2 - 4 weeks)

↑PLT, Coronary aneurysms Convalescent (months - years)

Recovery phase

Disease Course

SKIN AND MUCOUS MEMBRANE

STRAWBERRY TONGUE

SKIN DESQUAMATION

SKIN DESQUAMATION,

HAND

EDEMA FEET

Treatment IVIG Aspirin Corticosteroids and chemotherapeutics

for severe cases

Henoch Schonlein Purpura (HSP) The most common vasculitis of

childhood.

Henoch Schonlein Purpura (HSP) Inflammation of small blood vessels

Deposition of immune complexes (IgA) in vessel walls

Affects arterioles, capillaries, and post capillary venules; especially those in the skin, gut, and kidney.

Clinical Manifestations of HSPSkin Involvement Classically described as “palpable

purpura”; commonly also petechial.

Typically the rash doesn’t itch, but early in the course there can be an urticarial component.

Tends to occur on buttocks, lower extremities.

Described as gravity/pressure dependent.

Clinical Manifestations of HSPJoint Involvement Characterized by pain, swelling, and

decreased range of motion of joints; tends to be peri-articular.

HSP most commonly affects knees/ankles, although wrist, elbow, finger, toe involvement also common.

May also see subcutaneous non-pitting edema, especially on dorsum of hands/feet, periorbitally.

Clinical Manifestations of HSPGI Involvement

Diffuse abdominal pain/tenderness, can be severe and colicky.

Due to bowel wall edema/bleeding.

May also see hematemesis/melena.

Clinical Manifestations of HSPRenal Involvement

Blood in urine Protein in urine High blood pressure Kidney insufficiency

Treatment Time Corticosteroids for gastrointestinal

involvement Chemotherapeutics for severe disease

Wegener’s Granulomatosis Inflammation of small blood vessels

leading to necrosis and granuloma formation of upper, lower respiratory tracts and kidneys

Clinical Presentation Oto-rhino-laryngologic Pulmonary Renal Ocular Cutaneous Musculoskeletal GI GU Cardiac Nervous System

Wegener’s granulomatosis Incidence ?

5 year incidence was 3.2 cases per 100,000 Disease onset before 20 yo accounted for

3.3%, giving an incidence in that age group of 0.1 cases per 100,000

Mean age of onset 15.4 years No clear sex predominance in peds (M>F in

adults)

Cotch MF and Hoffman GS et al, A & R, 39: 87-92, 1996

Wegener’s granulomatosis Sinus involvement with inflammation of nasal

and tracheal cartilage Lung disease

Cough, shortness of breath, coughing up blood Nodular pulmonary infiltrates

Eye problems: blurred vision, eye pain, conjunctivitis, episcleritis,

Hearing problems: persistent otitis media, hearing loss

Joint and muscle pain Kidney disease

May lead to kidney failure Skin disease

May resemble HSP Can be ulcerative, vesicular, purpular or nodular

Wegener’s granulomatosis

Chest radiograph findings

Pulmonary nodules, cavitation

Consolidation, necrosis

Clinical manifestationsRenal involvement

Kidney Disease in 70-85% Usually preceded by non-kidney related

ssymptoms for months Urine abnormal revealing blood and protein Variable onset and course

Sometimes indolent (progression over months to years)

Sometimes rapidly progressive (ESRD within days to weeks)

Wegener’s granulomatosis

Diagnosis Requires typical changes on biopsy (lung,

skin or kidney) Characteristic clinical presentation with

antibodies directed at neutrophil cytoplasmic antigens (cANCAs)

Wegener’s granulomatosis Treatment

Steroids Other chemotherapeutic agents

Juvenile Dermatomyositis

Epidemiology Bimodal peak 5-14 years, 45-64 years Incidence

1-3.2/million, Caucasian 7.7/million, African-American

Pelkonen et al, J Rheum, 1994Symmons et al, Br J Rhem, 1995

Inflammatory Muscle Disease

Proximal muscle weakness climbing stairs-“bus driver Dx” combing hair Gower’s sign neck flexor weakness

Muscle tenderness Symmetrical polyarthritis

Rashes of JDM

Periorbital erythema, edema, eyelid capillary telangiectasia

Gottron’s papules/Gottron’s sign

The heliotrope is a plant of the genus Heliotropium

Nailfold capillary changes in JDM

Gastrointestinal Involvement

Decreased esophageal motility Esophageal reflux Ulceration, perforation, hemorrhage

Treatment Prednisone Methotrexate IVIG Chemotherapeutic agents for severe

cases

QUESTIONS?