1. Lupus in children and teens
Lupus Education Day
October 29, 2011
Bethany Marston, MD
Rheumatology and Pediatric Rheumatology
University of Rochester Medical Center

2. Children get lupus too Accounts for ~15% of all lupus patients.
More common in girls than boys.
More common in Asian-, African-American, and Hispanic than white American children.
Rare in children under 5; more common in adolescents.
May have more severe disease at onset and a more aggressive course than in adults.

3. How does lupus present in children?
Common initial presentations:
Unexplained fevers or prolonged general illness without explanation
Swollen lymph nodes
Changes in blood counts:
Low platelets
Low white blood cells
Anemia
Rashes, skin changes, or ulcers
Classic malar “butterfly” rash is only seen in up to ½ of patients.
Discoid rashes are relatively rare, but are more likely to progress to systemic disease.
Joint pain, swelling, or stiffness
Often in the hands and wrists but can affect other joints too.

4. How does lupus present in children?
Other initial presentations:
Kidney disease
Though occurs in up to 80% of patients eventually.
Neurologic symptoms
Seizures, psychosis, movement problems, etc.
Some neurologic symptoms occur in up to 20 or 30% of pts, usually within the first year.
Blood clots
Antiphospholipid antibodies are relatively common.
Other
Heart disease
Lung disease
Organ enlargement

5. Diagnosis of lupus in children
Similar to clinical criteria used in adults. Most patients can be diagnosed by history, exam, and lab testing.
Not uncommon to have “partial” presentations in children, with unclear initial diagnoses. These may progress over time.
Younger age at diagnosis (esp. before puberty) may imply more severe disease and worse prognosis.
Symptoms:
Photosensitivity
Malar rash
Discoid rash
Oral ulcers
Arthritis
Pleurisy or pericarditis,
Seizures or psychosis
Raynaud’s phenomenon
Hair loss
Lab tests:
Proteinuria, hematuria, other urine abnormalities
Low white blood cells, low platelets, hemolytic anemia
Positive ANA
Positive anti-Smith or anti-dsDNA
Anti-Ro, anti-La, anti-RNP, anti-histone
Coombs test
Low complements
Elevated inflammatory markers

6. What else could it be? Depends on the presenting features.
Leukemia, lymphoma, or other malignancy
Infections
Juvenile arthritis
Can present with polyarticular joint symptoms. Many children with juvenile arthritis have a positive ANA.
Organ-specific autoimmunity
Thyroid disease
Idiopathic thrombocytopenia (low platelets)
Many other possibilities depending on presentation.

7. What causes lupus in children?
Genetics affect risk
Children with close relatives who have lupus are at higher risk, but no genetic test predicts disease perfectly. Risk increases with more affected relatives.
Environmental exposures?
Medications:
Minocycline (an antibiotic often used for acne in adolescents) is a well-known cause of positive ANA and lupus-like syndromes. Symptoms often resolve after discontinuation.
Antiseizure medications, antihypertensive (blood-pressure), and several other medications can have similar effects, though are less commonly used in children and teens.
Stimulants prescribed for ADHD can cause Raynaud’s phenomenon or can make it worse.

8. Treatment of lupus in children
Generally similar to that of adults.
Many patients require corticosteroids (e.g. prednisone or SoluMedrol) to control symptoms, especially early.
Mild lupus
Often responds to hydroxychloroquine (Plaquenil).
May benefit from NSAIDs (ibuprofen, naproxen, etc.) for musculoskeletal symptoms.
Moderate lupus
May require the addition of azathioprine (Imuran) or mycophenolate (CellCept). These are often used for hematologic or renal involvement of the disease.
Severe lupus
May be treated with cyclophosphamide (Cytoxan) or sometimes rituximab (Rituxan), for involvement of the central nervous system or for severe kidney or hematologic disease.

9. Special treatment considerations in children
May be approached more aggressively.
Corticosteroids in children
(prednisone, prednisolone, Medrol, SoluMedrol)
Growth effects
Body image
Cyclophosphamide
Fertility? Cancer risks?
Rituximab
Future immune function, vaccine effectiveness
Other medication issues

10. Some challenges in pediatric lupus
Family involvement
Medications
Monitoring and office visits
Stress, family dynamics, financial strain
School accommodations
Medication
Academics
Gym class and athletics
Absences

11. Transition to adulthood
Often very challenging.
Adolescents are “invincible.”
Change of primary care physician and specialists.
Change of physical location (for college or job).
Change of insurance coverage.
Balancing adult responsibilities with demands of managing a chronic illness.
Family changes, relationships, and pregnancy.

12. Some patient stories
These are real patients. Some identifying information may have been changed.

13. B was a 16 year old white young woman.
Developed a rash on her face in mid-spring.
Started to feel progressively ill in summer, with abdominal pain, decreased appetite, fatigue, dizziness, fevers, hair loss, and puffiness.
Was diagnosed with lupus in August and treated for skin, joint, and kidney involvement.
Positive ANA, anti-dsDNA, anti-Smith, antiphospholipid antibodies, low complements, and hematuria and proteinuria.
Complicated by a blood clot in her abdomen, found several weeks later.
Lupus in teens is often similar to that in adults, with many of the same clinical features.

14. K was a 9 year old African American girl.
Started having nosebleeds in the winter.
After several ED and doctor visits, was found to have very low platelets.
Further blood and urine testing showed many signs of lupus:
positive ANA, anti-dsDNA, anti-Ro, anti-La, low complement levels, and proteinuria.
Initially did well, but treatment recently has been complicated by pronounced weight gain due to steroids.
Diagnosis sometimes isn’t made immediately.
Family challenges can complicate treatment and recovery.
Steroid side effects can be extremely challenging for early and mid-adolescents.

15. R was an 11 year old Asian boy.
Developed a diffuse rash, high blood pressure, and blood and protein in his urine. Admitted and diagnosed with lupus with nephritis.
Positive ANA, anti-dsDNA, anti-RNP, anti-Smith, antiphospholipid antibodies, very low complements, variable low white blood cells, red blood cells, and platelets, abnormal kidney function (Cr), and urinary blood and protein.
Treated with steroids and Cytoxan with good response. Maintenance has been with hydroxychloroquine and mycophenolate.
Course has been complicated by multiple blood clots.
Presentation in pre-adolescent patients, especially boys, can be severe and can require very aggressive therapy.
Antiphospholipid antibodies and blood clots can be devastating complications if not recognized.

16. G was a 15 year old girl.
Developed joint pain (hands, wrists, and knees) and swelling with morning stiffness. Also had general fatigue and felt cold.
ANA positive.
Taking minocycline for acne.
Symptoms have resolved after discontinuation of the medication and 6 months of hydroxychloroquine (Plaquenil).
Recognition of medications implicated in drug-induced lupus is important for appropriate management.

17. M was a 17 year old young woman.
Diagnosed with polyarticular juvenile arthritis at about age 15
noted to have a positive ANA and incidental positive anti-dsDNA.
Treated for arthritis with methotrexate. Had an allergic reaction to hydroxychloroquine.
2 yrs later, developed rapidly worsening arthritis, new mouth sores, and then a sudden onset movement disorder.
Symptoms improved with high dose steroids.
She has since remained well on mycophenolate for 4 years.
Lupus in children and teens can evolve over time, and can be quite rapidly progressive, but can also go into remission for long periods of time.
It’s important to make sure she transitions successfully to an adult care team and that all future providers know about her diagnosis and history.

18. Questions? Pediatric Rheumatology at Golisano Children’s Hospital
University of Rochester Medical Center