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Case Report: Suspicion for Systemic Lupus Erythematosus
Tennille N. Webb MD, Corrie Fletcher DO
Department of Pediatrics, Advocate Christ Medical Center
Hope Children’s Hospital
Introduction/Purpose
Systemic lupus erythematosus (SLE) has a varied
and progressive clinical course. Although
occasionally initial presentation is as straightforward
as lupus nephritis, often it is a complex picture
involving multiple vague symptoms ranging from
arthritis to psychosis. A clinician must have a
high index of suspicion for diagnosis, versed on the
symptoms, criteria for diagnosis and clinical
patterns.
This case is important because, as demonstrated by
our patient, SLE is an evolving disease and
recognizing the varied symptomotology and the
differential diagnosis in regards to these patients can
lead to sooner diagnosis and mitigation of long term
organ dysfunction and failure. There should be a high
clinical suspicion in patients presenting with such
vague and varied symptoms.
Methods
Literature review using PubMed/Ovid MEDLINE with
searches for “systemic lupus erythematosus,” “heart
AND systemic lupus erythematosus,” limited to English
language, all age child, and latest 10 years
Patient Description
Patient A is17 y.o. female with a recent history of multiple
hospital admissions presents with four days of epistaxis and
thrombocytopenia.
Medical History: Hospitalizations within the previous 6 months include:
1. Myocarditis
2. Acute disseminated encephalomyelitis
3. Dilated cardiomyopathy
4. Right-sided numbness, bilateral upper and lower extremity weakness
and pain
Medications: Acetazolamide, Carvedilol, Clonazepam, Digoxin,
Enalapril, Furosemide, Omerprazole, Prednisone and Cephalexin
Immunizations : Up-to-date Allergies: NKDA
FamHx: Non-contributory SocHx: Denies drug, etoh or tobacco use
97th%-tile
Physical Exam: Vital Signs—133/88, Weight @
(BMI 29)
Nares—Balloon packing to right nare, slow active bleeding
Mouth—no buccal or gingival petechia
Skin—Anterior chest: 4cm x 3cm area of pinpoint petechia ; Bilateral
lower extremities with petechia
Extremities—Muscle spasms witnessed with use of arms/hands
Differential Diagnosis
Hematologic
•ITP
•TTP
•Hereditary hemorrhagic
telangiectasia
•Nasal polyps
•Leukemia
•Lymphoma
Immunodeficiency
•HIV
•Wiskott-Aldrich
Imaging
Rheumatologic
•PAN
•Takayasu Arteritis
•Mixed Connective tissue
disease
•SLE
Infectious
•Endocarditis
•Disseminated Fungal
Figure 1
Figure 2
Symptom
Musculoskeletal
Arthritis, arthralgia
Constitutional
Fever (absence of infection), fatigue, weight loss
Skin
Malar (butterfly) rash, alopecia, photosensitivity, purpura,
Raynaud’s phenomenon, urticaria, vasculitis
Gastrointestinal
Nausea, vomiting, abdominal pain
Renal
Proteinuria, hematuria, nephrotic syndrome
Hematologic
Anemia, thrombocytopenia, leukopenia
Cardiac
Pericarditis, endocarditis, myocarditis
Neurologic
Seizures, psychosis, peripheral and cranial neuropathies
Pulmonary
Pulmonary hypertension, pleurisy, parenchymal disease
Figure 3
Figure 1. Malar or “butterfly” rash is hallmark of SLE
Figure 2. Discoid lupus lesions
Figure 3. Raynaud’s phenomenon
Laboratory Evaluation
Lab Test
Fixed erythema, flat or raised, over the malar eminences
2. Discoid rash
Erythematous raised patches with adherent keratotic scaling and
follicular plugging; atrophic scarring may occur
3. Photosensitivity
Exposure to UV light causes rash
4. Oral ulcers
Includes oral and nasopharyngeal, observed by physician
5. Arthritis
Nonerosive arthritis involving 2 or more peripheral joints,
characterized by tenderness, swelling, or effusion
6. Serositis
Pleuritis or pericarditis documented by EKG, rub, or evidence of
pericardial effusion
7. Renal
Proteinuria >0.5 g/d, >3+, or cellular casts
8. Neurologic
Seizures without other causes or psychosis without other cause
9. Hematologic
Hemolytic anemia, leukopenia, lymphopenia, or
thrombocytopenia in the absence of offending drugs
10. Immunologic
Anti-dsDNA, anti-Sm, anti-phospholipid
11. Antinuclear
antibodies
An abnormal titer of ANAs by immunofluorescence or an
equivalent assay at any point in time in the absence of drugs
known to induce ANAs
If 4 of these criteria are present at any time curing the course of disease, a diagnosis
of systemic lupus can be made with 98% specificity and 97% sensitivity.
Description
ANA
•Sensitive but not specific
•JIA, dermatomyositis, scleroderma, thyroid disease
Anti-dsDNA
•More specific for SLE
•Monitors disease activity
•Present in high titers during active disease
Anti-Smith
•Most specific for SLE
Anti-ribosomal P
•Found in higher percentage with psychosis
Antiphospholipid
•Thrombosis, development of chorea, AVN, seizures,
migraine headaches
Criteria for SLE
1. Malar rash
BMP: 139/4.0/105/20/12/0.9<148 Ca9.4
CBC: 9.1>11.6/35.2<4 N90% RDW 17.4 (+)spherocytes (+)lrg plts
Coags: PT: 10.1 INR:1 PTT:34
UA: protein 30mg/dl, trace leukocytes
CXR: no acute infiltrate or effusion
Echo: EF 45%, mod LV dysfunction and hypertrophy, mild effusion
MRI: diffuse patchy hyperintensity in medulla
CSF culture (neg), HIV(-), EBV(+), Mycoplasma(+)
Myocarditis panel: EBV IgG(+), Mycoplasma IgG(+), Mycoplasma
IgM (+)
ANA Panel: (+) ANA, (+) Chromatin IgG, (+)Sm/RNP IgG, (-)dsDNA,
(-)centromere, (-)Sjogrens, (-)RNP AB, (-)Jo1, (-)Scl70
Clinically, Patient A had 3 of 11 criteria for diagnosis of lupus:
pericardial effusion, +ANA/ +smooth muscle antibody, and
thrombocytopenia. She currently continues to be followed for further
progression of her neurologic complications, development of skin
manifestations, progression of possible renal disease or other clinical
symptoms and/or criteria that would confirm a diagnosis of SLE. All
cardiac medications have since been discontinued.
Clinical Symptoms of SLE
Organ System
Results
Intervention
•Heme: IVIG given
•Neuro: Neurology consulted due to increase muscle
spasms, Acetazolamide discontinued, discharged home
on Zonisamide, Clonazepam and Prednisone
•Rheum: Rheumatology consulted, ANA panel obtained,
recommended Ophthalmology exam, EKG, ECHO, and
G6PD testing before recommending starting
Hydroxychloroquine, recommended f/u in 3 weeks
•Cardio: Carvedilol, Digoxin, Enalapril and Furosemide
started, repeat echocardiograms obtained
Conclusion/Implications
• SLE is the most common rheumatic disease associated with
significant morbidity and mortality in children
• Recognize that a positive ANA occurs in many conditions other
than SLE and even in healthy individuals
• Diagnosis is based upon having 4 of the 11 clinical criteria and
laboratory evaluation
• Recognize the significance of multi-organ involvement in SLE
• Know that SLE can evolve in presentation with differing
manifestations each time
References
•Benseler, S., Silverman, E.: Systemic Lupus Erythematosus. Pediatric Clinics of North
America, Vol 52, 443-467, 2005.
•Gottlieb, B.S., Illowite, N.T.: Systemic Lupus Erythematosus in Children and Adolescents.
Pediatrics in Review, Vol 27, No9, Sept 2006.
•Klein-Gitelman, M., Miller, M,: Nelson Textbook of Pediatrics, 18th edition, Chapter 157
Systemic Lupus Erythematosus: pp1015-1018.
•Klein-Gitelman, M., Reiff, A., Silverman, E.D.: Systemic Lupus Erythematosus in
childhood. Rheumatic Disease of Clinics of North America, Vol 28, 561-577, 2002.
•Lee, P., Le, T., Ho, H., Wong, W., Lau, Y.: Recurrent major infections in juvenile-onset
systemic lupus erythematosus – a close link with long- term disease damage.
Rheumatology, Vol 46, 1290-1296, May 2007.
•Lee, T., von Scheven, E., Sandborg, C.: Systemic lupus erythematosus and
antiphospholipid syndrome in children and adolescents. Current Opinion in Rheumatology,
Vol 13venile, 415-421, 2001.
•Ravelli, A., Ruperto, N., Martini, A.: Outcome in juvenile onset systemic lupus
erythematosus. Current Opinion in Rheumatology, Vol 17, 568-573, 2005.
•Stichweh, D., Arce, E., Pascual, V.: Update on pediatric systemic lupus erythematosus.
Current Opinion in Rheumatology, Vol 16, 577-587, 2004.
•Tincani, A., Rebaioli, B., Taglietti, M., Shoenfeld, Y.: Heart involvement in systemic lupus
erythematosus, anti-phospholipid syndrome and neonatal lupus. Rheumatology, Vol 45,
iv8-iv13, 2006.
Acknowledgements
• Dr. Mohammad Homsi
• Dr. Tarek Husayni
• Dr. Rebecca McFall
• Dr. Linda Wagner-Weiner