Case Report: Suspicion for Systemic Lupus Erythematosus

Tennille N. Webb MD, Corrie Fletcher DODepartment of Pediatrics, Advocate Christ Medical Center

Hope Children’s Hospital

Case Report: Suspicion for Systemic Lupus Erythematosus

Tennille N. Webb MD, Corrie Fletcher DODepartment of Pediatrics, Advocate Christ Medical Center

Hope Children’s Hospital

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.

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

Figure 1. Malar or “butterfly” rash is hallmark of SLEFigure 2. Discoid lupus lesionsFigure 3. Raynaud’s phenomenon

Introduction/Purpose

Methods

Acknowledgements

Differential Diagnosis

• 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

Clinical Symptoms of SLE

Criteria for SLE

Patient DescriptionPatient 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. Myocarditis2. Acute disseminated encephalomyelitis3. Dilated cardiomyopathy4. 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: NKDAFamHx: Non-contributory SocHx: Denies drug, etoh or tobacco use

Physical Exam: Vital Signs—133/88, Weight @ 97th%-tile (BMI 29)Nares—Balloon packing to right nare, slow active bleeding Mouth—no buccal or gingival petechiaSkin—Anterior chest: 4cm x 3cm area of pinpoint petechia ; Bilateral lower extremities with petechiaExtremities—Muscle spasms witnessed with use of arms/hands

Hematologic• ITP• TTP• Hereditary hemorrhagic telangiectasia• Nasal polyps• Leukemia• Lymphoma

Immunodeficiency• HIV• Wiskott-Aldrich

Rheumatologic• PAN• Takayasu Arteritis• Mixed Connective tissue

disease• SLE

Infectious• Endocarditis• Disseminated Fungal

Imaging

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

ResultsBMP: 139/4.0/105/20/12/0.9<148 Ca9.4CBC: 9.1>11.6/35.2<4 N90% RDW 17.4 (+)spherocytes (+)lrg pltsCoags: PT: 10.1 INR:1 PTT:34UA: protein 30mg/dl, trace leukocytesCXR: no acute infiltrate or effusionEcho: EF 45%, mod LV dysfunction and hypertrophy, mild effusionMRI: diffuse patchy hyperintensity in medullaCSF 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.

Conclusion/Implications

• 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, 18 th 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.

• Dr. Mohammad Homsi• Dr. Tarek Husayni• Dr. Rebecca McFall• Dr. Linda Wagner-Weiner

Organ System 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

1. Malar rash 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.

Lab Test 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

Laboratory Evaluation

Figure 1 Figure 2

Figure 3