A previously healthy 16-year-old African American girl presented to the clinic with alopecia and rash over her face and arms for 6 months (Figures 173-1 and 173-2). She reported pain in her knees and ankles for a year and an oral ulcer 3 months ago, which had healed. Laboratory evaluation was remarkable for a low white blood cell count at 2.4 × 1000/uL (normal 5.0–13.0 × 100/uL), hemoglobin of 10.8 g/dL (normal 11.8–16.0 g/dL), and platelet count of 109 × 1000/uL (normal 142–424 × 1000/uL). Erythrocyte sedimentation rate was elevated at 45 mm/hr (normal 0–15 mm/hr). Antinuclear antibody was positive at 1:640 with a strongly positive antidouble stranded DNA antibody confirming a diagnosis of systemic lupus erythematosus (SLE). Urinalysis did not show proteinuria to suggest renal involvement. She was treated with prednisone and hydroxychloroquine resulting in improvement in her problems.
FIGURE 173-2
New onset SLE in a 16-year-old girl (as seen in Figure 173-1) demonstrating her alopecia. Her ANA was 1:640. (Used with permission from Vidya Raman, MD.)
The true incidence of pediatric SLE is difficult to estimate since there are very few studies in the pediatric population. It is believed that approximately 15 percent of patients with SLE have onset of disease in childhood. Childhood SLE occurs in 6 to 18.9 cases per 100,000 white females, with higher prevalence in African Americans and Hispanics.1
The mean age of presentation of SLE in children is 12 to 13 years.
Discoid lupus erythematosus (DLE), which develops in up to 25 percent of adults with SLE, is less common in children.3 Patients with only DLE have a 5 to 10 percent risk of eventually developing SLE, which tends to follow a mild course.4 DLE lesions usually slowly expand with active inflammation at the periphery, and then to heal, leaving depressed central scars, atrophy, telangiectasias, and hypopigmentation.5 The female–male ratio of discoid lupus erythematosus (DLE) is 2:1.
SLE is a multisystem autoimmune disease with variable presentations. Based on current understanding, an environmental exposure, occurring in a genetically susceptible individual, results in activation of the innate and adaptive immune response resulting in production of auto-antibodies and loss of tolerance to self antigens.
Recent studies in children have revealed a central role for type I interferon in the disease pathogenesis through an amplification loop activating T and B cells and may be useful in monitoring response to therapy.6
Many of the signs and symptoms of SLE are caused by the circulating immune complexes or by the direct effects of antibodies to cells.
A genetic predisposition for SLE exists. The concordance rate in monozygotic twins is between 25 percent and 70 percent. If a mother has SLE, her daughter’s risk of developing the disease is 1:40 and her son’s risk is 1:250.
The course of SLE is one of intermittent remissions punctuated by disease flares. Organ damage often progresses over time.
Rarely, neonates may develop a lupus rash and can have complete heart block from acquired antibodies through transplacental transmission from mother if she has active SLE (Figures 173-3 and 173-4).
FIGURE 173-4
Neonatal lupus from acquired antibodies through transplacental transmission from the mother with active SLE. (Used with permission from Warner AM, Frey KA, Connolly S. Annular rash on a newborn. J Fam Pract. 2006;55(2):127-129. Reproduced with permission from Frontline Medical Communications.)
SLE is a chronic, recurrent, potentially fatal inflammatory disorder that can be difficult to diagnose. It is an autoimmune disease involving multiple organ systems that is defined clinically with associated autoantibodies directed against cell nuclei. The disease has no single diagnostic sign or marker (Table 173-1). Accurate diagnosis is important because treatment can reduce morbidity and mortality.7
SLE most often presents with a mixture of constitutional symptoms including fatigue, fever, myalgia, anorexia, nausea, and weight loss. The mean length of time between onset of symptoms and diagnosis is 5 years.
The disease is characterized by exacerbations and remissions as well as symptoms. The diagnosis of SLE is made if four or more of the manifestations mentioned in the following are either present, serially or simultaneously, in the patient at the time of presentation or were present in the past. Arthralgias, which are often the initial complaint, are usually out of proportion to physical findings. The polyarthritis is symmetric, nonerosive, and usually nondeforming. In longstanding disease, rheumatoid-like deformities with swan-neck fingers are commonly seen.
A malar or butterfly rash is fixed erythema over the cheeks and bridge of the nose sparing the nasolabial folds (Figures 173-5 and 173-6). It may also involve the chin and ears. More severe malar rashes may cause severe atrophy, scarring, and hypopigmentation.
The rash is often associated with photosensitivity to ultraviolet (UV) light.
A discoid rash consisting of erythematosus raised patches with adherent keratotic scaling and follicular plugging. Atrophic scarring may occur in older lesions.
Ulcers (usually painless) in the nose, mouth, or vagina are frequent complaints.
Pleuritis as evidenced by a convincing history of pleuritic pain or rub or evidence of pleural effusion.
Pericarditis as documented by EKG, rub, or evidence of pericardial effusion.
Renal disorder such as cellular casts or persistent proteinuria >0.5 g/d or >3+ if quantitation not performed.
Central nervous system (CNS) symptoms ranging from mild cognitive dysfunction to psychosis or seizures. Any region of CNS can be involved. Intractable headaches and difficulties with memory and reasoning are the most common features of neurologic disease in lupus patients.
Hematologic disorders such as hemolytic anemia, leukopenia (<4000/mm3 total on two or more occasions), lymphopenia (<1500/mm3 on two or more occasions), or thrombocytopenia (<100,000/mm3 in the absence of precipitating drugs).
GI symptoms may include abdominal pain, diarrhea, and vomiting. Intestinal perforation and vasculitis are important diagnoses to exclude.
Vasculitis (Figures 173-6 and 173-7) can be severe and can include retinal vasculitis.
Immunologic disorders such as a positive antiphospholipid antibody, anti-DNA, anti-Sm, or a false positive serologic test for syphilis (known to be positive for at least 6 months and confirmed by a negative treponema specific test).
An abnormal titer of antinuclear antibody at any point in time and in the absence of drugs associated with “drug-induced lupus.”
DLE (cutaneous lupus) lesions are characterized by discrete, erythematous, slightly infiltrated papule or plaques covered by a well-formed adherent scale (Figures 173-8 to 173-11). As the lesion progresses, the scale often thickens and becomes adherent. Hypopigmentation develops in the central area and hyperpigmentation develops at the active border. Resolution of the active lesion results in atrophy and scarring. When they occur in the scalp, scarring alopecia often results (Figure 173-12). If the scale on the scalp is removed, it may leave a “carpet tack sign” from follicular plugging.
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