Neonatal and Pediatric Lupus Erythematosus Workup

Updated: May 17, 2021
  • Author: Alisa N Femia, MD; Chief Editor: Lawrence K Jung, MD  more...
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Laboratory Testing

Neonatal lupus erythematosus (NLE) is related to the anti-Ro (SSA) antibody in more than 90% of patients. Occasionally, patients only have anti-La (SSB) or anti-U1RNP antibodies. These maternal autoantibodies cross the placenta and can react with various fetal tissues, causing an increased risk of acquiring NLE.

Infants with NLE should have cutaneous, cardiac, hepatobiliary, hematologic, and neurologic assessments, along with thorough physical examinations and close attention to cardiopulmonary status. Children with cutaneous NLE should be evaluated for hematologic, hepatic, and cardiac involvement.

The blood panel may reveal pancytopenia, thrombocytopenia, or leukopenia with a hemolytic anemia. Liver function tests may reveal transaminitis. Hepatomegaly may be observed.

In addition, screen the maternal serum for antinuclear, anti–double-stranded DNA, anti-SSA/Ro, anti-SSB/La, and anti–U1-RNP antibodies. Despite being positive for Ro and/or La antibodies, many mothers may be healthy and without clinical symptoms during pregnancy. Mothers with positive SSA/Ro and/or SSA/La antibodies should be counseled regarding the risk of NLE, and mothers who have given birth to an infant with NLE should be counseled regarding the elevated risk of NLE with subsequent pregnancies. Fetal cardiac monitoring is imperative for at-risk mothers. In addition, closely monitor mothers in whom systemic lupus erythematosus (SLE) is diagnosed by clinical symptoms and laboratory test results.

In a neonate with congenital heart block or thrombocytopenia, serum autoantibodies should be investigated to rule out NLE, even if a suggestive maternal history is lacking. [14] Neonatal lupus in triplets from a mother with undifferentiated connective-tissue disease evolving to SLE has been described. [31] The 3 newborns had only SSA/Ro positivity associated with asymptomatic transient neutropenia.

Children in whom SLE is suspected should undergo a serologic evaluation, including antinuclear antibody (ANA), anti-dsDNA, anti-Sm, anti-RNP, anti-Ro (SSA), and anti-La (SSB), as well as measurement of complement levels. Also test for other organ involvement, including a complete blood cell (CBC) count and tests of renal function, including a urinalysis. Consideration should be given to assessment of serum 25-hydroxyvitamin D levels given that serum vitamin D levels have been inversely correlated with SLE activity.


Cardiac Imaging Studies

Frequent ultrasonographic monitoring of the fetal heart rate during pregnancy is recommended in women with autoimmune disorders. Prenatal ultrasonography may help identify neonatal lupus erythematosus (NLE) that affects the heart. Echocardiography may reveal various types of structural deformities in the heart; combined electrocardiography and 24-hour Holter monitoring may reveal various cardiac conduction disorders, which lead to different types of heart blocks.


Skin Biopsy and Histologic Features

Skin biopsy may be useful in patients with either neonatal lupus erythematosus (NLE) or cutaneous lesions of lupus erythematosus (LE) during childhood.

Histologic examination of all LE-specific lesions of cutaneous LE show interface dermatitis with vacuolar degeneration in the basal cell layer. Moderate hyperkeratosis, follicular plugging, thickening of the basement membrane, and epidermal atrophy may also be found. In cases with an intense inflammatory infiltrate, bulla may develop and can be seen histologically.

Although not frequently necessary to make the diagnosis of NLE or pediatric cutaneous LE, immunofluorescent examination of a skin biopsy reveals a granular deposition of immunoglobulin G at the dermoepidermal junction; immunoglobulin M and C3 deposition may also be evident.