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Neonatal Lupus

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Synonyms of Neonatal Lupus

Disorder Subdivisions

General Discussion

Neonatal lupus is a rare autoimmune disorder that is present at birth (congenital). Affected infants often develop a characteristic red rash or skin eruption. In addition, infants with neonatal lupus may develop liver disease, a heart condition known as congenital heart block, and/or low numbers of circulating blood platelets that assist in blood clotting functions (thrombocytopenia). The symptoms associated with neonatal lupus, with the exception of congenital heart block, usually resolve within the first several months of life.

The exact cause of neonatal lupus is unknown, although researchers speculate that specific antibodies that travel from a pregnant woman to her developing fetus via the placenta play a significant role.

Neonatal lupus is not the infant form of lupus (systemic lupus erythematosus) although the skin rash resembles the one associated with lupus. Neonatal lupus is a separate disorder.

Symptoms

The most common symptom associated with neonatal lupus is a rash that consists of reddish, scaly skin lesions and resembles the rash associated with systemic lupus erythematosus. The rash associated with neonatal lupus is temporary (transient), usually developing during the first few weeks of life and clearing up at some point during the next several months. In rare cases, skin lesions may persist into childhood. The face, scalp, trunk, arms and legs are the parts of the body most often affected. Some affected infants may also exhibit an abnormal sensitivity to sunlight (photosensitivity).

Infants with neonatal lupus may also have low numbers of special red blood cells (platelets) that assist in blood clotting functions (thrombocytopenia), low levels of other circulating red blood cells (anemia), and abnormally large spleen (splenomegaly), an abnormally large liver (hepatomegaly), and a form of liver (hepatic) disease known as cholestatic hepatitis. Cholestatic hepatitis is a rare condition characterized by stoppage or reduced flow of bile from the liver (cholestasis), inflammation of the liver (hepatitis), and yellowing of the skin, mucous membranes, and whites of the eyes (jaundice). Most of the abnormalities associated with neonatal lupus resolve themselves within the first six months of an affected infant's life.

The most serious complication of neonatal lupus that may occur is the development of a heart condition known as congenital heart block. The occurrence of congenital heart block in infants with neonatal lupus is rare, but when it occurs it is a permanent condition. Congenital heart block is characterized by an interference with the transfer of nerve impulses (conduction) that control the activity of heart muscles. The severity of such conduction abnormalities may vary among affected individuals.

The normal heart has four chambers. The two upper chambers, known as atria, are separated from each other by a fibrous partition known as the atrial septum. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Valves connect the atria (left and right) to their respective ventricles. In the mild form of heart block, the two upper chambers of the heart (atria) beat normally, but the contractions of the two lower chambers (ventricles) slightly lag behind. In the more severe forms, only a half to a quarter of the atrial beats are conducted to the ventricles. In complete heart block, the atria and ventricles beat separately. In some cases, heart block may lead to blackouts (syncope), breathlessness, and/or irregular heartbeats (arrhythmias).

In rare cases, infants with neonatal lupus may develop systemic lupus erythematosus later during life.

Causes

Neonatal lupus is a rare acquired disorder that occurs when specific antibodies are passed from a pregnant woman to the developing fetus via the placenta. In most cases, it is the anti-Ro antibody, the anti-La antibody, or both.

Antibodies are produced by the body's immune system to fight foreign substances, known as antigens, in the body. Antigens include microorganisms that may potentially cause disease, toxins, and other such substances. In neonatal lupus, maternal antibodies travel to the developing fetus via the placenta and mistakenly damage fetal tissue, resulting in the various symptoms associated with neonatal lupus. However, the exact process in which maternal antibodies affect the fetus is unknown.

Mothers of infants with neonatal lupus do not necessarily have lupus themselves. Women who have the anti-Ro or anti-La antibodies may have a different rheumatic disorder such as Sjogren's syndrome. Only about three percent of babies born to mothers with lupus will have neonatal lupus. In many cases, women with these antibodies may not have any symptoms of rheumatic disease (asymptomatic) or only vague symptoms possibly suggesting rheumatic disease.

Pregnant women with the anti-Ro or anti-La antibodies do not automatically pass the antibody on to a developing fetus. In fact, only five percent of infants born to mothers with the anti-Ro antibody will develop neonatal lupus syndrome. Researchers believe that other factors, perhaps genetic or environmental, play a role in development of neonatal lupus.

Affected Populations

Neonatal lupus is a rare condition that has occurred in females slightly more often than males. Most symptoms of the disorder, except congenital heart block (which occurs rarely), are temporary (transient), usually resolving themselves within several months. Onset of neonatal lupus is at birth or within the first few months of life.

The incidence of neonatal lupus is unknown. However, the disorder is estimated to account for 80 percent of cases of congenital heart block.

Related Disorders

Symptoms of the following disorders can be similar to those of neonatal lupus. Comparisons may be useful for a differential diagnosis:

Lupus is a chronic, inflammatory autoimmune disorder affecting the connective tissue. In autoimmune disorders, the body's own immune system attacks healthy cells and tissues causing inflammation and malfunction of various organ systems. In lupus the organ systems most often involved include the skin, kidneys, blood and joints. Many different symptoms are associated with lupus, and most affected individuals do not experience all of the symptoms. In some cases, lupus may be a mild disorder affecting only a few organ systems. In other cases, it may result in serious complications. There are at least three forms of lupus: the classic form, systemic lupus erythematosus; a form that only affects the skin, discoid lupus erythematosus; and drug-induced lupus erythematosus. The term lupus is most often used to denote systemic lupus erythematosus. (For more information on this disorder, choose "Lupus" as your search term in the Rare Disease Database.)

There are several syndromes that are characterized by a skin rash that is present at birth (congenital) including Bloom syndrome, Rothmund-Thompson syndrome, congenital rubella syndrome and congenital syphyllis. These disorders usually have additional findings that distinguish them from neonatal lupus. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.).

Standard Therapies

Diagnosis
The diagnosis of neonatal lupus may be suspected based upon a thorough clinical evaluation and a variety of specialized tests. Identification of anti-Ro or anti-La antibodies in a newborn's system is used to confirm a diagnosis of neonatal lupus. Congenital heart block, which is sometimes associated with neonatal lupus, may be detected before birth (prenatally).

Treatment
The treatment of neonatal lupus is directed toward the specific symptoms that are apparent in each individual. Most symptoms associated with the disorder resolve without treatment (spontaneously) during the first several months of life. Infants diagnosed with neonatal lupus should receive a thorough evaluation to determine whether blood (hematological) or liver (hepatic) complications are also present.

Infants with neonatal lupus should also receive regular heart monitoring to determine whether they are affected by congenital heart block. In serious cases of congenital heart block (approximately 50 percent of cases), a pacemaker may need to be implanted. In less serious cases, periodic monitoring of heart function should be performed in case a pacemaker is needed later during childhood.

Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Neonatal Lupus Resources

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

References

TEXTBOOKS
Bennett JC, Plum F, eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:1480.

Behrman RE, ed. Nelson Textbook of Pediatrics, 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:676.

Frank MM, et al. Samter's Immunologic Diseases, 5th ed. Boston, MA: Little, Brown and Company; 1995:685.

Kelley WN, et al., eds. Textbook of Rheumatology. 4th ed. Philadelphia, PA: W.B. Saunders Company; 1993:175.

Champion RH, et al., eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:2436.

JOURNAL ARTICLES
Zuppa AA, et al. Neonatal lupus: different neonatal expression in siblings. Arch Pediatr. 2004;11:936-9.

Boh EE. Neonatal lupus erythromatosus. Clin Dermatol. 2004;22:125-8.

Costedoat-Chalumeau N, et al. Neonatal lupus syndrome: review of the literature. Rev Med Interne. 2003;24(10): 659-71.

Dorner T, et al. Significance of autoantibodies in neonatal lupus erythematosus. Int Arch Allergy Immunol. 2000;123:58-66.

Garcia S, et al. Neonatal lupus syndrome: the heart as a target of the immune system. An Acad Bras Cienc. 2000;72:83-89.

Corona R, et al. Neonatal lupus erythematosus. Cutis. 2000;65:379-81.

De Bandt M, et al. Outcome of pregnancies in lupus: experience at one center. Ann Med Interne. 2000;151:87-92.

Krafchik BR, Neonatal lupus erythematosus. Adv Exp Med Biol. 1999;455:23-26.

Weston WL, et al. The clinical spectrum of anti-Ro positive cutaneous neonatal lupus erythematosus. J Am Acad Dermatol. 1999;40:675-81.

Ghayad E, et al. Neonatal lupus erythematosus and atrial-ventricular block. A case report and review of the literature. J Med Liban. 1998;46:36-39.

Johansen AS, et al. Neonatal lupus syndrome. Association with complete congenital atrioventricular block. Ugeskr Laeger. 1998;160:2521-25.

Report last updated: 2008/05/10 00:00:00 GMT+0