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 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), which may initially trigger the development of the rash. Although many infants develop skin symptoms at birth or a few weeks of birth, sometimes the rash may not develop until 2-5 months later.
The most serious complication of neonatal lupus is 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 usually a permanent condition and can potentially be life-threatening. 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 infants.
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 neonatal lupus, complete heart block usually develops.
Some infants may also develop disease of the heart muscle (cardiomyopathy), which can occur in association with thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers (endocardial fibroelastosis). Less often, additional cardiac abnormalities have been reported including inflammation of the myocardium, which is the middle layer of the heart wall, a condition known as myocarditis. In severe cases, life-threatening complications such as heart failure or sudden cardiac arrest can potentially develop.
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), low levels of certain white blood cells (neutropenia), 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). Fortunately anything more than transient elevation of the liver enzymes with no associated symptoms is the most common of the liver abnormalities. Again, most of these abnormalities resolve themselves within the first six months of an affected infant’s life.
Although rare, some infants with neonatal lupus may have an abnormally large head (macrocephaly). Macrocephaly is defined as a condition in which the circumference of the head is larger than would be expected based upon a child’s age and gender. Some of these infants and children may also develop hydrocephalus, a condition characterized by excessive accumulation of cerebrospinal fluid in the skull that can cause pressure on the tissues of the brain.
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/SSA antibody, the anti-La/SSB antibody, or both. In rare cases, the skin rash associated with neonatal lupus has been associated with another autoantibody that reacts against another type of ribonucleoprotein (the test is called anti-RNP). Other symptoms such as congenital heart block have not occurred in these infants.
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. During pregnancy, antibodies travel across the placenta from the mother to the bloodstream of the developing fetus. This is a normal, important process because the fetus cannot make antibodies on its own. In neonatal lupus, certain antibodies known as autoantibodies also cross over the placenta. Autoantibodies are antibodies that mistakenly damage healthy tissue. Autoantibodies are produced in individuals with autoimmune disorders such as lupus, Sjogren’s syndrome, and other such disorders. These autoantibodies attack healthy fetal tissue, resulting in the various symptoms associated with neonatal lupus. The exact underlying process by which maternal autoantibodies affect the fetus is not fully understood.
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 or rheumatoid arthritis. Only about two 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 or may be diagnosed with an autoimmune disorder only after a diagnosis of neonatal lupus in their child. It is important to note however, that if a mother has had one child with heart block, the chances of her having another rise about 10 fold.
Pregnant women with the anti-Ro or anti-La antibodies all do pass the antibody on to a developing fetus but, as stated above, only one in 50 offspring will develop neonatal lupus syndrome. Because the majority of women with these disorders have children who do not develop neonatal lupus, researchers believe that other factors, most likely genetic or environmental ones, are necessary for the development of the disorder.
Neonatal lupus is a rare condition that has occurred slightly more in females than males but is far less female gender dominant than systemic lupus erythematosus. Most symptoms of the disorder, except congenital heart block (which occurs rarely), are temporary (transient), usually resolving themselves within several months. Onset of the rash is at birth or within the first few months of life.
The exact incidence is unknown, but neonatal lupus is estimated to occur in 1 in 15,000 live births. The disorder is estimated to account for greater than 85% of cases of congenital heart block in which there are no structural abnormalities of the heart.
The diagnosis of neonatal lupus may be suspected based upon a thorough clinical evaluation, a detailed patient and family history, 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 at or before birth (prenatally). Echocardiography, an exam that uses reflected sound waves to create a picture of the heart, can be performed to help assess the function of the heart and diagnose heart block.
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.
Protection from sunlight (e.g. sunscreen and protective clothing) is recommended for infants initially. Mild topical steroids may be used to treat skin symptoms but in most cases no treatment is needed.
Infants with neonatal lupus should also receive regular heart monitoring to determine whether they are affected by congenital heart block. However, if there have been no signs of a heart problem during pregnancy or at birth, those with other manifestations of neonatal lupus do not require continuous cardiac evaluation. Many infants will require a pacemaker to be implanted. In infants with less severe heart disease, periodic monitoring of heart function should be performed in case a pacemaker is needed later during childhood. Other treatment is symptomatic and supportive.
Systemic steroids that contain fluorine (fluorinated steroids) have been used during pregnancy to treat fetuses identified with cardiac disease before birth (in utero). This has shown some benefit in specific instances when incomplete heart block is present. However, some studies into fluorinated steroids have shown little to no benefit. More research is necessary to determine the long-term safety and effectiveness of this potential therapy.
Some studies have shown that the anti-malarial drug, hydroxychloroquine, may lower the risk or prevent recurrence of cardiac disease in families who have had a previously affected child.
Intravenous immunoglobulin has shown some effectiveness in treating cardiomyopathy potentially associated with neonatal lupus, both in utero and after birth.
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