ANA negative-Systemic Lupus Erythematosus (SLE) - though rare, it does exists
CASE REPORT
ANA negative-Systemic Lupus Erythematosus (SLE) - though rare, it does exists: A
case report
Pratik B. Sheth1*, Bharti Patel2, Pooja Koyani3
1,2,3
Department of D.V.L., P.D.U. Govt. Medical College, and Hospital, Rajkot
ABSTRACT
Systemic lupus erythematosus (SLE) is a typical autoimmune disease that's characterized by various autoantibodies
to nuclear and cytoplasmic antigens. The presence of antinuclear antibodies (ANA) in serum is generally considered
a decisive diagnostic sign of SLE. However, a small subset of SLE patients who had the typical clinical features of
SLE was reported to show persistently negative ANA tests. We report a case of 35 year old female who presented
with malar rash, discoid rash, oral ulcerations, photosensitivity, anaemia, albuminuria, altered renal function tests and
a positive extractable nuclear antigen (ENA) profile along with asymptomatic abnormal electrocardiographic
changes. Histo-pathological changes were consistent with clinical diagnosis of SLE. However serum antinuclear
antibody (ANA) test was negative. Patient was treated with systemic corticosteroids along with other adjuvant
treatment.
Keywords: Antinuclear antibody, Systemic lupus erythematosus, ANA negative lupus
INTRODUCTION
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder that is characterized by
an autoantibody response to nuclear and
cytoplasmic antigens and with protean clinical
presentations. [1, 2] The presence of antinuclear
antibodies (ANA) in serum is generally considered a
decisive diagnostic test for SLE. The concept of
ANA-negative lupus was first mooted by Koller et
al. in 1976, with their description of five patients
who were ANA-negative despite having clinical
features consistent with SLE. [3] Anti-nuclear
antibody (ANA) negative systemic lupus
erythematosus (SLE) occurs in about 4-13% of SLE
cases. [4]Technical factors or prozone effects have
been described as the possible reasons for this. [2]
ANA negative SLE seems to be a subgroup of SLE
that is infrequently recognized. [5] We report a case
of 35 year old female diagnosed as ANA negative
SLE on the basis of ARA criteria.
CASE REPORT
A 35-year-old female presented with recurrent
painful oral ulcerations and multiple reddish scaly
lesions over face, abdomen and extremities since
one and half years. There was associated history of
photosensitivity, hair fall, recurrent fever and weight
loss. There was no history of joint pain, difficulty in
breathing or chest pain. Clinical examination
revealed cicatricial alopecia over scalp, malar rash
over face, multiple ulcers over hard palate and
buccal mucosa, haemorrhagic crusting over lips,
discoid rash over trunk, vasculitic lesions with
*Corresponding Author
Dr. Pratik B. Sheth,
Department of D.V.L., P.D.U.
Govt. Medical College & Hospital,
Rajkot
Email: shethpratik612@gmail.com
170 Int J Res Med. 2014; 3(2);170-172
exfoliated skin over palms and soles and genital
erosion over labia majora. Vitals were normal.
Investigations showed microcytic, hypochromic
anemia, mild leukocytosis, raised ESR (78 mm/ 1st
hour), albuminuria, mildly elevated blood urea and
serum creatinine levels. Liver function tests were
normal. LE cell phenomenon was positive. Serum
antinuclear antibody (ANA) test was negative.
Serum anti SS-A, anti-snRNP/Sm, anti Ro-52, antids-DNA, anti-nucleosome and anti-Sm antibody
tests were positive (3+). An X-ray chest was
normal. Ultrasonography of the abdomen revealed
fatty liver with collapsed gall bladder. ECG showed
ST depression and T wave inversion in V3 to V6.
Skin biopsy showed basal cell liquifactive
degeneration in the epidermis while there was
patchy and perinuclearmononuclear inflammatory
infiltrate and melanophages in the upper dermis.
Patient was treated with systemic corticosteroids
along with other adjuvant treatment.
Figure 1: Photograph showing malar rash,
haemorrhagic crusting over lips, erythematous
scaly nodules and plaques over face and palms.
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p ISSN: 2320-2734
ANA negative-Systemic Lupus Erythematosus (SLE) - though rare, it does exists
Figure 2: Photograph showing multiple ulcers
over hard palate along with crusting over lips.
Figure 3: LE cell phenomenon-Positive
Figure 4: Histopathology shows basal cell
liquifactive degeneration in the epidermis along
with patchy & perivascular mononuclear
inflammatory infiltrate and melanophages in the
upper dermis.
DISCUSSION
The presence of ANA is one of the criteria for the
diagnosis of SLE. In 5-10% of cases of SLE, ANA
cannot be demonstrated although the other ARA
criteria are fulfilled. These cases may eventually
become ANA positive.[6] The age of onset and the
female predominance are the same for ANAnegative SLE as for ANA-positive SLE.[2, 8] One
explanation for the ANA-negative finding is
technical inaccuracy. However the increasing use of
human epithelial (HEp-2) substrate has increased
the sensitivity of ANA assays and as a result, the
perceived incidence of ANA-negative SLE has
decreased. [2, 9, 10] Another cause of ANA-negative
findings is that ANA is present, but its bound in the
form of immune complexes. This has been
described in five patients with lupus nephritis whose
ANAs, which wereprimarily reactive with DNA,
were not detected in the serum by indirect
immunofluorescence until the ANAs were
dissociated from circulating immune complexes.[11]
Loss of ANA through the kidney in a patient with
171 Int J Res Med. 2014; 3(2);170-172
profuse proteinuria has been reported as another
possibility. In that case, the tests for ANA became
positive upon clinical recovery.[12] Diagnosis of SLE
is usually made if any four or more of the eleven
criteria are present.[5, 7] In the present case eight
criteria were present in the form of malar rash,
discoid rash, oral ulcerations, photosensitivity,
anaemia, albuminuria, altered renal function tests
and a positive extractable nuclear antigen (ENA)
profile along with asymptomatic abnormal
electrocardiographic
changes.
Cutaneous
involvement is usually the predominant feature of
antinuclear antibody negative SLE.[5] In our case,
cutaneous involvement was marked involving scalp,
face, trunk, extremities including palms and soles
along with negative test for antinuclear
antibodies(ANA). In case of strong clinical
suspicion one must not always rely only on the
screening tests, as ANA negative lupus though rare
does exists.
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