Discussion:
This is an unusual case of a 12-year-old patient presenting with
features of acute pancreatitis. Further, the workup revealed a
multisystem involvement, which led to tests specific for SLE, which
turned out to be positive. Due to the renal involvement, a renal biopsy
was done, which revealed diffuse lupus nephritis class IV. Findings
suggestive of WD were made upon further evaluating the child.
SLE is a chronic systemic disease characterized by complex and
heterogeneous clinical presentation involving multiple organs and
tissues in the body. (5) One of the common and dire manifestations of
SLE is the involvement of the kidneys, which typically occurs three
years after and usually five years after the onset of SLE. However, in
the pediatric age group, the patients can only present with isolated
kidney manifestation, as a study conducted by Qiu et al. revealed that
the most common manifestation was proteinuria (81.36%).(6) Diagnosis
is made through laboratory findings such as proteinuria or cellular
casts. However, patients with asymptomatic disease can show
abnormalities like raised serum creatinine levels, hypoalbuminemia,
proteinuria, or sediment indicating active lupus nephritis. Active SLE
complement levels (C3, C4) are low with the presence of anti-dsDNA
autoantibody. With the help of renal biopsy, the histologic form and
stage of the disease are established. (1)
SLE commonly affects females in their pubertal age group; common
manifestations are class III and IV lupus nephritis. These findings are
consistent in our patient as our patient was 12 years-female with
diffuse lupus nephritis class IV. However, our patient presented with
features of pancreatitis, which is a rare presentation. Pancreatitis
associated with SLE is rare and has an annual incidence of 0.4 to 1.1
per 1000 patients. The pathogenic mechanism of SLE-related pancreatitis
is not well established; however, it has been associated with vascular
damage. Severe hypertension or antiphospholipid syndrome, intimal
thickening and proliferation, and immune complex deposition with
complement activation in the wall of pancreatic arteries may lead to
necrotizing vasculitis, occlusion of arteries, and arterioles by thrombi
resulting in pancreatitis. (7)
SLE Is a multisystem disease that can also involve many parts of the
eye. Ocular manifestations of SLE are common and may lead to permanent
blindness. Keratoconjunctivitis sicca is the most common manifestation.
(8) To recognize the disease early and possibly treat it, an
ophthalmological examination was done, which revealed a Kayser-Fleischer
ring, characteristic of WD. Additionally, laboratory results
demonstrated a low ceruloplasmin level and elevated urinary copper,
further supporting WD.
WD is a rare inherited autosomal recessive disorder characterized by
significant copper accumulation on various tissues and organs secondary
to the ATP7B gene mutation, leading to several clinical manifestations.
Liver dysfunction is one of the most common symptoms associated with WD.
(9) KF rings are a typical ophthalmic manifestation of WD, which are
present in almost 100% of neurologic WD and 20-30% in asymptomatic WD.
A prospective, observational study conducted in jaundiced patients or
patients with clinically suspected WD showed Pseudo-Keyser-Flesher (PKF)
rings could be present in various conditions such as Viral hepatitis,
Autoimmune hepatitis, Autoimmune hepatitis-primary biliary cholangitis
overlap (AIH-PBC), Alcohol-associated hepatitis, drug-induced liver
injury (DILI), and other conditions. (10) The presence of
autoantibodies, including ANA, ASMA, and even anti-dsDNA autoantibodies,
has been rarely reported in WD. However, its coexistence with SLE is
rare. (9) Therefore, as in our case, if liver involvement is present, it
is wiser to look for other evidence of WD.
Few cases have been reported on the coexistence of SLE and WD. One of
the cases by Xu et al. involved the diagnosis of SLE in a 24-year-old
female based on the clinical findings and laboratory results. Similar to
our case, KF rings were incidentally discovered during the ophthalmic
examination, and further investigations revealed low ceruloplasmin
levels and high 24-hour urine copper levels. (11) Similarly, a pediatric
case of a nine-year-old girl was reported by Yang Z. et al., who
presented with proteinuria, hematuria, pancytopenia, hypocomplementemia,
and positivity for multiple autoantibodies led to the diagnosis of SLE,
and a further workup of WD was sent due to elevated liver enzymes which
led to the diagnosis of the coexistence of both diseases. (9)
Treatment is challenging when there is a co-existence between SLE and WD
because penicillamine use is associated with a risk of drug-induced
lupus and, thereby, may aggravate the symptoms of SLE. (8) In such
conditions, Zinc supplementation could be the cornerstone of WD
management. (1) Therefore, our case was managed with oral zinc sulfate,
guided by several kinds of literature and suggested by a pediatric
gastroenterologist. Consequently, the patient responded very well.