Acquired partial lipodystrophy (PLD) is an uncommon disorder of unknown
cause, usually affecting women, characterized by the loss of subcutaneous
adipose tissue of the upper half of the body, including the face. Persistent
low C3 serum levels and normal serum levels of C1q, C4, and C2, the early
reacting components of the classic pathway, are frequently found in these
patients. The presence in the patient's serum of the C3 nephritic factor,
an immunoglobulin G antibody that stabilizes the alternative C3 convertase,
suggests C3 activation via the alternative pathway.1
These complementary abnormalities may occur without renal disease.
Ocular complications of PLD have been described only in case reports.
They are characterized by the presence of yellow, drusen-like lesions at the
posterior pole and are always associated with type II mesangiocapillary glomerulonephritis.2- 4
A 38-year-old white woman with a 10-year history of progressive facial
wasting was referred 36 months earlier to the outpatient service of clinical
immunology for symptoms of arthralgia, myalgia, and morning stiffness, unsuccessfully
treated with nonsteroidal antiinflammatory drugs. Results of physical examination
showed the characteristic appearance of PLD localized to the face (Figure 1) with skin hyperpigmentation, normal
muscular tone, and trophism. There was no evidence of arthritis or signs of
Photograph of the patient showing
facial wasting and cutaneous hyperpigmentation, with no involvement of the
Laboratory examination results showed normal erythrocyte sedimentation
rate, white and red blood cell counts, levels of blood glucose (<100 mg/dL
[<5.6 mmol/L]), blood urea nitrogen (30-46 mg/dL [10.7-16.4 mmol/L]), and
serum creatinine (<1.10 mg/dL [<97.2 µmol/L]), creatinine clearance
rate (80-110 mL/min [1.3-1.8 mL/s]), and urinalysis results. Normal plasma
levels were found for muscle enzymes, thyroid hormones, adrenocorticotropic
hormone, and cortisol. All of these results remained normal after a 3½-year
follow-up examination. The patient tested negative for antinuclear autoantibodies
and positive for rheumatoid factor (serum level, 40-160 IU/mL). Serum complement
components showed very low levels of C3 (3.0-4.5 mg/dL [normal value, 80-170
mg/dL]) and normal levels of C1q, C4, and factor B. The assay for alternative
C3 nephritic factor was positive. Since no signs of renal disease, either
clinical or serological, were observed throughout the 3 years of follow-up,
a renal biopsy was not performed. Despite 1 year treatment with hydroxychloroquine,
no significant changes in joint symptoms were reported by the patient.
A routine ophthalmic examination was carried out 11 months after hydroxychloroquine
treatment. Visual acuity was 20/20 OU, the anterior segment and lachrymal
secretion did not show any pathological change, and the intraocular pressure
was normal. The fundus examination revealed a large number of drusen-like
lesions at the posterior pole and midperiphery that were round, discrete with
defined borders (some were confluent), and of different sizes, the larger
located at the posterior pole. The drusen-like lesions were more numerous
in the nasal quadrants of the retina but larger in the temporal areas. Fluorescein
angiography results demonstrated that all of the lesions had early hyperfluorescence,
which remained unchanged throughout the examination, showing the characteristics
of small hard drusen. The central fovea revealed normal pigmentation (Figure 2).
Fluorescein angiography showing
the distribution of the numerous hyperfluorescent drusen-like spots, more
numerous in the nasal quadrants of the retina but larger in the temporal areas.
The central foveae show normal pigmentation.
Color vision was normal. Visual field examination showed decreased central
sensitivity in both eyes, with an enhancement of the blind spot. Electroretinogram
results and visual evoked potentials were normal, while the electro-oculogram
results revealed a pathological result in both eyes, with an Arden index of
120. This situation remained unchanged at a 25-month follow-up.
A study was also carried out on her living relatives: 2 daughters, her
sister, her brother, and his 3 sons. None of them showed signs of the disease
or complement abnormalities.
Partial lipodystrophy is a rare disease characterized by an involvement
of the subcutaneous fat tissue. A high percentage (65%-70%) of patients with
PLD have low serum levels of C3 and normal serum levels of C1q, C4, C2, and
B factor. These findings indicate the activation of the complement cascade
through the alternative pathway, due to the presence in the serum of the nephritic
factor, an immunoglobulin G antibody that stabilizes the alternative C3 convertase,
with consequent continuous consumption of C3. This immunoglobulin G was found
to be associated with a membranoproliferative nephritis, known as type II
mesangiocapillary glomerulonephritis. This association is not constant; in
fact, it was described that patients with PLD who were positive for nephritic
factor did not develop nephropathy; on the other hand, the nephritic factor
was also found, although rarely, in the serum of subjects in good health.5
Retinal and renal lesions develop at the interface between convolute
microvessels, such as those of the choriocapillaris and glomerulus, and a
basement membrane structure. Under this aspect, the role of highly permeable
vessels in the pathogenesis of such lesions could be hypothesized. Eye involvement
is rare in PLD and has always been found in patients with renal impairment.
The case we reported is, to our knowledge, the first with ocular involvement
in PLD without impairment of renal function. Whether the nephritic factor
plays a direct role in the pathogenesis of retinal lesions is not conclusive
since an ocular examination of normal subjects with serum nephritic factor
has not been reported to our knowledge.
Although the retinal lesions do not seem to be site-threatening, an
ophthalmic examination should be performed in patients with PLD, even in the
absence of renal function impairment, to have a complete clinical picture.
Corresponding author and reprints: Pasquale Aragona, MD, PhD, Viale
Boccetta 70, I-98122 Messina, Italy (e-mail: firstname.lastname@example.org).
Aragona P, Quattrocchi P, Trombetta CJ, Ferlazzo E, Spinella R, Bonanno D. Retinal Alterations in Acquired Partial Lipodystrophy: A Case Report. Arch Ophthalmol. 2002;120(2):218-220. doi: