[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address 54.211.82.105. Please contact the publisher to request reinstatement.
[Skip to Content Landing]
Clinicopathologic Reports, Case Reports, and Small Case Series
February 2002

Retinal Alterations in Acquired Partial Lipodystrophy: A Case Report

Arch Ophthalmol. 2002;120(2):218-220. doi:

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.24

Report of a Case

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 visceral involvement.

Figure 1.
Photograph of the patient showing
facial wasting and cutaneous hyperpigmentation, with no involvement of the
shoulders.

Photograph of the patient showing facial wasting and cutaneous hyperpigmentation, with no involvement of the shoulders.

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).

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.

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.

Comment

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: p_aragona@hotmail.com).

References
1.
Sisson  JPGWest  RJFallows  J  et al.  The complement abnormalities of lipodystrophy. N Engl J Med. 1976;294461- 465Article
2.
Davis  TMHoldright  DRSchulemberg  WETurner  RCJoplin  GF Retinal pigment epithelial change and partial lipodystrophy. Postgrad Med J. 1988;64871- 874Article
3.
O' Brien  CDuvall-Young  JBrown  MShort  CBone  M Electrophysiology of type II mesangiocapillary glomerulonephritis with associated fundus abnormalities. Br J Ophtalmol. 1993;77778- 780Article
4.
Trabucchi  GSannace  CIntroini  UBrancato  R Partial lipodystophy with associated fundus abnormalities: an optical coherence tomography study. Br J Ophthalmol. 1998;82- 326
5.
Wilson  CBYamamoto  TWard  DM Renal diseases. Stites  DPStobo  JDWells  YVedsBasic and Clinical Immunology New York, NY Appleton & Lange1987;495- 515
×