Acquired Partial Lipodystrophy Associated With Hypocomplementemia

Ceyhun Dizdarer, MD, Sema Kalkan, MD, Tugrul Ozcan, MD, Demet Tumay, MD, Safiye Aktas, MD

Disclosures

Lab Med. 2005;36(9):546-549. 

In This Article

Case Report

A 12-year-old boy presented with a history of progressive loss of fat for the last 2 years. He was a product of a non-consanguineous marriage, born at term with a birth weight of 3 kg. His development was normal and the child was asymptomatic until 10 years of age when progressive thinning of face was first noted. There was no history of fever, loss of appetite, polyuria, polydypsia, or chronic diarrhea. He had been evaluated for tuberculosis and malabsorption syndromes. There was no history of similar cases in the family. Clinical examination was unremarkable except for a marked symmetrical atrophy of fat over buccal region and temples (Figures 1 and 2). His weight, height, triceps skinfold, and subscapular skinfold thickness were 35 kg, 141cm, 3.37 mm, 4.37 mm, respectively. There was no hepatomegaly. Laboratory evaluation revealed normal levels of hemoglobin, serum electrolytes, blood urea, fasting and postprandial blood sugar, liver, and the thyroid function tests ( Table 2 ). First phase insulin response (FPIR) in intravenous glucose tolerance test: (1'+3') was 109 mU/mL with 6.93 value for K; fasting glucose/insulin ration (Go/Io) was 13.70; homeostatic model assessment (HOMA) was 1.80. The lipid profile was also normal with serum total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and total triglyceride levels of 149 mg/dL, 41mg/dL, 18 mg/dL, and 90 mg/dL, respectively. The Mantoux test was negative, and urinalysis revealed no abnormality. Autoantibodies were negative. Plasma leptin level was 5 mg/mL for BMI: 20.29 kg/m2. Plasma complement 3 (C3) level was reduced to 21 mg/dL. On skin biopsy, there was a granular accumulation of C3 in the basement membrane (Figure 3). A diagnosis of partial lipodystrophy was considered because of gradual onset loss of subcutaneous fat from the face, neck, trunk, and upper extremities occurring during childhood (essential criterion), low serum C3 associated with accumulation of C3 in the basement membrane, and absence of insulin resistance and metabolic complications.[2] Since the patient's main concern was the facial appearance, he was referred to a plastic surgeon. A graft surgery was advised, which was, however, refused by the child's parents.

Facial appearance of patient at 6 years of age.

Facial appearance of patient at 12 years of age showing loss of buccal fat, neck, trunk, and upper extremities' subcutaneous fat.

Immunofluorescence micrograph from skin biopsy demonstrating granular accumulation of C3 along the basement membrane.

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