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Acquired Generalized Lipodystrophy Following Immune Thrombocytopenia

Loss of subcutaneous fat from the (A) face, (B) limbs, (C) neck, and (D) trunk.

Loss of subcutaneous fat from the (A) face, (B) limbs, (C) neck, and (D) trunk.

We describe an adult male patient with acquired generalized lipodystrophy preceded by autoimmune thrombocytopenia.

A 44-year-old man with adult-onset type I diabetes presented with 4 weeks of fat wasting in his face, neck, torso, and arms. He was hospitalized 9 months earlier for epistaxis and isolated thrombocytopenia with a presenting platelet count of 3 k/μL. Autoimmune thrombocytopenia was diagnosed and found to be refractory to twice-daily intravenous methylprednisolone, intravenous immunoglobulin 1 g/kg/d for a total of 6 noncontiguous doses, and rituximab 375 mg/m2 weekly for 4 doses. Bone marrow biopsy was normal. Hepatosplenomegaly on ultrasound was attributed to hepatic steatosis after ruling out human immunodeficiency virus and viral hepatitis. Intravenous immunoglobulin therapy was complicated by Coombs-positive hemolytic anemia with anti-A1 antibodies and treated with prednisone. Platelet count recovered after initiating eltrombopag 50 mg daily and all medications subsequently tapered off. A complete blood count after completing a taper of eltrombopag was normal: hemoglobin was 14 g/dL and platelet count was 305 k/μL. However, in the month prior to his current presentation to our service, the patient noticed an acute change in his appearance, with progressive loss of the fat of his face, arms, and torso, as well as newly refractory hyperglycemia. Physical examination demonstrated temporal wasting (Figure A) and loss of body fat (Figure B-D). Labs revealed hyperglycemia (hemoglobin A1c 8.9%) despite an insulin pump, hypertriglyceridemia (461 mg/dL), low high-density lipoprotein (25 mg/dL), and mildly elevated aspartate transaminase (99 IU/L) and alanine transaminase (199 IU/L). Acquired generalized lipodystrophy was diagnosed and the patient referred to a nearby research center for clinical study and treatment.

Acquired generalized lipodystrophy is a rare disorder causing loss of the adipose tissue in large areas of the body and metabolic abnormalities, which typically affect patients under 30 years of age.12 Patients are asymptomatic until they develop fat wasting, severe insulin resistance, hypertriglyceridemia, low-serum high-density lipoprotein, and hepatomegaly over days to weeks. The pathophysiology is unknown, though an autoimmune subtype with antibodies against adipocyte membrane antigens has been described. A review of the literature finds prior reports of patients with acquired generalized lipodystrophy and comorbid diagnoses of autoimmune conditions, including juvenile dermatomyositis, autoimmune hepatitis, Sjögren syndrome, juvenile rheumatoid arthritis, Graves disease, Hashimoto thyroiditis, autoimmune hemolytic anemia, nonthrombocytopenic purpura, vitiligo, and chronic urticaria.12345 Our case is unique in reporting a case of acquired generalized lipodystrophy associated with autoimmune thrombocytopenia, which occurred and resolved with treatment months prior to onset of acquired generalized lipodystrophy manifestations.

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-Julia Cunningham, MD, Rosa Nadal, MD, Catherine Broome, MD

This article originally appeared in the October 2017 issue of The American Journal of Medicine.

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