Case Report of Acquired Generalized Lipodystrophy Associated With Common Variable Immunodeficiency

Area of Science:

• Endocrinology
• Immunology
• Genetics

Background:

• Acquired generalized lipodystrophy (AGL) is a rare condition involving loss of subcutaneous adipose tissue, often linked to autoimmune diseases (~25% of cases).
• Common variable immunodeficiency (CVI) is characterized by impaired antibody production and a high prevalence of autoimmune disorders, frequently with negative autoantibodies.

Observation:

• A 24-year-old male presented with hyperglycemia, hypertriglyceridemia, hepatomegaly, and generalized fat loss, leading to an AGL diagnosis.
• Hypogammaglobulinemia was also noted, prompting a subsequent diagnosis of CVI.

Findings:

• This case represents the first documented instance of AGL occurring in a patient diagnosed with CVI.
• The co-occurrence highlights a potential, previously unrecognized association between these two conditions.

Implications:

• Acquired generalized lipodystrophy (AGL) should be considered for inclusion in the spectrum of diseases associated with common variable immunodeficiency (CVI).
• Given the similar clinical presentation to type 1 diabetes mellitus, AGL warrants consideration in the differential diagnosis for CVI patients, particularly as 1.5% of CVI patients exhibit this presentation.