Late-onset acquired generalized lipodystrophy with muscle involvement

Area of Science:

• Endocrinology
• Rare Diseases
• Neuromuscular Disorders

Background:

• Acquired generalized lipodystrophy (ALG) is a rare condition marked by adipose tissue loss and metabolic complications.
• Late-onset ALG, especially in individuals over 65, is exceptionally uncommon, with limited documented cases.
• Muscle involvement has not been previously associated with ALG.

Observation:

• A 78-year-old woman presented with a 6-year history of progressive loss of subcutaneous adipose tissue.
• The patient developed multiple metabolic disorders, including hypertension, hypertriglyceridemia, hypothyroidism, hepatic steatosis, and diabetes mellitus.
• Other potential causes of cachexia were systematically excluded through comprehensive investigations.

Findings:

• Despite normal muscle biopsy and strength tests, the patient exhibited persistently elevated creatinine kinase levels.
• Electromyography revealed a myopathic pattern, suggesting muscle involvement concurrent with lipodystrophy.
• This represents the first reported instance of muscle involvement in a patient with late-onset acquired generalized lipodystrophy.

Implications:

• This case expands the clinical spectrum of acquired generalized lipodystrophy to include potential neuromuscular complications.
• It underscores the importance of considering rare endocrine-metabolic disorders in the elderly presenting with unexplained cachexia and metabolic derangements.
• Further research is warranted to elucidate the pathophysiology linking lipodystrophy and myopathy in this rare condition.