[A complex case of diabetes due to LMNA mutation]

Area of Science:

• Genetics
• Endocrinology
• Rare Diseases

Background:

• Laminopathies are rare genetic disorders stemming from mutations in lamin A/C genes.
• These diseases exhibit a wide range of symptoms, including lipodystrophic syndromes characterized by adipose tissue loss.
• Familial partial lipodystrophy, Dunnigan type, is the most common form.

Observation:

• A 55-year-old woman presented with diabetes and chronic myalgia.
• Her clinical presentation included a cushingoid appearance, lipo-atrophy, and muscle hypertrophy.
• Genetic analysis revealed a heterozygous LMNA c.82C>T, p.Arg28Trp mutation, leading to a diagnosis of complex partial familial lipodystrophy.

Findings:

• Familial partial lipodystrophic syndromes can manifest with varied phenotypes, often mimicking severe type 2 diabetes.
• Cardio-metabolic complications are a primary concern in these syndromes.
• The case highlights the LMNA c.82C>T, p.Arg28Trp mutation as a cause of this condition.

Implications:

• Diagnostic workup should include thorough investigation of neurological and cardiac symptoms, such as gait disturbances and conduction abnormalities, due to risks of sudden death.
• Genetic examination is essential for accurate diagnosis of familial partial lipodystrophy.
• Recombinant leptin therapy may be considered in select cases.