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Physician's Body Misread: A Genetic Twist Unveiled
14 Dec
Summary
- Lifelong athletic identity was reframed by a rare disease diagnosis.
- Familial partial lipodystrophy causes fat loss and metabolic health risks.
- Diagnosis offers a more empathetic perspective as a physician.
A Calgary-based anesthesiologist discovered her lifelong perception of natural athleticism was due to a rare genetic disorder called familial partial lipodystrophy (FPLD). The diagnosis came at 36, after a surgeon's comment sparked her curiosity, leading to genetic testing that confirmed the LMNA gene mutation.
FPLD causes a loss of subcutaneous fat in the limbs, creating a muscular appearance, while fat accumulates in the abdomen, face, and neck. Beyond the visible changes, the condition significantly increases the risk of insulin resistance, diabetes, early heart disease, and abnormal cholesterol levels.
This revelation not only challenged her personal identity but also enhanced her empathy as a physician. She now navigates her own health concerns and better understands the complexities patients face, recognizing that a body's appearance doesn't always reflect its internal health.
