Karyn Cerqueira manages rare Berardinelli-Seip syndrome

Karyn Cerqueira, a 29-year-old resident of Rio de Janeiro, lives with congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome. This rare medical condition is characterized by an almost total absence of subcutaneous body fat.

Diagnosed during her first year of life, the condition prevents the body from properly storing adipose tissue. Because fat cells are essential for chemical equilibrium and hormone production, such as leptin, the lack of adipose tissue causes the body to redirect excess fat to organs and non-adipose tissues, including the liver, pancreas, and skeletal muscles. This can lead to insulin resistance, elevated triglycerides, and fatty liver.

Cerqueira relies on the specialized hormone therapy metreleptina (brand name Myalept) to manage severe metabolic complications. However, she has recently expressed concerns regarding the high costs and financial instability associated with importing the necessary medication into Brazil.