Genetic or acquired
People can inherit lipodystrophy from their parents or it can be acquired later, often after an immune condition. Signs and symptoms appear usually in childhood or adolescence.1
An ultra-rare, incurable condition that can reduce
life expectancy.
People can inherit lipodystrophy from their parents or it can be acquired later, often after an immune condition. Signs and symptoms appear usually in childhood or adolescence.1
This little known condition affects approximately 1-4 people per million globally.1 Many patients are diagnosed late in the course of their disease, when the physical symptoms may have become more severe and multi-organ damage may be irreversible.1
Lack of body fat results in a loss of leptin production, an important hormone that helps the body function properly. It can lead to severe, life-threatening metabolic problems, organ failure and premature death.1,2,3,4 It is associated with other serious conditions, such as pancreatitis, liver disease, early onset severe diabetes, cardiovascular disease, and can cause severe organ damage if uncontrolled.5
Lipodystrophy is incurable and can severely impair quality of life including emotional and social consequences.2,3,4
REFERENCES
1. Akinci, B., et al., Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey. J Clin Endocrinol Metab, 2016. 101(7): p. 2759-67.
2. Dhankar, P., et al., Estimating Quality of Life of Patients with Lipodystrophy. Value in Health, 2015. 18(3): A292.
3. Chiquette, E., et al. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndromes, 2017. 10: p.375-383.
4. Brown, R.J., et al., The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. J Clin Endocrinol Metab, 2016. 101(12): p. 4500-4511.
5. Kelesidis, T., et al., Narrative Review: The Role of Leptin in Human Physiology: Emerging Clinical Applications. Ann Intern Med, 2010. 152(2): p.93–100.
AMYT/ALL/005
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