Frequency
Familial partial lipodystrophy is a rare disease, affecting an estimated 1 in 1 million people overall. Type 2 is the most common form, with more than 500 cases reported in the medical literature. Women tend to be diagnosed with familial partial lipodystrophy more often than men, probably because a loss of fat from the hips and limbs is more easily recognized in women, and complications such as diabetes and hypertriglyceridemia occur more commonly in women.
Causes
Familial partial lipodystrophy can be caused by mutations in several genes. Type 2 results from mutations in the LMNA gene. The other, less common forms of the disorder are caused by mutations in different genes.
LMNA and the other genes associated with familial partial lipodystrophy provide instructions for making proteins with a variety of functions, including important roles in fat storage. In particular, these proteins play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of the genes associated with familial partial lipodystrophy reduce or eliminate the function of their respective proteins, which impairs the development, structure, or function of adipocytes and makes the body unable to store and use fats properly. These abnormalities of adipose tissue alter hormone production and affect many of the body's organs. However, it is unclear why the changes cause fat to be lost in some parts of the body and stored abnormally in others.
In some people with familial partial lipodystrophy, no gene mutations have been found. Researchers are looking for additional genetic changes that can cause this disorder.
Inheritance
Most cases of familial partial lipodystrophy, including type 2, are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Rare cases of familial partial lipodystrophy appear to be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Other Names for This Condition
- Dunnigan-Kobberling syndrome
- FPL
- Kobberling-Dunnigan syndrome
- Lipodystrophy, familial partial
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Bidault G, Vatier C, Capeau J, Vigouroux C, Bereziat V. LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations. Biochem Soc Trans. 2011 Dec;39(6):1752-7. doi: 10.1042/BST20110675. Citation on PubMed
- Garg A, Agarwal AK. Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta. 2009 Jun;1791(6):507-13. doi: 10.1016/j.bbalip.2008.12.014. Epub 2009 Jan 7. Citation on PubMed or Free article on PubMed Central
- Garg A. Clinical review#: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25. doi: 10.1210/jc.2011-1159. Epub 2011 Aug 24. Citation on PubMed
- Guenantin AC, Briand N, Bidault G, Afonso P, Bereziat V, Vatier C, Lascols O, Caron-Debarle M, Capeau J, Vigouroux C. Nuclear envelope-related lipodystrophies. Semin Cell Dev Biol. 2014 May;29:148-57. doi: 10.1016/j.semcdb.2013.12.015. Epub 2013 Dec 30. Citation on PubMed
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