{"id":745,"date":"2024-05-01T16:17:36","date_gmt":"2024-05-01T16:17:36","guid":{"rendered":"https:\/\/www.chiesimedical.co.uk\/patient\/?page_id=745"},"modified":"2024-10-15T14:58:15","modified_gmt":"2024-10-15T14:58:15","slug":"lipodystrophy","status":"publish","type":"page","link":"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/lipodystrophy\/","title":{"rendered":"Lipodystrophy"},"content":{"rendered":"\n
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Alpha-mannosidosis<\/h2>\n <\/div>\n <\/a>\n \n \n
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Fabry disease<\/h2>\n <\/div>\n <\/a>\n \n \n
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Nephropathic cystinosis <\/h2>\n <\/div>\n <\/a>\n \n \n
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Beta-thalassaemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Leber hereditary optic neuropathy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Homozygous familial hypercholesterolemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Lipodystrophy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Epidermolysis bullosa<\/h2>\n <\/div>\n <\/a>\n <\/div>\n\n\n\n

Lipodystrophy<\/h2>\n\n\n\n

Lipodystrophy is an ultra-rare condition that results in the abnormal distribution of fat throughout the body. It can be inherited and passed down from parents or it can occur as a young adult when triggered by various environmental factors, including certain medications, autoimmune disease or after a viral infection.1,2<\/sup><\/p>\n\n\n\n

Changes in various genes can cause lipodystrophy.<\/em>3<\/sup> Lipodystrophy can be divided into subtypes based on how much fat is lost. Generalised lipodystrophy, or total loss, is defined as no fat throughout the body. Partial lipodystrophy, or partial loss, is defined as a loss of fat in some areas and an accumulation of fat in other areas.1<\/sup><\/p>\n\n\n\n

It is estimated that between 1.3 and 4.7 people in every million worldwide are affected by lipodystrophy.4<\/sup><\/p>\n\n\n\n

Signs and symptoms of lipodystrophy:1,2<\/sup><\/h3>\n\n\n\n
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Altered appearance \u2013 either from no fat or altered distribution of fat<\/p>\n <\/div>\n \n

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Enlargement of muscles, which can lead to athletic appearance <\/p>\n <\/div>\n \n

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Extreme hunger<\/p>\n <\/div>\n \n

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Skin changes including hyperpigmentation (darkening) of the skin<\/p>\n <\/div>\n \n

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Diabetes and other severe insulin resistance disorders<\/p>\n <\/div>\n \n

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Build-up of fat in the liver <\/p>\n <\/div>\n \n

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Mental health issues<\/p>\n <\/div>\n \n

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Polycystic ovarian syndrome in women<\/p>\n <\/div>\n \n

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Hypertriglyceridemia, a high level of fats in the blood<\/p>\n <\/div>\n <\/div>\n\n\n\n\n

Lipodystrophy can be diagnosed based on clinical assessment or blood tests.1<\/sup> Lipodystrophy passed down from parents can also be diagnosed using a genetic test to look for changes in the genes responsible for the disease.1,2<\/sup><\/p>\n\n\n\n

It is important to note that those living with lipodystrophy may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of lipodystrophy, please speak to a healthcare professional as soon as possible to get appropriate advice.<\/p>\n\n\n\n

Further support and resources<\/h3>\n\n\n\n

There are several organisations and charities across the UK that aim to raise awareness for patients with rare diseases. Many provide a supportive community in which individuals and their families can both seek and offer support to others facing similar challenges.<\/p>\n\n\n\n

For resources to support you with managing your condition:<\/p>\n\n\n\n