The aetiology of lipoedema is unknown. Lipoedema is an oestrogen-regulated condition with onset usually at Puberty in almost 78% of women. Few studies have suggested onset of lipoedema can also happen during period of hormonal changes e.g pregnancy or menopause. There has been a link to positive family history as well suggesting lipoedema is linked to a genetic component and has been described in up to 60% of cases.
There may be an underestimation of the real distribution of the disease and Child et al., 2010 suggested a minimum value of 1:72.000 within the general population. There is a lack of current referrals and also a high rate of misdiagnosis which is usually confused with other clinical entities including obesity and lymphedema.
Some men have also been reported with lipedema mostly having concomitant conditions associated with higher oestrogen and lower relative testosterone levels, such as male hypogonadism and liver disease. Studies have reported that children can also be affected. The researchers are currently looking for genetic variants in multiple phenotyped families with lipoedema to better understand the disease process and provide better diagnostic tools and delivery of targeted treatment options.