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Zoe Chawner

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Zoe

Zoe Report 11 May 2003 15:59

I am looking for any other Chawner's and ancestors that have diabetes/insulin resistance and may possibly have the rare genetic condition that I have which can be associated with these symptoms, Familial Partial Lipodystrophy (fpld). It has a 50/50 chance of being passed down and is far more noticable in females. I have the common Lamin A/C gene mutation genetic code R482W. Info can be searched best on the internet using fpld or R482W in the search box. Description taken from research website: This lipodystrophy is characterized by gradual loss of subcutaneous fat (fat under the skin) from the upper and lower extremities during puberty with normal appearance at birth. The arms and legs appear very muscular. Veins under the skin appear prominent. Variable amount of fat is lost from the trunk. The loss of subcutaneous truncal fat is more evident anteriorly. In women, lack of fat in the buttocks (gluteal regions) is striking and they complain of 'no-hips' or 'flat hips'. In many patients (mostly women), excess fat may accumulate in the face, and neck at puberty or thereafter. The patients may develop a double chin, excess supraclavicular fat (fat above the clavicle) and a round face (cushingoid appearance). Acanthosis nigricans (dark velvety pigmentation of the skin), hirsutism (increased body hair), menstrual abnormalities, and polycystic ovaries (enlarged ovaries) are observed infrequently. The patients usually have high levels of serum triglycerides that lead to recurrent episodes of acute pancreatitis and low levels of HDL cholesterol. The onset of glucose intolerance or diabetes mellitus usually occurs after age 20. Compared with affected men, women with FPLD are particularly predisposed to develop diabetes, high levels of triglycerides, low levels of HDL cholesterol and early onset coronary artery disease and other types of atherosclerotic vascular disease. Our recent data analysis suggests that women with FPLD who have had multiple pregnancies and those with increased accumulation of fat in the non-lipodystrophic regions such as chin may be more predisposed to develop diabetes mellitus.