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Not an ounce of fat on her - and extreme emaciation in patient with advanced cancer

TGL is a 20 year old woman; she appears to be very muscular, with little or no subcutaneous adipose tissue and under-developed breasts. Over the last few years her abdomen has become more protuberant, and her liver is palpably enlarged. Blood tests revealed significant fasting hypertriglyceridaemia (plasma concentration of triacylglycerol 450 - 520 mmol /L on various occasions compared with a desirable range < 1.7 mmol /L). CAT scanning shows that she has very little subcutaneous or intra-abdominal adipose tissue.

pedigreeShe was born at term after an unremarkable pregnancy, but even at birth she appeared abnormally muscular, with very little subcutaneous adipose tissue. Her younger brother is similarly affected, as are two distant cousins.

What conclusions can you draw from her pedigree?

See the answer