Table 1

Age, sex, and serum lipids of patients with homozygous and severe heterozygous FH at the time of diagnosis. The mean (SD) values in the remaining 75 heterozygotes are also shown

PatientAge (years)SexPhenotypeAt diagnosis (mmol/l)
TCTGHDL-CLDL-C
128FHomozygous17.50.721.0416.1
21-151 26FHomozygous170.90.915.7
312FHomozygous28.71.720.6527.3
426MHomozygous24.40.70.923.2
532MHomozygous22.30.90.721.2
615FHomozygous171.51.315
770FSevere heterozygous1-150 18.11.91.216
861FSevere heterozygous17.41.1115.9
962MSevere heterozygous193.50.916.5
10–8451.6 (14)47M/ 28FHeterozygous10.4 (1.8)1.8 (1.7)1.16 (0.26)8.5 (2.0)
  • HDL-C, high density lipoprotein cholesterol; LDL-C, low density lipoprotein cholesterol; TC, total cholesterol; TG, triglyceride.

  • 1-150 TC >17 mmol/l.

  • 1-151 Patient No 2 was reported previously.13