Summary
A 12-month-old boy with clinical findings suggestive of homozygous familial hypercholesterolemia, who had no secondary causes of hypercholesterolemia, and whose parents had no lipid abnormalities, was reported. No abnormalities were noted in the low density lipoprotein (LDL) receptor activities of the fibroblasts from patient, parents and sibling.
These features, combined with extreme responsiveness to available therapy, are strikingly suggestive of a new clinical hypercholesterolemic syndrome with manifestations resembling homozygous familial hypercholesterolemia.
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Hamada, K., Tanaka, T., Yoshii, O. et al. Pseudohomozygous type II hyperlipoproteinemia. Jap J Human Genet 27, 259–264 (1982). https://doi.org/10.1007/BF01901321
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DOI: https://doi.org/10.1007/BF01901321