Familial hypobetalipoproteinemia associated with hypothyroidism

A 55-year-old Japanese woman with familial hypobetalipoproteinemia associated with hypothyroidism was admitted to the hospital because of orthopnea and congestive heart failure. Thyroid function testing revealed hypothyroidism, but she exhibited low levels of serum cholesterol (111 mg/dl) and apolipoprotein (apo) B (48.5 mg/dl). No abnormal bands were detected with gradient sodium dodecyl sulfate-polyacrylamide gel electrophoresis of very low density lipoprotein, low density lipoprotein and high density lipoprotein followed by immunoblotting with anti apo B polyclonal antibody. In this case, apo B structural abnormality could not be identified.