Familial combined hyperlipidemia with tuberous and tendinous xanthomas: A case report

ABSTRACT

Familial combined hyperlipidemia, otherwise known as type IIb hyperlipoproteinemia or multiple lipoprotein-type hyperlipidemia is an inherited disorder of high serum cholesterol or high blood triglycerides. This disease is genetic and inherited, although the specific defective genes have not been identified. The person's cholesterol or triglyceride become elevated during the teenage years and continue to be high throughout life. The types of elevated lipoproteins may vary between affected family members. Its clinical manifestations include lipid disposition on the skin or tendons called "xanthomas" as well as on the arteries. People with this condition have an increased risk of cardiovascular disease so that it is essential to recognize early this type of disorder. We report a case of a 37 year-old male who presented with a bilateral yellowish to reddish nodules on the elbows, knees, ankles, malleoili, ventral aspect of both hands, fingers, feet and toes, metacarpophalangeal & proximal interphalangeal joints, back and buttocks of six years duration with an elevated levels.