INSTRUCTION

Examine this patient's hands.

SALIENT FEATURES

History

Family history of hyperlipidaemia and coronary artery disease.

Examination

Yellowish-orange discolorations over the palmar and digital creases.

Proceed as follows:

· Look for the following signs:

- Xanthelasmata around the eyes.

- Tuboeruptive xanthomata around the elbows and knees.

-Signs of primary biliary cirrhosis

· Tell the examiner that this patient probably has a type III hyperlipidaemia.

Note. A more generalized form may be associated with monoclonal gammopathy ofmyeloma or lymphoma.

ADVANCED-LEVEL QUESTIONS

How would you classify hyperlipidaemia ?

Fredrickson classification, depending on laboratory findings:

• Type l: raised levels of chylomicrons and triglycerides, normal cholesterolcon-centration (pancreatitis, eruptive xanthomata and lipaemia retinalis).

• Type lla: raised LDL and cholesterol levels, normal concentration of triglycerides(premature coronary artery disease, tendon xanthomata and arcus corneae).

• Type llb: raised levels of LDL, very low density lipoprotein (VLDL), cholesteroland triglycerides (premature coronary artery disease).

• Type 1II: raised beta-VLDL (cholesterol-rich) remnants, cholesterol andtriglycerides (premature coronary artery disease, peripheral vascular disease, palmarand tuberous xanthomata).

• Type IV: raised VLDL and triglycerides, normal cholesterol (premature coronaryartery disease - in some forms, risk of developing chylomicronaemia syndrome).

• Type V: raised chylomicrons, VLDL, cholesterol and triglycerides (pancreatitis,eruptive xanthoma, lipaemia retinalis).

What are the causes of hypercholesterolaemia ?

• Primary hypercholesterolaemia: familial hypercholesterolaemia, familial com-bined hyperlipidaemia, polygenic hypercholesterolaemia.

• Secondary hypercholesterolaemia: biliary cirrhosis, hypothyroidism, nephroticsyndrome, diet, drugs (thiazides, beta-blockers, oestrogens).

What is the histology of xanthomas ?

Xanthomas are collections of foamy histocytes within the dermis. These cells have abundant and finely vacuolated cytoplasm giving them a foamy appearance. Cholesterol (both free and etherified ), triglycerides and phospholipids are present within the cell. Often the cells are surrounded by inflammatory cells and fibrosis about the central zone of lipid-laden cells.