What are the symptoms of FH?

Some of the symptoms of FH can be seen on the Mona Lisa. (da Vinci, 1503)

You can't feel or generally see whether you have high cholesterol levels in the same way that you feel and know you have a headache, and without a blood test you certainly cannot tell what your various cholesterol (lipid) levels are, but the following can indicate FH.

The development of atherosclerosis begins before birth and progresses silently in childhood and can be compared to calcium deposits in a water pipe. Gradually, the opening gets smaller and smaller, the inner surface becomes more irregular and blood can no longer flow freely through.

The Signs

As well as very high cholesterol levels (if tested) and a strong family history of heart disease (if asked about), FH can sometimes be recognised by outward signs. We sometimes call them 'lumps and bumps', but we need the expert eye of a physician for accurate diagnosis and not everyone with FH will have these signs, particularly children. The lumps and bumps may result from cholesterol deposits in the tendons at the back of the hands overlying the knuckles and in the Achilles tendon at the back of the ankles. The resulting swellings are called tendon xanthomatas. Cholesterol may also be deposited in the skin around the eye or eyelids. These deposits are usually yellow and are called xanthelasmas. Another visible sign often seen is a whitish ring around the inside of the outer rim of the iris, called corneal arcus. Only tendon xanthomata are specific to FH, whilst xanthelasmas and corneal arcus can occur for other reasons as we get older.

Related Disorders

Familial Combined Hyperlipidaemia (FCH) is another inherited disorder of cholesterol which is characterised by having additionally high triglyceride levels. We presently know less about this condition but it also results in a high risk of cardiovascular disease. Those with FCH may not have raised cholesterol levels in childhood, indeed they may not appear until patients are in their 20s or 30s. Lumps and bumps are not present in FCH, and cholesterol levels tend to be not quite as high as in FH.

Most importantly, whenever FH is diagnosed, it is essential that all close relatives have their cholesterol levels measured so they too can start preventative treatments.