{"id":741,"date":"2024-05-01T16:15:18","date_gmt":"2024-05-01T16:15:18","guid":{"rendered":"https:\/\/www.chiesimedical.co.uk\/patient\/?page_id=741"},"modified":"2024-10-15T14:58:05","modified_gmt":"2024-10-15T14:58:05","slug":"homozygous-familial-hypercholesterolemia","status":"publish","type":"page","link":"https:\/\/www.chiesimedical.co.uk\/patient\/therapy-areas\/rare-diseases\/homozygous-familial-hypercholesterolemia\/","title":{"rendered":"Homozygous familial hypercholesterolemia"},"content":{"rendered":"\n
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Alpha-mannosidosis<\/h2>\n <\/div>\n <\/a>\n \n \n
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Fabry disease<\/h2>\n <\/div>\n <\/a>\n \n \n
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Nephropathic cystinosis <\/h2>\n <\/div>\n <\/a>\n \n \n
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Beta-thalassaemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Leber hereditary optic neuropathy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Homozygous familial hypercholesterolemia<\/h2>\n <\/div>\n <\/a>\n \n \n
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Lipodystrophy<\/h2>\n <\/div>\n <\/a>\n \n \n
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Epidermolysis bullosa<\/h2>\n <\/div>\n <\/a>\n <\/div>\n\n\n\n

Homozygous familial hypercholesterolaemia<\/h2>\n\n\n\n

Homozygous familial hypercholesterolemia (HoFH) is a rare condition caused by changes in several genes.1,2<\/sup> It affects the body\u2019s ability to process and remove cholesterol, a fatty substance found throughout the body, that is used to help build cells and produce hormones.1\u20133<\/sup> HoFH causes extremely high levels of low-density lipoprotein or \u2018bad cholesterol\u2019 in the blood.1,3<\/sup> High levels of bad cholesterol can cause blockages in the arteries and increase the chances of heart disease from an early age.4<\/sup> HoFH differs from familial hypercholesterolaemia by the number of faulty copy of genes inherited. HoFH requires inheriting the faulty gene from both parents, which results in a much higher cholesterol level than familial hypercholesterolaemia.1<\/sup><\/p>\n\n\n\n

Signs and symptoms of HoFH include:2,4<\/sup><\/h3>\n\n\n\n
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High blood cholesterol levels<\/p>\n <\/div>\n \n

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Heart disease<\/p>\n <\/div>\n \n

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Bumps or lumps around your knees, knuckles or elbows<\/p>\n <\/div>\n \n

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Swollen or painful Achilles tendon<\/p>\n <\/div>\n \n

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Yellowish coloured areas around your eyes<\/p>\n <\/div>\n \n

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Whitish grey colour in the shape of a half-moon on the outside of your cornea<\/p>\n <\/div>\n <\/div>\n\n\n\n\n

Diagnosis of HoFH includes clinical assessment of physical symptoms, such as lumps under the skin, and a simple cholesterol test to measure the levels of bad cholesterol in the blood.5 <\/sup>A genetic test can also be carried out to confirm a diagnosis and identify the specific genetic change.5<\/sup> <\/p>\n\n\n\n

It is important to note that those living with HoFH may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of HoFH, please speak to a healthcare professional as soon as possible to get appropriate advice.<\/p>\n\n\n\n

Further support and resources<\/h3>\n\n\n\n

There are several organisations and charities across the UK that aim to raise awareness for patients with rare diseases. Many provide a supportive community where individuals and their families can both seek and offer support to others facing similar challenges.<\/p>\n\n\n\n

For resources to support you with managing your condition:<\/p>\n\n\n\n