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Rare diseases

Chiesi is committed to helping people living with rare and ultra-rare diseases by researching and developing innovative treatments to improve patient outcomes

Please note that disease prevalence and impacts may vary; consult a healthcare provider for advice on your specific condition

Alpha-mannosidosis

Fabry disease

Nephropathic cystinosis

Beta-thalassaemia

Leber hereditary optic neuropathy

Homozygous familial hypercholesterolemia

Lipodystrophy

Epidermolysis bullosa

Homozygous familial hypercholesterolaemia

Homozygous familial hypercholesterolemia (HoFH) is a rare condition caused by changes in several genes.1,2 It affects the body’s ability to process and remove cholesterol, a fatty substance found throughout the body, that is used to help build cells and produce hormones.1–3 HoFH causes extremely high levels of low-density lipoprotein or ‘bad cholesterol’ in the blood.1,3 High levels of bad cholesterol can cause blockages in the arteries and increase the chances of heart disease from an early age.4 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

Signs and symptoms of HoFH include:2,4

High blood cholesterol levels

Heart disease

Bumps or lumps around your knees, knuckles or elbows

Swollen or painful Achilles tendon

Yellowish coloured areas around your eyes

Whitish grey colour in the shape of a half-moon on the outside of your cornea

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 A genetic test can also be carried out to confirm a diagnosis and identify the specific genetic change.5

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.

Further support and resources

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.

For resources to support you with managing your condition:

Patient Resources

If you’re a patient, or a carer of a patient, who has been prescribed one of our products, you’ll find information and resources to help manage your condition here.

Access resources

References

  1. HEART UK. Homozygous familial hypercholesterolaemia (HoFH). Available at: https://www.heartuk.org.uk/hofh/what-is-hofh.
  2. Centers for Disease Control and Prevention. Familial hypercholesterolaemia. Available at: https://www.cdc.gov/genomics/disease/fh/FH.htm.
  3. Heart UK. What is cholesterol. Available at: https://www.heartuk.org.uk/cholesterol/what-is-cholesterol.
  4. British Heart Foundation. Familial hypercholesterolaemia. Available at: https://www.bhf.org.uk/informationsupport/conditions/familial-hypercholesterolaemia.
  5. HEART UK. Diagnosing HoFH. Available at: https://www.heartuk.org.uk/hofh/diagnosing-hofh.