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Rare

In 2020, Chiesi launched Chiesi Global Rare Diseases, a business unit focused on supporting people living with with rare and ultra-rare diseases. The Global Rare Diseases unit works in collaboration with the wider Chiesi Group to harness the full resources and capabilities of our global network.

 
 

About Fabry Disease

Fabry Disease is a rare genetic disorder causing fat to build up inside the body leading to symptoms like pain, stomach issues, and temperature sensitivity, which can make daily living difficult.1

Fabry disease may be more common than thought due to underdiagnosis.

 
fabry-disease-patient-ria
 
alpha-mannosidosis-patient-haiko
 

About Alpha-Mannosidosis

Alpha-mannosidosis is an ultra-rare genetic disorder caused by certain enzymes being missing or deficient.

The condition can lead to problems in the immune system, skeletal abnormalities, hearing loss, and learning difficulties.2

 
 
 

About Leber's Hereditary Optic Neuropathy (LHON)

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease, which refers to the structure of energy cells within the body. It is a genetic condition affecting the eyes, initially causing vision loss in one eye followed by the other.3 Most commonly affecting young men, symptoms usually appear in adolescence or their early twenties. It can also affect women but usually doesn’t appear until later in life.4

 
lhon-patient-paola
 
nephropathic-cystinosis-patient-konstantinos
 

About Nephropathic Cystinosis

Nephropathic cystinosis is a rare genetic disease caused by an abnormal build up of a certain amino acid called cystine. It can cause symptoms such as excessive thirst and urination, and growth issues. Children with nephropathic cystinosis are at high risk of developing severe kidney disease, which may eventually lead to kidney failure.5

 
 
 

About Beta Thalassaemia

Beta thalassaemia is a severe genetic blood disorder causing anaemia, bone deformities, and other issues due to low red blood cell production.6

 
beta-thalassemia-patient-giulia
 
epidermolysis-bullosa-patient-luis
 

About Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a group of rare skin disorders. It causes the skin to become very fragile and sensitive, and any friction or contact can result in painful blisters. There are several different genes involved in EB and changes to these can mean that you can no longer correctly make important structural components of the skin.7,8

 
 
 

About Homozygous Familial Hypercholesterolemia

Homozygous familial hypercholesterolemia (HoFH) is a rare condition caused by changes in several genes.9, 10 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.9, 11 HoFH causes extremely high levels of low-density lipoprotein or ‘bad cholesterol’ in the blood.9, 11 High levels of bad cholesterol can cause blockages in the arteries and increase the chances of heart disease from an early age.12

 
hofh-patient-phil
 
lipodystrophy-patient-elena
 

About Lipodystrophy

Lipodystrophy is an ultra-rare condition that results in the abnormal distribution of fat throughout the body. It can be inherited and passed down from parents or it can occur as a young adult when triggered by various environmental factors, including certain medications, autoimmune disease or after a viral infection.13, 14

 
 

References

  1. MPS Society. Fabry disease. [online] Available at: https://www.mpssociety.org.uk/fabry-disease
  2. NORD (National Organization for Rare Disorders). (2018). Alpha-Mannosidosis. [online] Available at: https://rarediseases.org/rare-diseases/alpha-mannosidosis
  3. Fight for Sight. (2015). Leber Hereditary Optic Neuropathy [online] Available at: https://www.fightforsight.org.uk/about-the-eye/a-z-eye-conditions/leber-hereditary-optic-neuropathy
  4. LHON Society. At what age do symptoms begin? [online] Available at: https://www.lhonsociety.org/information/at-what-age-do-symptoms-begin
  5. National Kidney Foundation. (2017). Nephropathic Cystinosis. [online] Available at: https://www.kidney.org/atoz/content/nephropathic-cystinosis
  6. NHS (2019). Symptoms - Thalassaemia. [online] NHS. Available at: https://www.nhs.uk/conditions/Thalassaemia
  7. NHS. Epidermolysis bullosa. Available at: https://www.nhs.uk/conditions/epidermolysis-bullosa/
  8. DEBRA. What is EB?. Available at: https://www.debra.org.uk/what-is-epidermolysis-bullosa-eb
  9. HEART UK. Homozygous familial hypercholesterolaemia (HoFH). Available at: https://www.heartuk.org.uk/hofh/what-is-hofh
  10. Centers for Disease Control and Prevention. Familial hypercholesterolaemia. Available at: https://www.cdc.gov/genomics/disease/fh/FH.htm
  11. Heart UK. What is cholesterol. Available at: https://www.heartuk.org.uk/cholesterol/what-is-cholesterol
  12. British Heart Foundation. Familial hypercholesterolaemia. Available at: https://www.bhf.org.uk/informationsupport/conditions/familial-hypercholesterolaemia
  13. Lipodystrophy UK. What is lipodystrophy?. Available at: https://lipodystrophyuk.org/what-is-lipodystrophy/
  14. NHS Cambridge University Hospitals. Lipodystrophy. Available at: https://www.cuh.nhs.uk/patient-information/lipodystrophy/
 

UK-CHI-2600464 | June 2026