Diseases

Acromegaly

Acromegaly is a rare disease caused by a benign tumor of the pituitary gland that produces an excess of growth hormone.¹ The most prevalent clinical signs and symptoms include abnormal growth of the hands, jaw, face, or feet, headache, fatigue, excessive sweating, snoring, skin changes, weight gain, and joint pain.¹^,² Alongside structural alterations and physical manifestations, this condition frequently contributes to the development of major comorbidities, including cardiovascular disease, diabetes mellitus, and sleep apnea.¹ These manifestations may persist over time, even after surgery to remove most of the tumor and/or other treatment to control the condition such as medication or radiation.³^,⁴

Click here to visit the external Chiesi website for more information about this condition. For users in the UK and Ireland, this condition is not covered on that website. We advise consulting your physician for further information.

¹ Slagboom TNA, van Bunderen CC, De Vries R, et al. Prevalence of clinical signs, symptoms and comorbidities at diagnosis of acromegaly: a systematic review in accordance with PRISMA guidelines. Pituitary. 2023; 26(4):319-332.
² AlDallal S. Acromegaly: a challenging condition to diagnose. International Journal of General Medicine 2018; 11:337-343.
³ Fleseriu M, Barkan A, del Pilar Schneider M, et al. Prevalence of comorbidities and concomitant medication use in acromegaly: analysis of real‑world data from the United States. Pituitary 2022; 25:296–307.
⁴ Whittington MD, Munoz KA, Whalen JD, Ribeiro-Oliveira A, Campbell JD. Economic and clinical burden of comorbidities among patients with acromegaly. Growth Horm IGF Res. 2021;59:101389

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Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID)

ADA-SCID is a rare, genetic inherited condition that mainly affects immune systems. It is caused by the mutation of the adenosine deaminase (ADA) gene, which determines absent and impaired activity of ADA enzyme.¹ The condition ranges from mild and later-onset form to early-onset severe form, which is the most common one.²

Due to a compromised immune system, any infection can represent a serious threat for the health of people living with ADA-SCID. This condition may also determine skeletal abnormalities, hemolytic anemia, neurologic abnormalities, and elevated liver enzymes.² Although the prognosis for people with ADA-SCID has improved over time, they continue to face complications that require ongoing medical monitoring and management.¹

Learn more about this condition at the external Chiesi international website (UK excluded) or at the Chiesi U.S. website.

¹ Kuo CY, Garabedian E, Puck J, et al. Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry. J Clin Immunol. 2020; 40(8):1124-1131.
² Hershfield M, Tarrant T. Adenosine Deaminase Deficiency. GeneReviews® [Internet] 2006.

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Alpha-mannosidosis

Alpha-mannosidosis is an ultra-rare disease that is genetically inherited.¹^,² This condition is caused by a genetic mutation determining the deficiency of an enzyme called alpha-mannosidase.¹ This enzyme helps break down sugar molecules³. When it is not produced correctly, sugars are not properly broken down and they accumulate in the lysosomes of all tissues, causing cellular damage.³ Symptoms of the disease vary significantly among them and include hearing and cognitive impairment, skeletal abnormalities, distinctive facial features and immunodeficiency.²

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¹ Beck M, Olsen KJ, Wraith JE, et al. Natural history of alpha mannosidosis a longitudinal study Orphanet J Rare Dis. 2013; 8:88.
² Malm D, Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis. 2008; 3:21.
³ Borgwardt L, Stensland HM, Olsen KJ, et al. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. Orphanet J Rare Dis. 2015; 10:70.

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Beta thalassaemia

Beta thalassaemia is an inherited disorder that affects the body’s ability to produce haemoglobin.¹^,² It is classified into two types based on symptom severity, with thalassaemia major being the more severe form.² People living with this condition may experience complications involving the liver, heart, and may have abnormally shaped bones.² Additionally, they require frequent blood transfusions, which can cause excess iron to build up in the body. This iron overload can lead to further complications affecting the liver, heart, and hormonal system.²

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¹ Aessopos A, Berdoukas V. Cardiac function and iron chelation in thalassemia major and intermedia: a review of the underlying pathophysiology and approach to chelation management. Mediterr J Hematol Infect Dis. 2009; 1(1):e2009002.
² Genetics Home Reference. National Institutes of Health. https://ghr.nlm.nih.gov/condition/beta-thalassemia. Last accessed: December 2024.

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Cystinosis

Cystinosis is an ultrarare, progressive, multisystemic lysosomal storage disorder.¹ It results from mutations in the CTNS gene, which encodes the protein cystinosin, responsible for transporting cystine out of lysosomes.¹^,² When cystinosin is absent or defective, cystine accumulates within lysosomes and forms crystals that progressively damage various tissues and organs throughout the body.¹ The kidneys are typically the first organs to show signs of dysfunction.¹ As the disease progresses into adolescence and adulthood, a range of extra-renal complications may arise, including photophobia, thyroid disorders, male hypogonadism with infertility, pancreatic abnormalities, enlargement of the liver and spleen, muscle wasting, lung impairment, and cognitive impairment.¹ These systemic complications significantly impact quality of life.¹

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¹ Levtchenko E, Servais A, Hulton SA, et al. Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients. Clin Kidney J. 2022; 15(9):1675-1684.
² Bäumner S, Weber LT. Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. Front Pediatr. 2018; 6:58.

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Epidermolysis Bullosa (EB)

Epidermolysis Bullosa (EB) is a rare and complex group of inherited disorders characterized by fragility of the skin and mucous membranes, including the lining of the mouth and throat, the eyes and the digestive system.¹^,² This condition is characterized by repeated blister formation triggered by minor mechanical injury, resulting from structural abnormalities in the skin and other tissues.² These lesions may lead to painful ulcers, scarring, secondary infections, and functional impairment.³ The severity of EB varies from simple blistering affecting the hands and feet, to death in early infancy¹. People with EB must take extraordinary measures to protect their fragile skin, and despite their effort, many live with chronic wounds all over their body. These wounds are extremely painful and itchy.¹^,²

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¹ Denyer J, Pillay E, Clapham J. Best practice guidelines for skin and wound care in epidermolysis bullosa. An International Consensus.. Wounds International, 2017.
² Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010; 5:12.
³ Tabor A, Pergolizzi JV, Marti G, et al. Raising Awareness Among Healthcare Providers about Epidermolysis Bullosa and Advancing Toward a Cure. J Clin Aesthet Dermatol. 2017; 10(5):36-48.

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Fabry Disease

Fabry disease is a rare, genetic lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A, which leads to accumulation of fat in various cells throughout the body. This can result in multisystemic disease, mainly affecting the kidneys, heart, and nervous system.¹ As such, it entails a series of different symptoms including pain mostly perceived as a burning pain in the extremities, chronic fatigue and gastrointestinal alterations.² Every person living with Fabry can experience a different combination of symptoms – even in members of the same family.³^,⁴ This variability can make Fabry difficult to diagnose.²^,⁴

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¹ Arends M, Wanner C, Hughes D, et al. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study. J Am Soc Nephrol 2016; 28:(5):1631-1641.
² Germain DP. Fabry disease. Orphanet J Rare Dis. 2010; 5:30.
³ Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Molecular Genetics and Metabolism 2018; 123:416-427.
⁴ Desnick RJ, Brady R, Barranger J et al. Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy. Ann Intern Med. 2003; 138(4):338-46.

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Homozygous Familial Hypercholesterolemia (HoFH)

Homozygous familial hypercholesterolemia is a rare genetic inherited disorder. It is the most rare and severe form of Familial Hypercholesterolemia (FH), arising only if both parents are carriers of the genetic mutation.¹ Starting from birth, people with HoFH present with very high levels of the so called “bad-cholesterol”(low-density lipoprotein cholesterol LDL-C), which can be four times higher than normal values. Such high level of LDL-C lead to severe heart disease, premature atherosclerosis and cardiovascular events.²

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¹ Cuchel M, Raal FJ, Hegele RA, et al. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J. 2023;44(25):2277-2291.
² Nohara A, et al. Homozygous Familial Hypercholesterolemia. J Atheroscler Thromb. 2021; 28(7):665-678.

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Leber’s Hereditary Optic Neuropathy (LHON)

Leber’s Hereditary Optic Neuropathy (LHON) is a rare inherited condition that leads to a rapid loss of central vision.¹ In most cases, LHON is caused by a mutation in mitochondrial DNA.¹ Mitochondria are responsible for producing energy within cells, but in LHON, this process is disrupted.² Retinal ganglion cells have high energy demands; therefore, they contain a greater number of mitochondria,² making them particularly vulnerable to mitochondrial dysfunction.² As a consequence, individuals with LHON typically experience a painless, subacute loss of central vision in one eye, followed by involvement of the second eye within few weeks or months.¹

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¹ Theodorou-Kanakari A, Karampitianis S, Karageorgou V, et al. Current and Emerging Treatment Modalities for Leber’s Hereditary Optic Neuropathy: A Review of the Literature. Adv Ther. 2018; 35(10):1510-1518.
² Karaarslan C. Leber’s Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development. Adv Ther. 2019; 36(12):3299-3307.

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Lipodystrophy

Lipodystrophy syndromes are a heterogeneous group of rare conditions characterized by a generalized or partial lack of adipose tissue, specifically subcutaneous fat (fat under the skin).¹ As a consequence, people with Lipodystrophy present with leptin deficiency, a hormone predominantly secreted by adipose tissue.² This causes early-onset of metabolic diseases, such as severe insulin resistance, difficult-to-treat diabetes along with insatiable hunger and organ complications.¹^,² People with Lypodistrophy have visible muscular appearance, prominent visible veins and abnormal fat distribution.¹

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¹ Brown RJ, Chair C, Araujo-Vilar D, et al. The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice GuidelineJ Clin Endocrinol Metab. 2016; 101(12):4500-4511.
² Akinci B, Oral EA, Neidert A, et al. Comorbidities and Survival in Patients With Lipodystrophy: An International Chart Review Study. J Clin Endocrinol Metab. 2019; 104(11):5120-5135.

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Sickle cell disease

Sickle cell disease encompasses a group of inherited genetic disorders that affect hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body.¹ Normally, red blood cells are round and flexible, therefore they flow easily through blood vessels. In sickle cell disease, a genetic mutation causes red blood cells to become stiff and sickle-shaped, which can block blood flow and reduce oxygen delivery throughout the body.¹ People with this disease can experience severe pain called pain crises, which occur when blood flow becomes obstructed.¹ They also need frequent blood transfusions to increase the oxygen carrying capacity of blood and reduce the complications of vaso-occlusion.² However, repeated transfusions result into iron overload that needs to be managed to prevent organ damage.²

Learn more about this condition at the external Chiesi international website (UK excluded) or at the Chiesi U.S. website.

¹ National Heart, Lung and Blood Institute. Sickle Cell Disease. Available at: https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease.
² Howard J. Sickle cell disease: when and how to transfuse. Hematology Am Soc Hematol Educ Program. 2016; (1):625-631.

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Diseases

Alpha Mannosidosis

Alpha Mannosidosis is an ultra-rare disease that is genetically inherited. This condition causes the deficiency of an enzyme called alpha-mannosidase. This enzyme helps break down sugar molecules. When it is not produced correctly, sugars are not properly broken down and they build up, causing damages to different organs. Effects of the disease vary significantly, and symptoms can include recurrent infections, hearing loss, distinctive facial features, muscle weakness, skeletal and joint abnormalities, or cognitive impairment.

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Thalassaemia

Thalassaemia is an inherited disorder that affects the body’s ability to produce haemoglobin. The are different types of Thalassaemias, the most severe is Beta-Thalassaemia. People living with this condition need frequent blood transfusions. Thalassaemia can lead to many health problems, such as enlarged spleen, bone deformities in the face and skull, and to an accumulation of extra iron in the organs after repeated transfusions, especially in the heart and liver.

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Fabry Disease

Fabry disease is a lysosomal storage disorder caused by a genetic mutation resulting into the deficiency of the enzyme called alpha-galactosidase. As the enzyme is not working properly, there is an accumulation of a type of fat called globotriaosylceramide in various cell types throughout the body. This can result in multisystemic disease, mainly affecting the kidneys, heart, and nervous system. People living with Fabry Disease can experience different symptoms including burning pain in the hands and feet, chronic fatigue, gastrointestinal problems and inability or decreased ability to sweat.

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Cystinosis

Cystinosis is an ultra-rare, progressive, multisystemic disorder caused by an inherited genetic mutation. In people with cystinosis, an amino acid called cystine builds up in a part of the cell called the lysosome, and the cells are unable to remove it. When cystine builds up, it forms crystals within cells that can cause progressive and irreversible damage to all organs, including the kidneys, eyes, muscles, pancreas, and brain.

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Leber’s Hereditary Optic Neuropathy (LHON)

Leber’s Hereditary Optic Neuropathy or LHON is a rare inherited condition that results in rapid loss of the central vision, the one needed to read, drive, recognize the faces of the people. In most cases, LHON is caused by a genetic mutation of the mitochondrial DNA. The mitochondria produce the energy for the cells. In LHON, this energy is not produced properly. The cells of the optic nerve are those needing more energy and therefore are the ones affected by the mutation. As a result, people with LHON experience a rapid, painless blurring and clouding of central vision that starts in one eye, and then it also affects the fellow eye often leading to legal blindness.

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