DISEASE MANAGEMENT
STRIVING FOR ORGAN PROTECTION
20 years of treatment for Fabry disease
An interactive video experience
INTRODUCING
LYSOSOMAL STORAGE DISORDERS
Fabry disease is a lysosomal storage disorder caused by variants in the GLA gene and is a progressive, life-threatening, multisystemic condition.
What are lysosomal storage disorders?
Lysosomal storage disorders are inherited inborn errors of metabolism caused by defects in the genes that encode lysosomal enzymes, leading to enzyme deficiency.1 These enzymes break down and help to recycle macromolecules such as carbohydrates, lipids, nucleic acids and proteins, and are pivotal for cellular communication, response to infection and homeostasis.1,2 Lysosomal storage disorders affect the chemical composition of the lysosomal storage material and can be divided into three broad groups: sphingolipidoses, mucopolysaccharidoses and glycoproteinoses.3
Variants in the genes that encode lysosomal proteins (e.g., lysosomal glycosidases, proteases, integral membrane proteins, transporters, and enzyme modifiers or activators) can affect the functionality of the encoded protein, leading to the progressive accumulation of substrates within lysosomes, which ultimately leads to cell dysfunction and cell death. Collectively, there are 70 monogenic disorders of lysosomal catabolism, the majority of which are inherited as autosomal recessive traits, with only three linked to the X chromosome: Danon disease, Fabry disease and mucopolysaccharidosis II (also known as Hunter syndrome).1 Fabry disease is a rare lysosomal storage disorder caused by variants in the GLA gene, which is located on the X chromosome and encodes the alpha-galactosidase (α-Gal A) enzyme.4
Lysosomal storage disorders often present in infancy and childhood, but late-onset disease can occur in adulthood.1 The symptoms of lysosomal storage disorders may progress and evolve over time, and can involve multiple organs and systems.5 Diagnosis of lysosomal storage disorders may include enzymatic analysis and single-gene sequencing.1,5 Patients may present with a continuum of disease severity. Diagnosis may be delayed, especially in milder cases with longer survival, if clinical symptoms are similar to other more common conditions.1 Together, lysosomal storage disorders are common; however, individually, these disorders are considered rare. One Australian study estimated that lysosomal storage disorders affected 1 in 7700 live births; although, the prevalence of individual disorders was estimated to range from 1 in 57,000 live births for Gaucher disease to 1 in 4.2 million live births for sialidosis.6
C-ANPROM/INT/FAB/0015; Date of preparation: March 2021
- Platt FM, d'Azzo A, Davidson BL, et al. Lysosomal storage diseases. Nat Rev Dis Primers 2018; 4: 27.
- Settembre C, Fraldi A, Medina DL, et al. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol 2013; 14: 283-296.
- Dandana A, Ben Khelifa S, Chahed H, et al. Gaucher disease: clinical, biological and therapeutic aspects. Pathobiology 2016; 83: 13-23.
- Vardarli I, Rischpler C, Herrmann K, et al. Diagnosis and screening of patients with Fabry disease. Ther Clin Risk Manag 2020; 16: 551-558.
- Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med 2015; 66: 471-486.
- Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-254.
STRIVING FOR ORGAN PROTECTION
Elearning
SUPPORTING FAMILY CONVERSATIONS:
Family screening for Fabry disease
Family screening is a process to identify any family members at risk of Fabry disease and involves plotting the patient's family tree.
Brochure
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Genetic considerations and pedigree analysis for diagnosis
Following a diagnosis of Fabry disease, it is recommended that a thorough pedigree analysis is performed for each patient to identify any family members at risk of the disease.
Brochure
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Renal considerations for diagnosis
Renal manifestations occur early in the disease course; therefore, nephrologists are recommended to maintain an awareness of Fabry disease.
Events
WORLDSymposium™ 2022
The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases. Here you can access summaries from the meeting, including reports with a specific focus on Fabry disease.
Brochure
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Cardiac considerations for diagnosis
Due to the high prevalence of cardiac involvement in patients with Fabry disease, cardiologists are vital in the screening and diagnosis of the disease. Cardiologists are recommended to maintain an awareness of Fabry disease.
Brochure
STRIVING FOR ORGAN PROTECTION
Fabry Disease: Neurological considerations for diagnosis
Neurologists can aid an early diagnosis of Fabry disease and document neurological involvement associated with the disease.
BURDEN OF DISEASE
Rare diseases
What is a rare disease?
According to the European Commission, a rare disease affects no more than 1 in 2000 individuals.
BURDEN OF DISEASE
Fabry disease
What is Fabry disease?
Fabry disease is an X-linked genetic disorder caused by variants in the GLA gene encoding the lysosomal enzyme α-Gal A.
BURDEN OF DISEASE
Epidemiology of Fabry disease
What is the prevalence of Fabry disease?
Fabry disease is observed in all ethnic, racial and demographic groups, and affects approximately 1 in 40,000 males and approximately 1 in 20,000 females.
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