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About Rare DiseasesRare Disease Wiki

Fabry Disease

Name of disease:

Fabry Disease

ICD-10 diagnosis code:

E75.21 [2]

Causes:

Fabry’s disease is an X-linked lysosomal storage disorder (LSD) caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A (α-Gal A), which leads to storage of neutral glycosphingolipids, particularly galactosylceramide (Gb3), in many tissues and cell types. [3]

Pattern of inheritance:

X-linked inherited mutation

Prevalence:

Having only one X chromosome, males are more severely affected than female. With two X chromosomes, females have a more variable course and may be asymptomatic or with late onset. The incidence of Fabry’s disease has been estimated at 1: 40,000.[3] However a Taiwan study of newborn screening identified a surprisingly high frequency of males with Fabry disease (approximately one in 1,250).[4]

Diagnosis:

Physical examinations assess the signs and symptpms Family disease history Measurement of α-Gal A activity Lyso-Gb3 biomarker analysis Molecular analysis of the GLA gene α-Gal A activity can be variable in females, due to X-linked inheritance of disease. GLA sequencing is therefore critical in females.[7] Dry Blood Spot (DBS) Test is the most widely used method today for diagnosis. It is reliable, fast, cheap and relatviely easy to perform. [8]

Age of onset:

10+ years old (Classicical type) OR 40-50 years old (Non-classical/Later onset type)

Common signs and symptoms:

Classical type (children & adolescents): Acute, unexplained episodes of pain or chronic pain in the limbs exercise intolerance Unexplained gastrointestinal disturbances Hypohidrosis Angiokeratomas Characteristic corneal lesions Mild proteinuria Non-classical/Later onset type (adults) Other manifestations include unexplained renal dysfunction progressing to end-stage renal disease, unexplained cardiomyopathy, especially LVH6, and stroke from unclear causes.[3]

Available treatments (medicinal and non-medicinal):

As a genetically mutation, there is no cure for Fabry disease to date. Therapy comprises both specific replacement of the deficient α-GAL A (Enzyme Replacement Therapy, ERT) and supportive or adjunctive therapy of complications of the condition. Adjunctive therapies include treatment of pain, hypertension and angiokeratoma and should be available to all patients who are symptomatic. ERT reduces symptoms, improves quality of life (QoL), and improves clinical signs and biochemical markers.[5]

Disease management tips:

Regardless the disease manifestations, routine assessment of the pathological process/ medical check-up can help the prevention of potential organ dysfunctions, including heart, kidney, nerve system, eyes and hearing, etc. Early treatment of individual symptoms will be needed for many patients. [3]

Reference:

1. https://rarediseases.org/rare-diseases/fabry-disease/ (Last access on Mar 16th, 2022) 2. https://www.icd10data.com/ICD10CM/Codes/E00-E89/E70-E88/E75-/E75.21 (Last access on Mar 16th, 2022) 3. Yuri A Zarate, et al. Lancet 2008; 372: 1427–35 (last access on Mar 16th, 2022) 4. Wuh-Liang Hwu, et al. Hum Mutat. 2009; 30(10): 1397-1405 (Last access on Mar 16th, 2022) 5. Hughes D, et al. UK Adult Fabry Disease Standard Operating Procedures, 2013. (Last access on Mar 16th, 2022) 6. Sadasivan C, et al. PLoS One, 2020; 15(9): e0239675 (Last access on Mar 16th, 2022) 7. Stiles A, et al. Molecular genetics and Metabolism, 2020; V130, I3: 209-214 (Last access on Mar 21st, 2022)8. Scalia S. Giornale di Techniche Nefrologiche e Dialitiche 29(Suppl 1):5-6 (Last access on Mar 21st, 2022)

Other useful websites:

Patient Groups:

Local media report disease information (Chinese):

Acknowledgment

This page is contributed by Takeda Pharmaceuticals (HK) Ltd. ~ C-ANPROM/HK/REP/0011 (12/2023)
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