Clinical characteristics.

Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% α-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of kidney function to end-stage kidney disease (ESKD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESKD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype.

In contrast, late-onset forms occur in males with greater than 1% α-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; kidney failure, associated with ESKD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.

Diagnosis/testing.

Identification of deficient α-Gal A enzyme activity in plasma, isolated leukocytes, and/or cultured cells is the most efficient and reliable method of diagnosing Fabry disease in males. Identification of a hemizygous GLA pathogenic variant by molecular genetic testing confirms the diagnosis in a male proband. Identification of a heterozygous GLA pathogenic variant by molecular genetic testing establishes the diagnosis in a heterozygous female.

Management.

Targeted therapies: Enzyme replacement therapy (ERT) with or without chaperone therapy (e.g., migalastat) to prevent and/or delay the progression of renal, cardiac, and cerebrovascular manifestations. Experts recommend that ERT be initiated as early as possible in all males with Fabry disease (including children and those with ESKD undergoing dialysis and kidney transplantation) and in females with clinical disease manifestations, as all are at high risk for renal, cardiac, and cerebrovascular complications.

Supportive care: Diphenylhydantoin, carbamazepine, or gabapentin to reduce pain (acroparesthesia); aspirin, lipid-lowering agents, and blood pressure control for cardiac ischemia; aspirin and/or other antiplatelet agents may be recommended for stroke prophylaxis; ACE inhibitors or angiotensin receptor blockers to reduce proteinuria; chronic hemodialysis and/or kidney transplantation for ESKD; rehabilitation and hearing aids for auditory and vestibular symptoms; management of psychiatric manifestations per psychologist.

Surveillance: Annual assessment for angiokeratomas, acroparesthesia, sweating abnormalities, and gastrointestinal, pulmonary, and vascular manifestations; annual cardiology assessment with EKG and echocardiogram as recommended by cardiologist from age 18 years in males, biannual cardiology assessments in females from age 18 years; annual neurologic assessment with brain MRI\MRA every two to three years beginning at age 18 years; assessment of renal function including blood urea nitrogen, creatinine, and urinalysis annually or more frequently as needed; annual audiology evaluations in males beginning at age 18 years and biannually in females; psychological assessment beginning at age 18 years annually or more frequently as needed.

Agents/circumstances to avoid: Smoking. Amiodarone may or may not have detrimental effects in individuals with Fabry disease; evidence is insufficient.

Evaluation of relatives at risk: Early identification of affected male and female relatives by molecular genetic testing (if the GLA pathogenic variant in the family is known) or, in males only, measurement of α-Gal A enzyme activity (if the GLA pathogenic variant in the family is not known) in order to initiate appropriate management as early as possible in affected individuals.

Genetic counseling.

Fabry disease is inherited in an X-linked manner: hemizygous males are affected; heterozygous females may be as severely affected as males or asymptomatic throughout a normal life span. In a family with more than one affected individual, the mother of an affected male is an obligate heterozygote. If a male is the only affected family member, his mother is likely heterozygous for the GLA pathogenic variant; rarely, a single affected male in a family may have a de novo pathogenic variant. A heterozygous female has a 50% chance of transmitting the GLA pathogenic variant in each pregnancy. An affected male transmits the pathogenic variant to all his daughters and none of his sons. Once the GLA pathogenic variant has been identified in an affected family member, molecular genetic testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.

Suggestive Findings

Fabry disease typically affects more than one organ system and should be suspected in males and females with the following clinical features, particularly if more than one is present:

• Vascular cutaneous lesions (angiokeratomas)
• Periodic crises of severe pain in the extremities (acroparesthesia)
• Sweating abnormalities (hypohidrosis, anhidrosis, or rarely hyperhidrosis)
• Cornea verticillata (characteristic corneal opacity) and lenticular opacities
• Unexplained left ventricular hypertrophy or cardiac arrhythmia
• Unexplained stroke
• Abdominal pain, nausea, and/or diarrhea of unknown etiology in young adulthood consistent with irritable bowel syndrome
• Renal insufficiency of unknown etiology including unexplained proteinuria or microalbuminuria

Family history is consistent with X-linked inheritance (e.g., no male-to-male transmission). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

Male proband. The diagnosis of Fabry disease is established in a male proband by:

• Identification of deficient alpha-galactosidase A (α-Gal A) enzyme activity in plasma, isolated leukocytes, and/or cultured cells. The test is a fluorometric assay and uses the substrate 4-methylumbelliferyl-α-D-galactopyranoside.
  • Males with classic Fabry disease have <1% α-Gal A enzyme activity.
  • Males with atypical Fabry disease have >1% α-Gal A enzyme activity.
  Note: Both plasma and leukocyte enzyme activity should be assayed, as some pathogenic variants (e.g., p.Asn215Ser) affect intracellular trafficking or packaging/secretion of the enzyme, such that the reduction in enzyme activity in plasma is more marked than the reduction in enzyme activity in leukocytes.
• Identification of a hemizygous pathogenic (or likely pathogenic) variant in GLA by molecular genetic testing (see Table 1).

Female proband. The diagnosis of Fabry disease is established in a female proband by identification of a heterozygous pathogenic (or likely pathogenic) variant in GLA by molecular genetic testing (see Table 1).

(See also ACMG ACT Sheet.)

Note: (1) Measurement of α-Gal A enzyme activity is unreliable for identification of heterozygous females. Although demonstration of markedly decreased α-Gal A enzyme activity in a female is diagnostic of the heterozygous state, some heterozygotes have α-Gal A activity in the normal range. (2) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (3) Identification of a hemizygous or heterozygous GLA variant of uncertain significance does not establish or rule out the diagnosis.

Clinical Description

Fabry disease encompasses a spectrum of phenotypes ranging from the severe classic phenotype to atypical late-onset forms. The late-onset forms are more common than the classic phenotype. However, in registries and publications individuals with the classic phenotype are overrepresented.

Individuals with atypical Fabry disease present later in life and are underdiagnosed [Germain 2010]. Significant diagnostic delays are reported in the Fabry Outcome Survey (FOS) [Mehta et al 2004]; they are particularly common in females [Ellaway 2015] and may lead to avoidable complications [Reisin et al 2017].

The FOS and the Fabry Registry, multicenter international initiatives designed to examine the natural history of Fabry disease and the effects of enzyme replacement therapy (ERT), are an important source of long-term data on the disease [Giugliani et al 2016, Ortiz et al 2016, Ramaswami et al 2019a, Wanner et al 2020].

Genotype-Phenotype Correlations

Efforts to establish genotype-phenotype correlations have been limited because most families with Fabry disease have a private pathogenic variant, and significant phenotypic variability exists even among individuals with the same pathogenic variant.

• Males with the classic phenotype have a variety of GLA variants including large and small gene rearrangements, splicing defects, and missense or nonsense variants [Desnick et al 2001, Schaefer et al 2005, Human Gene Mutation Database].
• Individuals with later-onset atypical Fabry disease (renal, cardiac, or cerebrovascular disease) have missense or splicing variants that express residual α-Gal A enzyme activity [Rolfs et al 2005].
• A number of pathogenic variants including p.Arg112His, p.Arg301Gln, and p.Gly328Arg have been identified in individuals with both the classic phenotype and the cardiac variant phenotype, suggesting that other modifying factors are involved in disease expression [Ashton-Prolla et al 2000].
• The c.427G>A (p.Ala143Thr) variant has been reported as benign [Terryn et al 2013]. A comprehensive cardiac study of a pedigree with this variant ‒ including relevant biopsy and imaging data ‒ demonstrates conclusively the pathogenicity of this variant [Fuller & Mehta 2020, Valtola et al 2020].
• Individuals with the p.Asn215Ser pathogenic variant have overall less severe disease than age-matched individuals with Fabry disease caused by pathogenic variants associated with classic disease, as assessed in cohorts from single centers [Oder et al 2017, Reuter & Platt 2017, Lavalle et al 2018] and from registry studies [Germain et al 2018]. These individuals generally have predominant cardiac disease, though ESKD is reported [Sugarman et al 2018].
• Newborn screening in Taiwan has revealed a high prevalence (~1:1,600 males) of individuals with the c.640-801G>A pathogenic variant where older family members with late-onset cardiac features have been found [Lin et al 2009].

Prevalence

Fabry disease is found among all ethnic, racial, and demographic groups. The incidence of classic Fabry disease has been estimated at 1:50,000 to 1:117,000 males [Meikle et al 1999, Desnick et al 2001].

Targeted screening programs evaluating individuals on dialysis and those with HCM and newborn screening (NBS) of enzyme activity in dried blood spots suggests that atypical later-onset Fabry disease that primarily affects the cardiovascular, cerebrovascular, or renal system is more common than previously recognized [Linthorst et al 2010, Maruyama et al 2013].

NBS in northern Italy found an incidence of 1:7,879 newborns; all individuals had the later-onset or an unclassified variant of Fabry disease [Gragnaniello et al 2021]. The incidence in Washington State and in Illinois was similar at 1:6,000-1:9,000 males [Scott et al 2013, Burton et al 2017]; while the incidence in Missouri was 1:2,913-1:3,277 individuals [Hopkins et al 2015, Hopkins et al 2018]. The incidence in Hungary, Austria, and Spain was 1:3,000-1:4,000 [Mechtler et al 2012, Wittmann et al 2012, Colon et al 2017].

Enzyme-based NBS in the Taiwan Chinese population found a high prevalence (~1:1,600 males) of the cardiac-variant Fabry-causing pathogenic variant c.640-801G>A as well as in individuals diagnosed with idiopathic HCM [Lin et al 2009]. These findings were confirmed and extended by a DNA-based study of 10,499 neonates, which found an incidence of 1:875 male infants and 1:395 females [Chien et al 2012].

In Japan the incidence of GLA pathogenic variants is approximately 1:12,000 (males and females) [Inoue et al 2013, Sawada et al 2020].

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Fabry disease, the evaluations summarized in Table 6 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Treatment of Manifestations

Surveillance

The following are general guidelines, and the frequency of evaluations should be adjusted based on disease severity and needs of the affected individual. Individuals receiving ERT are typically evaluated more frequently (e.g., every 6 months).

Agents/Circumstances to Avoid

The obstructive lung disease that has been documented in older hemizygous males and heterozygous females is more severe in smokers; therefore, affected individuals should be discouraged from smoking.

Amiodarone has been reported to induce cellular and biochemical changes resulting in a phenocopy in particular of the keratopathy of Fabry disease [Whitley et al 1983]. Given potential effects on cellular levels of α-Gal A enzyme activity, it has been contraindicated in persons with Fabry disease. However, little evidence of a detrimental effect in this specific group exists and the relative benefit in individuals with cardiac arrhythmia should be considered.

Evaluation of Relatives at Risk

It is appropriate to evaluate apparently asymptomatic older and younger at-risk male and female relatives of an affected individual in order to identify as early as possible those who would benefit from initiation of treatment (ERT) and preventive measures [Germain et al 2021]. ERT should be initiated as early as possible in all males with Fabry disease and in heterozygous females with significant disease [Desnick et al 2003, Eng et al 2006] because all are at high risk for cardiac, cerebrovascular, and neurologic complications including transient ischemic attacks and strokes (see Targeted Therapies), and emerging evidence indicates improved benefit to individuals who start disease-specific treatment promptly after symptom onset or diagnosis. Evaluations can include the following:

• Molecular genetic testing capable of detecting the familial GLA pathogenic variant
• If the GLA pathogenic variant in the family is not known:
  • Males. Measure α-Gal A enzyme activity.
  • Females. Measurement of α-Gal A enzyme activity is unreliable in females although demonstration of decreased α-Gal A enzyme activity is diagnostic of the heterozygous state. If α-Gal A enzyme analysis is uninformative (i.e., if α-Gal A enzyme activity is in the normal range), perform molecular genetic testing first by GLA sequence analysis, and if no pathogenic variant is identified, by gene-targeted deletion/duplication analysis.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Gene replacement therapy has been investigated in the mouse model of Fabry disease [Ziegler et al 1999, Ziegler et al 2002, Ziegler et al 2004]. Trials of ex vivo gene therapy via autologous stem cell transplantation [Khan et al 2021] and in vivo gene therapy using adeno-associated virus vectors are being studied in Europe and elsewhere [Tuttolomondo et al 2019]. Systemic mRNA therapy is also being investigated [Zhu et al 2019].

Alternative enzyme therapy. A PEGylated version of recombinant α-Gal A with a longer circulating half-life is currently in a Phase III trial. A Phase II study of 16 individuals revealed an extended plasma half-life, reduction in peritubular capillary Gb3 inclusions, and stable renal function. Three individuals who initially developed anti-drug antibodies did not have detectable antibodies by one year of therapy [Schiffmann et al 2019].

Substrate reduction therapy for Fabry disease with lucerastat and venglustat is under evaluation in clinical trials.

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Mode of Inheritance

Fabry disease is inherited in an X-linked manner: hemizygous males are affected; heterozygous females may be as severely affected as males or asymptomatic throughout a normal life span.

Risk to Family Members

Parents of a male proband

• The father of a male proband will not have the disorder nor will he be hemizygous for the GLA pathogenic variant; therefore, he does not require further evaluation/testing.
• In a family with more than one affected individual, the mother of an affected male is an obligate heterozygote (carrier). Note: If a woman has more than one affected child and no other affected relatives and the GLA pathogenic variant cannot be detected in her leukocyte DNA, she most likely has germline mosaicism.
• If a male is the only affected family member (i.e., a simplex case), the mother of the affected male is likely heterozygous for the GLA pathogenic variant. Rarely, an affected male may have a de novo GLA pathogenic variant (in which case the mother is not a heterozygote) or the mother may have somatic/germline mosaicism.
• Molecular genetic testing of the mother is recommended to confirm her genetic status and to allow reliable recurrence risk assessment.

Sibs of a male proband. The risk to sibs depends on the genetic status of the mother:

• If the mother of the proband has a GLA pathogenic variant, the chance of transmitting it in each pregnancy is 50%:
  • Males who inherit the pathogenic variant will be affected. Although the specific pathogenic variant segregating in a family and the manifestations of the disorder in other family members with the pathogenic variant can give some indication of likely clinical manifestations, accurate clinical prediction in a sib found to have a GLA pathogenic variant is not possible.
  • Females who inherit the pathogenic variant will be heterozygotes. Heterozygous females may be asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. See Clinical Description, Heterozygous females.
• If the proband represents a simplex case and if the GLA pathogenic variant cannot be detected in the leukocyte DNA of the mother, the risk to sibs is low but greater than that of the general population because of the possibility of maternal germline mosaicism [Pianese et al 2019].

Offspring of a male proband. Affected males transmit the GLA pathogenic variant to all of their daughters and none of their sons. See Sibs of a male proband.

Parents of a heterozygous female

• A heterozygous female may have inherited the GLA pathogenic variant from either her mother or her father or the pathogenic variant may be de novo.
• Detailed evaluation of the parents and review of the extended family history may help distinguish females with a de novo pathogenic variant from those with an inherited pathogenic variant. Molecular genetic testing of the parents can help to determine if the pathogenic variant was inherited.

Sibs of a heterozygous female. The risk to sibs depends on the genetic status of the parents:

• If the mother has a GLA pathogenic variant, the chance of transmitting it in each pregnancy is 50%. See Sibs of a male proband.
• If the father has a GLA pathogenic variant, he will transmit it to all his daughters and none of his sons.
• If the heterozygous female represents a simplex case and if the GLA pathogenic variant cannot be detected in the leukocyte DNA of either parent, the risk to sibs remains greater than that of the general population because of the possibility of parental germline mosaicism. Parental germline mosaicism has been demonstrated in this condition [Dobrovolný et al 2005, Pianese et al 2019].

Offspring of a heterozygous female. Women with a GLA pathogenic variant have a 50% chance of transmitting the pathogenic variant to each child. See Sibs of a male proband.

Other family members. The risk to other family members depends on the status of the proband's parents: if a parent has the GLA pathogenic variant, the parent's family members may be at risk and should be offered clinical examination, genetic counseling, and molecular genetic testing.

Heterozygote Detection

Molecular genetic testing to identify female heterozygotes requires either prior identification of the GLA pathogenic variant in the family or, if an affected male is not available for testing, molecular genetic testing first by sequence analysis, and if no pathogenic variant is identified, by gene-targeted deletion/duplication analysis.

Measurement of alpha-galactosidase A (α-Gal A) enzyme activity is unreliable for heterozygote detection. Although demonstration of decreased α-Gal A enzyme activity in a female is diagnostic of the heterozygous state, some heterozygotes have α-Gal A enzyme activity in the normal range.

Related Genetic Counseling Issues

Fabry disease practice guidelines are available. See Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors [Laney et al 2013] and Fabry Disease Practice Resource: Focused Revision [Henderson et al 2020].

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

• The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
• It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are heterozygous, or are at risk of being heterozygous.

DNA banking. Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown). For more information, see Huang et al [2022].

Prenatal Testing and Preimplantation Genetic Testing

Molecular genetic testing. Once the GLA pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible. Note: Although the specific pathogenic variant segregating in a family and the manifestations of the disorder in male and female family members with the pathogenic variant can give some indication of likely clinical manifestations, accurate clinical prediction in a fetus found to have a GLA pathogenic variant is not possible.

Biochemical testing. If the karyotype is 46,XY, α-Gal A enzyme activity can be measured in fetal cells. (If the GLA pathogenic variant has been identified in an affected family member, the diagnosis can be confirmed by molecular genetic testing of fetal DNA.)

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.

Molecular Pathogenesis

GLA encodes alpha-galactosidase A (α-Gal A), a lysosomal exoglycohydrolase. normally responsible for removal of terminal galactose from globotriosylceramide, which along with its deacetylated derivative globotriaosylsphingosine (lyso-Gb3) accumulates in the relative absence of the enzyme.

Pathogenic mechanisms have been extensively reviewed [Kok et al 2021, Tuttolomondo et al 2021]. Enzyme deficiency leads to accumulation of Gb3 and particularly its deacylated form, lyso-Gb3 and its various isoforms, in plasma, urine, and lysosomes in a wide range of cells and tissues including the autonomic nervous system, dorsal root ganglia, kidney epithelial cells, vascular system cells, and myocardial cells. Lysosomal dysfunction leads to dysregulation of cell signaling pathways, which may disturb specific cellular functions (e.g., in podocytes) or calcium metabolism, or may trigger inflammatory pathways [Rozenfeld & Feriozzi 2017, Yogasundaram et al 2018, Braun et al 2019].

Impaired mitochondrial function and energy metabolism may not only contribute to cardiomyopathy and kidney disease but also disturb the autophagy-lysosomal pathway. Substrate accumulation also promotes endothelial dysfunction and structural changes in the vasculature, which contribute to cerebrovascular and cardiovascular complications.

Mechanism of disease causation. Reduction in enzyme activity. For example, some missense variants affect active site residues (functional variants), some missense variants affect folding of the enzyme (structural variants), and insertions/deletions, frameshift, and nonsense variants result in absent or very low residual α-Gal A activity. Missense variants may result in a misfolded enzyme with residual α-Gal A activity. Misfolded enzymes do not undergo normal processing from endolysosomal compartments into lysosomes and may be sequestered away from lysosomes.

Author History

Kenneth H Astrin, PhD; Mount Sinai School of Medicine (2001-2008)
Robert J Desnick, PhD, MD; Mount Sinai School of Medicine (2001-2008)
Derralynn A Hughes, MA, DPhil, FRCP, FRCPath (2008-present)
Atul Mehta, MA, MD, FRCP, FRCPath (2008-present)

Revision History

• 11 April 2024 (aa) Revision: Nowicki et al [2024] added to Chaperone Therapy
• 9 March 2023 (aa) Revision: targeted therapies (enzyme replacement therapy and chaperone therapy) linked as Key Section
• 27 January 2022 (sw) Comprehensive update posted live
• 5 January 2017 (sw) Comprehensive update posted live
• 17 October 2013 (me) Comprehensive update posted live
• 10 March 2011 (me) Comprehensive update posted live
• 26 February 2008 (me) Comprehensive update posted live
• 27 August 2004 (me) Comprehensive update posted live
• 5 August 2002 (me) Review posted live
• 17 September 2001 (rd) Original submission

Published Guidelines / Consensus Statements

• Bennett RL, Hart KA, O Rourke E, Barranger JA, Johnson J, MacDermot KD, Pastores GM, Steiner RD, Thadhani R. Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors (pdf). Available online. 2002. Accessed 11-7-23.
• Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019;96:107-17. [PubMed]
• Henderson N, Berry L, Laney DA. Fabry disease practice resource: focused revision. J Genet Couns. 2020;29:715-7. [PubMed]
• Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G. Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors. Available online. 2013. Accessed 11-7-23.
• Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123:416-27. [PubMed]

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