Zdravotničtí pracovníci


Current guidelines for disease
progression monitoring

Recommended assessments and schedule for monitoring organ involvement in adult patients with Fabry disease 1

Monitoring schedule


Complete history and physical examination including family history and evaluation of quality of life, gastrointestinal symptoms, work/study performance, level of depression/anxiety

Every clinic visit

α-Gal A enzyme activity and GLA mutation analysis.

If not previously determined


Renal Glomerular filtration rate (measured GFR [preferred] or estimated [eGFR] using appropriate formulae)

Annually if low risk, every 6 months if moderate risk, and every 3 months if high to very high risk; a measured GFR only once yearly because of complexity

Albuminuria (preferred, more sensitive) and/or proteinuria (24-h or spot urine for total protein/creatinine and albumin/creatinine ratios)

Annually if low risk, every 6 months if moderate risk, and every 3 months if high to very high risk

25 OH vitamin D

As clinically indicated; vitamin D levels in late fall/early winter

Kidney biopsy

As clinically indicated. Podocyte foot process effacement may precede pathological albuminuria


Blood pressure and cardiac rhythm

Every clinic visit

ECG and echocardiography

Annually, and as clinically indicated

48-h Holter monitoring to detect intermittent rhythm abnormalities; implantable loop recorder recommended for patients with significant hypertrophic cardiomyopathy

Annually, but may be assessed more or less frequently depending on age and other risk factors; if arrhythmias detected, more frequent/detailed rhythm surveillance should be instituted (schedule determined individually)

Cardiac MRI with gadolinium

If available, whenever there is evidence of clinical progression of disease or regularly at an interval > 2 years

Cardiac MRI with T1 mapping

Investigational tool, should be interpreted with caution


Brain natriuretic peptide

At least annually for patients with cardiomyopathy or bradycardia

Brain MRI (TOF MRA at first assessment in male patients aged over 21 and female patients over 30, then according to the clinical picture)

Every 3 years and when clinically needed (e.g., presence of neurological changes that could potentially relate to stroke)

CT imaging

In case of acute stroke and only if MRI is contraindicated due to cardiac pacing

Peripheral nervous system

Pain evaluation and history: pain measurement scale such as the Neuropathic Pain Symptom Inventory or Brief Pain Inventory


Cold and heat intolerance, vibratory thresholds (quantitative sensory testing, if available)

Annually (less frequently in older patients)

Autonomic symptom evaluation by orthostatic blood pressure


Skin biopsy (for IENFD assessment, if available)



Audiometry [17]

As required [17]


Spirometry, including response to bronchodilators, treadmill exercise testing, oximetry, chest X-ray

Every 2 years or more frequently for clinical indications; chest X-ray according to clinical indications


Referral to gastroenterology specialist for endoscopic or radiographic evaluation

If symptoms persist or worsen despite treatment

Overall glycolipid burden

Plasma and urinary sediment lyso-GL-3, GL-3

At baseline and then annually (at the moment, this is for research purposes only); biobanking of plasma/serum samples recommended if feasible


Bone dual-energy X-ray absorptiometry (DEXA)



Ophthalmological screening

Ophthalmological screening as clinically indicated


Monitoring schedule

Complete history and physical examination including family history and evaluation of quality of life, gastrointestinal symptoms, work/study performance, level of depression/anxiety

Every clinic visit

α-Gal A enzyme activity and GLA mutation analysis.

If not previously determined

Baseline values should always be obtained; longer intervals between more complex organ assessments can be considered in asymptomatic female patients with a normal initial evaluation and/or favorable X chromosome inactivation pattern.
CKD, chronic kidney disease; CT, computed tomography; ECG, electrocardiography; eGFR, estimated glomerular filtration rate; ENT, ear, nose, and throat; GFR, glomerular filtration rate; IENFD, intra-epidermal nerve fiber density; MRI, magnetic resonance imaging; TOF MRA, time-of-flight magnetic resonance angiography (head and neck).

A risk levels based on KDIGO 2012 chronic kidney disease classification scheme. Low risk, CKD Stage G1/2 A1; moderate risk, CKD stage G3a A1, G1/2 A2; high to very high risk CKD
Stage G4 or 5, G3b A1, G3 A3. 

Recent publications

This list contains a selection of recent publications on Fabry disease, not an exhaustive list.

Ortiz A, et al. Fabry disease revisited: management and treatment recommendations for adult patients.

Molecular genetics and metabolism. 2018;123(4):416-427.

View abstract

Germain DP, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Clinical genetics. 2019;96(2):107-117.

Wanner C, et al. European expert consensus statement on therapeutic goals in Fabry disease.

 Molecular genetics and metabolism. 2018;124(3):189-203.

Moreno-Martinez D, et al. Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. 

Molecular Genetics and Metabolism 2021;132(4):234-243.

Upcoming events

National Congresses


SIMMESN (Società Italiana per lo studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale)



SIN (National Nephrology Congress)



SSIEM Annual Metabolic Club meeting



SIMDG (Inherited Metabolic)



ISHG Irish Society of Genetics



MPS - Society and their member families


Past events

International Congresses

30 Aug-02 Sep


SSIEM Annual Symposium


06 Nov-09 Nov

Vienna, Austria

07 Feb-10 Feb

San Diego, CA

18th Annual WORLD Symposia


19 May-22 May

Paris, France

29 May-31 May

Würzburg, Germany

Fabry Disease Update


National Congresses

06 Oct-09 Oct


DGfN (Deutsche Gesellschaft für Nephrologie) Congress


20 Apr-23 Apr


DGK (Deutsche Gesellschaft für Kardiologie)


29 Jun-01 Jul

Nantes, France

SNFMI (société nationale française de médecine interne)


01 Jun-30 Jun


SFEIM (société française pour l’étude des erreurs innées du métabolisme)


11 Mar-14 Mar


7th Slovenian Congress of Nephrology


01 Nov-05 Nov

BERLIN, Germany

DGN (Deutsche Gesellschaft für Neurologie) Congress: "Neuroweek"


30 Mar-01 Apr

Madrid, Spain

XII Reunión de EEMM de la SEMI

01 Jun-30 Jun


11 Nov-14 Nov

Granada, Spain

52 Congreso de la SEN (Sociedad Española de Nefrología)


20 Oct-22 Oct

Palma, Spain

Congreso SEC (Spanish Society of Cardiology)


09 Jun-10 Jun

Newcastle, UK

BIMDG (British Inherited Metabolic Diseases Group)


Request further information

If you have more questions or would like to request further information, please do not hesitate to get in touch at grd.medinfo@chiesi.com


  1. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427. 



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