Aktuelle Empfehlungen für
die Überwachung der
Organbeteiligung1
Aktuelle Empfehlungen für die Überwachung der Organbeteiligung1
General
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
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
Cardiac
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
Cerebrovascular
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
Annually
Cold and heat intolerance, vibratory thresholds (quantitative sensory testing, if available)
Annually (less frequently in older patients)
Autonomic symptom evaluation by orthostatic blood pressure
Annually
Skin biopsy (for IENFD assessment, if available)
Consider
ENT
Audiometry [17]
As required [17]
Pulmonary
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
Gastrointestinal
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
Skeletal
Bone dual-energy X-ray absorptiometry (DEXA)
Consider
Ophthalmological
Ophthalmological screening
Ophthalmological screening as clinically indicated
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
Pain evaluation and history: pain measurement scale such as the Neuropathic Pain Symptom Inventory or Brief Pain Inventory
Annually
Cold and heat intolerance, vibratory thresholds (quantitative sensory testing, if available)
Annually (less frequently in older patients)
Autonomic symptom evaluation by orthostatic blood pressure
Annually
Skin biopsy (for IENFD assessment, if available)
Consider
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
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)
Consider
Ophthalmological screening
Ophthalmological screening as clinically indicated
Diese Liste enthält eine Auswahl aktueller Veröffentlichungen über Morbus Fabry und erhebt keinen Anspruch auf Vollständigkeit.
Molecular genetics and metabolism. 2018;123(4):416-427.
Clinical genetics. 2019;96(2):107-117.
Molecular genetics and metabolism. 2018;124(3):189-203.
Molecular Genetics and Metabolism 2021;132(4):234-243.
Italy
SIMMESN (Società Italiana per lo studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale)
https://www.simmesn.it/it/Italy
SIN (National Nephrology Congress)
https://sinitaly.orgJerusalem
SSIEM Annual Metabolic Club meeting
https://www.ssiem.orgUK
SIMDG (Inherited Metabolic)
https://www.simd.orgUK
ISHG Irish Society of Genetics
https://ishg.ieUK
MPS - Society and their member families
https://mpssociety.org30 Aug-02 Sep
FREIBURG, Germany
SSIEM Annual Symposium
https://www.ssiem.org06 Nov-09 Nov
Vienna, Austria
07 Feb-10 Feb
San Diego, CA
18th Annual WORLD Symposia
https://worldsymposia.org19 May-22 May
Paris, France
ERA 2022 Congress
https://www.era-online.org/en29 May-31 May
Würzburg, Germany
Fabry Disease Update
https://www.fabryupdate.com06 Oct-09 Oct
Germany
DGfN (Deutsche Gesellschaft für Nephrologie) Congress
https://www.dgfn.eu/jahreskongress.html20 Apr-23 Apr
Germany
DGK (Deutsche Gesellschaft für Kardiologie)
https://dgk.org29 Jun-01 Jul
Nantes, France
SNFMI (société nationale française de médecine interne)
https://www.snfmi.org01 Jun-30 Jun
France
SFEIM (société française pour l’étude des erreurs innées du métabolisme)
https://www.sfeim.org11 Mar-14 Mar
Slovenia
7th Slovenian Congress of Nephrology
https://snk2021.com01 Nov-05 Nov
BERLIN, Germany
DGN (Deutsche Gesellschaft für Neurologie) Congress: "Neuroweek"
https://dgn.org01 Jun-30 Jun
Spain
MPS LISOSOMALES
https://www.mpsesp.org/portal1/h_index.php11 Nov-14 Nov
Granada, Spain
52 Congreso de la SEN (Sociedad Española de Nefrología)
https://www.aforocongresos.com20 Oct-22 Oct
Palma, Spain
Congreso SEC (Spanish Society of Cardiology)
https://web.congresosec.org09 Jun-10 Jun
Newcastle, UK
BIMDG (British Inherited Metabolic Diseases Group)
https://www.bimdg.org.ukWenn Sie noch Fragen haben oder weitere Informationen anfordern möchten, können Sie uns gern:
Morbus Fabry Selbsthilfegruppe: info@morbus-fabry.eu
Pro Rare Austria (österreichische Patientenorganisation für Seltene Erkrankungen): office@prorare-austria.org
Referenzen:
Patient:innen und Betreuer:innen: Wenn Sie Nebenwirkungen (unerwünschte Arzneimittelwirkungen) bemerken, wenden Sie sich an Ihren Arzt/Ihre Ärztin oder Apotheker:in. Sie können Nebenwirkungen auch direkt dem Bundesamt für Sicherheit im Gesundheitswesen – BASG, Traisengasse 5, 1200 Wien, anzeigen.
Medizinisches fachpersonal: Wir möchten Sie darauf hinweisen, dass Sie entsprechend des nationalen Arzneimittelgesetz und Pharmakovigilanzverordnung aufgefordert sind, jeden Verdachtsfall einer Nebenwirkung dem Bundesamt für Sicherheit im Gesundheitswesen – BASG, Traisengasse 5, 1200 Wien.
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