Resources

Assessment
Complete history and physical examination including family history and evaluation of quality of life, gastrointestinal symptoms, work/study performance, level of depression/anxiety
Monitoring schedule: Every clinic visit

Assessment
α-Gal A enzyme activity and GLA mutation analysis.
Monitoring schedule: If not previously determined

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

Assessment
Albuminuria (preferred, more sensitive) and/or proteinuria (24-h or spot urine for total protein/creatinine and albumin/creatinine ratios)
Monitoring schedule: Annually if low risk, every 6 months if moderate risk, and every 3 months if high to very high risk

Assessment
25 OH vitamin D
Monitoring schedule: As clinically indicated; vitamin D levels in late fall/early winter

Assessment
Kidney biopsy
Monitoring schedule: As clinically indicated. Podocyte foot process effacement may precede pathological albuminuria

Assessment
Blood pressure and cardiac rhythm
Monitoring schedule: Every clinic visit

Assessment
ECG and echocardiography
Monitoring schedule: Annually, and as clinically indicated

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

Assessment
Cardiac MRI with gadolinium
Monitoring schedule: If available, whenever there is evidence of clinical progression of disease or regularly at an interval > 2 years

Assessment
Cardiac MRI with T1 mapping
Monitoring schedule: Investigational tool, should be interpreted with caution

Assessment
Brain natriuretic peptide
Monitoring schedule: At least annually for patients with cardiomyopathy or bradycardia

Assessment
Brain MRI (TOF MRA at first assessment in male patients aged over 21 and female patients over 30, then according to the clinical picture)
Monitoring schedule: Every 3 years and when clinically needed (e.g., presence of neurological changes that could potentially relate to stroke)

Assessment
CT imaging
Monitoring schedule: In case of acute stroke and only if MRI is contraindicated due to cardiac pacing

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

Assessment
Cold and heat intolerance, vibratory thresholds (quantitative sensory testing, if available)
Monitoring schedule: Annually (less frequently in older patients)

Assessment
Autonomic symptom evaluation by orthostatic blood pressure
Monitoring schedule: Annually

Assessment
Skin biopsy (for IENFD assessment, if available)
Monitoring schedule: Consider

Assessment
Audiometry
Monitoring schedule: As required

Assessment
Spirometry, including response to bronchodilators, treadmill exercise testing, oximetry, chest X-ray
Monitoring schedule: Every 2 years or more frequently for clinical indications; chest X-ray according to clinical indications

Assessment
Referral to gastroenterology specialist for endoscopic or radiographic evaluation
Monitoring schedule: If symptoms persist or worsen despite treatment

Assessment
Plasma and urinary sediment lyso-GL-3, GL-3
Monitoring schedule: At baseline and then annually (at the moment, this is for research purposes only); biobanking of plasma/serum samples recommended if feasible

Assessment
Bone dual-energy X-ray absorptiometry (DEXA)
Monitoring schedule: Consider

Assessment
Ophthalmological screening
Monitoring schedule: Ophthalmological screening as clinically indicated