Table 1.

Signs and symptoms of FD in children according to the literature

Sign/symptom	Frequency	Age of onset
Pain Dysesthesia/episodic crisis of burning in hands or feet	49.7% (58.8% boys, 40.5% girls)14 72.3%47 66% (67% boys, 65% girls)4 63% (67% boys, 59% girls)15	2‐4 years52 Median: 7 years boys, 9 years girls14 10.1 years boys,3 15 years girls2 Median: 7.2 years boys, 8.3 years girls15
Reduced sweating Hypohidrosis or anhidrosis (not sweating enough)	25.3% (28.4% boys, 22.2% girls)14 59% (93% boys, 25% girls)4 43.1% (69% boys, 17.2% girls)15	2.5 years52 Hypohidrosis (median) 10.1 years boys, 4.2 years girls15 Anhidrosis (median): 7.8 years boys, no cases for girls
Corneal signs Corneal whorls/cornea verticillata	71.5% (73% boys, 70% girls)4 50%46 Cornea verticillata: 50.8% (36.1% boys, 65.5% girls)14	Newborn52 Median (range): 8.1 (2‐15) years46 Cornea verticillata (median) 12.1 years boys, 8.9 years girls15
Gastrointestinal symptoms Nausea, vomiting, non‐specific abdominal pain, constipation, diarrhoea	17.9% (23.2% boys, 11.4% girls)14 30% (boys 40%, girls 20%)4 49.8%28	Median: 5 years boys, 9.5 years girls14 1‐4.1 years52 1‐17.8 years15
Heat/cold/exercise intolerance	Heat: 25.3%, cold 14%14 Heat: 38.4% (38.9% boys, 37.9% girls)15 Cold: 17% (16.7% boys, 17.2% girls)15	3.5 years52 Heat (median) 7.4 years boys, 15.7 years girls15 Cold (median) 5.0 years boys, 7.7 years girls15
Hearing problems Hearing loss, tinnitus and vertigo	Confirmed hearing loss: 19%,48 12.8%,47 21.8% (19.4% boys, 24.1% girls)15 Tinnitus: 31.8%,48 40% (22.2% boys, 41.3% girls)15 Vertigo 25.5%,48 30.4% (19.4% boys, 41.4% girls)15	4 years52 Tinnitus (median): 10 years boys, 13.9 years girls15 Vertigo (median): 11.8 years boys, 13.4 years girls15 Hearing loss (median): 2.7 years boys, 14.4 years girls15
Angiokeratomas	14.2% (19.6% boys, 7.6% girls)14 43.5% (boys 57%, girls 30%)4 40% (42% boys, 38% girls)15	Median: 7 years boys, 9.5 years girls14 Median: 9.1 years boys, 14.4 years girls15
Renal signs Hyperfiltration, pathological albuminuria, proteinuria	Hyperfiltration: unknown Microalbuminuria: 13.2%15 Proteinuria: 19.7%15	Microalbuminuria (median): 16.5 years boys, 15.9 years girls15 Proteinuria (median): 13.8 years boys, 14.1 years girls15
Cardiac signs Conduction abnormalities, valvular dysfunction, arrhythmias	Conduction abnormalities: 7.6% (8.3% boys, 6.9% girls),15 6.8% (9.7% boys, 3.8% girls)14 Valve disease: 14.9% (5.6% boys, 24.1% girls),15 18.3% (22.6% boys, 13.9% girls)14 Arrhythmias: 1.4% (2.8% boys, 0% girls),15 4.9% (7.3% boys, 2.5% girls)14	Conduction abnormalities: (median): 10.3 years boys, 16.9 years girls15 Valve disease: (median): 8.6 years boys, 14.4 years girls15 Arrhythmias: (median): 9.3 years boys15

Abbreviation: FD, Fabry disease.