Table 2. Range of possible differential diagnoses.

Organ (system)	Symptoms of Fabry disease	Possible differential diagnoses and/or misdiagnoses
Skin	Angiokeratoma	Fucosidosis, sialidosis, N-acetylgalactosamine deficiency, acral pseudolymphomatous angiokeratoma of childhood
	Hypohidrosis/anhidrosis	Horner syndrome, therapy with topiramate, acetylcholine intoxication, ectodermal dysplasia
	Hyperhidrosis	Primary hyperhidrosis
	Lymphedema	Chronic venous insufficiency, rheumatic disorders
Peripheral nervous system	(Neuropathic) pain	Rheumatic disorders, fibromyalgia, (cluster) headache, migraine, diabetic neuropathy, recurrent fever syndromes (for example, TRAPS), porphyria, uremic neuropathy, Guillain-Barré syndrome, hereditary neuropathy
Gastrointestinal tract	Abdominal pain, diarrhea, constipation, delayed intestinal passage	Gastritis, duodenal ulcer, celiac disease, gastrointestinal hemorrhage, Crohn’s disease, ulcerative colitis, diverticulitis, functional dyspepsia, irritable bowel syndrome, familial Mediterranean fever
Eyes	Cornea verticillata	Therapy with amiodarone, flecainide, tamoxifen; fucosidosis
	Tortuositas vasorum	Diabetes mellitus, arterial hypertension, nephrotic syndrome, neurofibromatosis type 1, fibromuscular dysplasia, Rendu-Osler-Weber disease, velocardiofascial syndrome
	Uveitis	Rheumatic disorders (for example, juvenile idiopathic arthritis, ankylosing spondylitis), tubulointerstitial nephritis and uveitis syndrome (TINU), Behçet’s disease, sarcoidosis, Crohn’s disease
	Conjunctival aneurysms	Kawasaki syndrom,Diabetes mellitus
Ears	Acute/chronic hearing loss	Apoplexy, multiple sclerosis, leopard syndrome
	Tinnitus	Otosclerosis, borreliosis, sudden deafness, Menière’s disease, acoustic neurinoma
	Dizziness	Benign paroxysmal positional vertigo, Menière’s disease, vestibular neuritis,cerebellar/brain stem infarction
Heart	Angina pectoris,myocardial infarction	Atherosclerosis
	Palpitations	Atrial fibrillation, Wolf-Parkinson-White syndrome, hyperthyroidism, drug induced palpitations
	Cardiomyopathy	Mitochondriopathies, Long QT syndrome, myocarditis, Pompe disease, Neimann-Pick disease, hemochromatosis, Duchenne/Becker muscular dystrophy, neurofibromatosis type 1, systemic Lupus erythematodes, rheumatoid arthritis, dermatomyositis
	Valvular disorders	Endocarditis, rheumatic disorders, mucopolysaccharidoses
	Impaired variability of cardiac frequency	Arterial hypertension, mitral valve prolapse, diabetes mellitus, Sjögren syndrome, MELAS syndrome, obstructive sleep apnea
Kidneys	Proteinuria/progressive renal failure	Diabetes mellitus, arterial hypertension, glomerulonephritis, systemic lupus erythematodes, hemolytic-uremic syndrome, gout, amyloidosis, diabetes mellitus, Schönlein-Henoch nephritis
Central nervous system	TIA, apoplexy, white matter lesions	Atherosclerosis, multiple sclerosis, mitochondriopathies, CADASIL

TRAPS, TNF-receptor-associated periodic fever;

MELAS, mitochondrial encephalopathy, lactic acidosis, stroke-like symptoms;

CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy