Fabry's disease differential diagnosis

Fabry’s disease is often misdiagnosed due to its rarity and wide range of non-specific clinical manifestations. Fabry’s disease be differentiated from various kind of condition based on the symptoms and organ involvement.

• Angiokeratoma: Fucosidosis^[1],Sialidosis (Juvenile form)^[2], Acral pseudolymphomatous angiokeratoma of childhood^[3]
• Hypohidrosis/Anhidrosis :Horner syndrome, Topiramate usage, Acetylcholine intoxication, Ectodermal dysplasia
• Hyperhidrosis: Primary hyperhidrosis^[4]
• Lymphedema: Chronic Venus insufficiency, Rheumatic disorders

• Pain (neuropathic): rheumatic disorders, fibromyalgia, headache (Cluster), migraine, diabetic neuropathy, recurrent fever syndromes, porphyria, uremic neuropathy , Guillain-Barre‘ syndrome, hereditary neuropathy

• Abdominal pain, diarrhea, constipation: Gastritis, duodenal ulcer, celiac disease, gastrointestinal hemorrhage, Crohn’s disease, ulcerative colitis, diverticulitis, functional dyspepsia, irritable bowel syndrome, familial Mediterranean fever

• Cornea verticillate :Therapy with amiodarone, flecainide, tamoxifen; fucosidosis
• Tortuositas vasorum: Diabetes mellitus, arterial hypertension, nephrotic syndrome, neurofibromatosis type 1, fibromuscular dysplasia, Rendu-Osler-Weber disease, Velocardiofacial syndrome
• Uveitis: Rheumatic disorders, tubulointerstitial nephritis and uveitis syndrome (TINU), Bechet’s disease, sarcoidosis, Crohn’s disease
• Conjunctival aneurysms: Kawasaki syndrome, Diabetes mellitus

• Acute/chronic hearing loss: apoplexy, multiple sclerosis, leopard syndrome
• tinnitus: otosclerosis, borreliosis, sudden deafness, Meniere’s disease, acoustic neurinoma
• Dizziness: benign paroxysmal positional vertigo, Meniere’s disease, vestibular neuritis, cerebellar/brain stem infarction

• Angina pectoris, myocardial infarction: Atherosclerosis
• Palpitations: atrial fibrillation, Wolf-Parkinson-White syndrome, hyperthyroidism, drug induced palpitations
• Cardiomyopathy: Mitochondriopathies, Long QT syndrome, myocarditis, Pompe disease, Niemann-Pick disease, hemochromatosis, Duchenne/Becker muscular dystrophy, neurofibromatosis type 1, systemic lupus erythematosus, rheumatoid arthritis, dermatomyositis
• Valvular disorders: Endocarditis, rheumatic disorders, mucopolysaccharidoses
• Impaired variability of cardiac frequency :Arterial hypertension, mitral valve prolapse, diabetes mellitus, Sjogren syndrome, MELAS syndrome, obstructive sleep apnea

• Proteinuria/progressive renal failure: Diabetes mellitus, arterial hypertension, glomerulonephritis, systemic lupus erythematosus, hemolytic-uremic syndrome, gout, amyloidosis, diabetes mellitus, Henoch-Schonlein purpura

• TIA, apoplexy, white matter lesions: Atherosclerosis, multiple sclerosis, mitochondriopathies, CADASIL^[5]