Skip to main content

Table 3 Clinical manifestations suggestive for common misdiagnoses [1, 4, 7, 10, 134,135,136]

From: Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

Medical specialty

Misdiagnosis

Fabry symptom/sign

Neurology

Multiple sclerosis

Stroke

Chronic small fiber neuropathy

Pain, tingling in hands and feet

Raynaud syndrome

Pain/ abnormal thermal sensitivity in extremities

Neurosis/malingering

Unexplained acute pain episodes

Rheumatology

Rheumatoid or juvenile arthritis

Joint pain, increased erythrocyte sedimentation rate

Rheumatic fever

Pain accompanied by fever and increased ESR

Autoimmune disorder/lupus

Angiokeratomas

Growing pains

Unexplained pain in limbs

Nephrology

(Glomerulo) nephritis

Renal insufficiency

Cardiology

Carditis

Mitral murmur

Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy

Dermatology

Petechiae

Angiokeratoma

Internal medicine/gastroenterology

Vasculitis

Microvascular disease

Inflammatory bowel disease

Diarrhea, abdominal discomfort, N/V

Appendicitis

Severe abdominal pain in the right iliac fossa

Renal colic

Severe abdominal pain

  1. ESR: Erythrocyte sedimentation rate; N/V: Nausea/vomiting