Differential diagnosis

Symptoms may appear in childhood, but may go unrecognized or may be attributed to other causes/diseases. The result may be a delay in diagnosis whereupon organ system damage may already have occurred. Germain DP. Fabry Disease. Orphanet J Rare Dis. 2010;5:30.<br /> Laney et al. Fabry disease in infancy and early childhood: a systematic literature review. Genetic in Medicine 2015;17(5):323-30.  Furthermore, the wide spectrum of clinical phenotypes and heterogeneity of onset and progression between individuals all adds to the complexity in diagnosis. Early diagnosis of Fabry disease is important to limit the risk of permanent organ damage, early morbidity and death. Germain DP. Fabry Disease. Orphanet J Rare Dis. 2010;5:30.

Fabry disease should be considered in the differential diagnosis of fever, pain, and skin lesions of unknown origin, or in stroke, unexplained left ventricular hypertrophy or renal disease of unknown etiology. For more information on signs and symptoms, please click here.

Misleading signs and symptoms

Many of the signs and symptoms of Fabry disease are similar to those occurring in other more common conditions. This can make diagnosing Fabry disease challenging and may lead to misdiagnosis. Common misdiagnoses include:  Germain DP. Fabry Disease. Orphanet J Rare Dis. 2010;5:30.        

Fabry disease symptom

May be diagnosed as

Abdominal pain (severe)

Acute appendicitis

Acute pain in extremities

Erythromelalgia, ‘growing pains’

Acute pain with no apparent cause



Lupus, petechiae

Joint pain and Elevated erythrocyte sedimentation rate

Juvenile or rheumatoid arthritis

GI problems

Chronic fatigue syndrome, lupus

Pain and temperature sensitivity in extremities

Raynaud's syndrome

Stroke-like events in brainstem structures

Multiple sclerosis