Fabry Disease: Diagnostic Keys and Differentiation of Neurological Processes in Alpha-Galactosidase Deficiency and Multiple Sclerosis

Fabry disease is a lysosomal storage disorder linked to the X chromosome, caused by alpha-galactosidase A deficiency. This enzymatic deficiency leads to the accumulation of globotriaosylceramide in various tissues, including the nervous system, resulting in a range of clinical manifestations. Among the most common symptoms are neuropathic pain, episodes of pain in the extremities (acroparesthesias), and cerebrovascular complications. Early and accurate identification of Fabry disease is crucial for differentiating it from other neurological processes, such as multiple sclerosis, and for initiating appropriate treatment.

Neurological Manifestations and Differential Diagnosis

The neurological manifestations of Fabry disease can be diverse and often overlap with other neurological conditions. Neuropathic pain is a prominent feature, often described as a burning sensation or acroparesthesia, which can be confused with neuropathies of other etiologies. Additionally, patients may present cerebrovascular events, such as transient ischemic attacks and strokes, which are more common in young patients and can be mistaken for multiple sclerosis due to the presence of white matter lesions on magnetic resonance imaging.

The diagnosis of Fabry disease is based on the identification of alpha-galactosidase A deficiency in plasma or leukocytes, confirmed by genetic testing to detect mutations in the GLA gene. It is essential to differentiate this disease from other neurological conditions, such as multiple sclerosis, which can also present with white matter lesions and similar neurological symptoms. The presence of characteristic corneal opacities can be a useful clinical clue in the differential diagnosis.

Conclusions

Fabry disease is a multisystemic condition that requires a careful diagnostic approach to differentiate it from other neurological processes. Early identification of symptoms, such as neuropathic pain and cerebrovascular complications, along with specific diagnostic tests, are essential for appropriate management. Early treatment with enzyme replacement therapy and other interventions can significantly improve the quality of life for patients. Multidisciplinary collaboration and awareness of this rare disease are fundamental to optimizing clinical outcomes.

Referencias

• [1] Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features
• [2] Neurological complications of Anderson-Fabry disease
• [3] Small fiber neuropathy: Diagnosis, causes, and treatment
• [4] Fabry disease revisited: Management and treatment recommendations for adult patients

Created 13/1/2025