Neurological Disorders: Fabry Disease

Fabry Disease is an example for inherited metabolic disorders, and more specifically speaking it is a type of lysosomal storage disorder.

Lysosomes are important structures inside the body cells and participate in the metabolism of several food & other substances. Generally the dysfunction of lysosomes takes place due to inherited genetic disorders, causing certain enzyme deficiencies.

In the case of Fabry’s disease an enzyme by name alpha galactosidase is deficient. This causes abnormal accumulation of a substance called ceramide-trihexoside in various tissues & organs and causes their damage.

This disease is an x linked recessive type of disorder. This means women are carriers and men are affected.

How does a patient manifest?

As above the typical patient belongs to male gender. Generally the disease starts manifesting around child hood then slowly progresses.

Since this disease affects many different organs & tissues there are usually varieties of manifestations. This condition is rare so unless a high index of suspicion is present the diagnosis can be missed easily.

The following manifestations are generally seen;

• Abnormal skin rashes called angiokeratoma
• Painful peripheral neuropathy
• Gastro intestinal pain, diarrhoea
• Kidney problems
• Strokes, mini strokes
• High blood pressure
• Sweating abnormalities
• Eye abnormalities etc

A gentic test for GLA gene mutation is the most definitive test for this condition. Estimation of the enzyme alpha galactosidase in the blood is another option.

Additional tests are needed to rule out individual organ involvement like kidney function tests, neuropathy tests, stroke tests, gastrointestinal & heart tests etc.

Still no curative treatments are available however the availability of ERT (enzyme replacement therapy) has come as a big boon to these patients. This treatment shows favorable effects on the disease progression and symptoms. But it is quite expensive so still cannot be recommended on a routine basis for all patients.

A neurologist is frequently involved in the care of patients with Fabry Disease.