Paresthesia

Get the details on paresthesia.

Fabry disease

Fabry disease is an illness that can lead to paresthesia. It is a rare condition, and is hereditary in nature.

Symptoms

Medical signs and symptoms that show up in Fabry disease are often first gone through during the early part of the patient's childhood. Pain can be felt throughout the body, and in some cases is only noted in particular locations, like the gastrointestinal tract, or the extremities. High blood pressure may impact the individual. Exhaustion is something that may also be present. Ringing in the ears is another symptom that can appear in patients who have Fabry disease.

Sweating may be affected, normally by a lack of it, but in some cases the situation is reversed and perspiration is excessive. Protein may be found in the urine, which can point to a kidney issue. Kidney failure can occur in the patient, and it may intensify over time. One of the other symptoms that might show up is vertigo, which is a form of dizziness in which the patient feels as though motion is occurring while he is actually not moving.

Causes

This condition is hereditary. It involves X-linked recessive gene mutations.


Diagnosis

A doctor is involved in diagnosing a case of Fabry disease. When symptoms associated with this condition are found in the patient, then the disease is often considered as being behind them. It is diagnosed through blood testing that checks the activity of alpha-galactosidase. This method does not always work, though, in the case of carriers who are female. In some cases, a kidney biopsy is performed.

Treatment

Until recently, treatments for Fabry disease were designed to assist with symptoms. Now, there are some medications that try to replace enzyme deficiencies. As of the time of this writing, they were still particularly expensive, coming in at around a quarter of a million U.S. dollars per year of treatment. Even these methods do not cure the condition, but might provide regular metabolism, and could impede the advancement of the disease. There is also the possibility that this treatment may be useful in removing symptoms that have affected the patient.

Read further on paresthesia, or you can also go right to a list of other medical causes of it.