Reviewed By: Pramod Kerkar, MD, FFARCSI

Can Anderson's Disease Go Away On Its Own?

No cases of spontaneous remission of the disease have been documented so far. Anderson-Fabry disease is a rare inherited disease that consists of a disorder of lipid metabolism. This metabolic disorder is due to the hereditary deficit of an enzyme called alpha-galactosidase. This enzyme plays an important role in the degradation of the metabolites of the fat in the cells of the organism. In Fabry disease, this degradation is not carried out or reduced, so fats accumulate in different cells. This disease owes its name to the German doctor Johann Fabry who, simultaneously to the British dermatologist William Anderson, was the first to describe the typical symptoms of the disease at the end of the 19th century.

Incidence

Fabry disease has hereditary causes: the metabolic disorder is triggered by a change in genetic information (called a mutation). This change damages a specific hereditary carrier (gene), the gene called alpha-galactosidase. This genetic defect responsible for Fabry disease can have different effects:

-Total lack of the enzyme alpha-galactosidase in the body.

-Partial lack of the enzyme; that is, the body produces it in low concentrations.

-The enzyme is present in an inactive form.

-The enzyme is present in a weak active form.

Alpha-galactosidase is an essential enzyme for human metabolism, as it is responsible for the breakdown of certain fatty substances that form the components of the cell membrane. In Fabry disease, the activity of this enzyme is insufficient or non-existent, so fats in the body have little or no decomposition. As a result, these fats are deposited in various cells (such as muscle cells in blood vessels and nerve cells) which causes the typical symptoms of Fabry disease.

The underlying causes of Fabry disease are hereditary. Those affected can transmit the genes that cause this hereditary disease to their children. This inheritance is made through the so-called inheritance of the X chromosome. The human genetic material consists of 46 strands carrying genetic information, the chromosomes. These are created in pairs, so each person has 23 pairs of chromosomes, which consist of the so-called sex chromosomes (XX in women and XY in men). The genetic defect responsible for Fabry disease is found on the X chromosome.

In Fabry disease, there is a significant latency period between the onset of symptoms and diagnosis (about eight years after the onset of the first symptoms). The disease can be suspected with the following signs and symptoms:

-Changes in the eyes (without loss of sight).

-Changes in skin color like reddish to bluish black.

-Decrease in perspiration.

-Pain in hands or feet

-Decreased hearing (hearing loss).

-Presence of proteins in urine in an analytic (proteinuria).

The confirmation diagnosis is obtained by measuring the amount of the alpha-galactosidase enzyme in the blood, lacrimal fluid or tissues obtained by biopsy. A genetic test to detect the genetic mutation of Fabry disease is also available for diagnosis. A prenatal diagnosis can also be made by culturing amniocytes, a chorionic villus sample or amniocentesis.

Because some diseases such as multiple sclerosis or rheumatic diseases can present symptoms similar to Fabry disease, it is important to rule them out in the diagnostic study.

Prevention

Because Fabry's disease is hereditary, it cannot be prevented. However, adopting the appropriate therapeutic measures can favorably influence the course of this hereditary disease. For this, an early diagnosis is particularly important.

By carrying out a replacement treatment of the enzyme in time after the diagnosis of Fabry disease, one can avoid the potentially deadly progression of the untreated disease and also avoid further damage to the organs. With the help of prenatal diagnosis, Fabry disease can be diagnosed in the fetus from the 15th week of pregnancy.

Conclusion

The first symptoms occur in childhood affecting the most important organs: the kidneys, the heart and the brain. Without treatment, the quality of life in these patients is significantly affected and the average life expectancy is reduced between 40 to 50 years.

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: July 24, 2018

This article does not provide medical advice. See disclaimer

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