Faby Disease: Signss, Symptoms, & Treatment

Sometimes, the pain is causes by blood flow blockages caused by a build-up of globotriaosylceramide.

This will particularly affect small blood vessels such as those in the stomach and intestinal area. This

same build-up can affect the heart. Foamy urine in Fabry disease is caused by too much protein in the

urine. It is a sign of kidney damage, which can also occur due to excess globotriaosylceramide. The

kidneys are two organs located on each side of the spine, behind the stomach, which filter wastes from

the blood.

WHY ARE MALES AFFECTEC WITH FABRY DISEASE WORSE THAN FEMALES?

The mutation in DNA that causes Fabry disease is located on the X chromosome (see below) and is

categorized as an x-linked recessive disorder. The full form of the disease (with the most severe

symptoms) only occurs in males, although females can carry the gene that causes the disease and can

experience some mild to moderate symptoms. Genes are units of material contained in a person's

chromosomes, which are structures in the cells that contain coded instructions as for how certain bodily

characteristics (such as eye color) will develop.

All of a person's genes come from his/her parents. Genes can either be dominant or recessive. A gene

that masks the effect of another gene is called a dominant gene. The gene whose expression is masked is

known as a recessive gene. In females (who have two X chromosomes), the dominant gene on one X

chromosome can mask the effect of the recessive gene on the other X chromosome. This is known as x-

inactivation and is a random process. In males, there is only one X chromosome and so if the mutation is

present on that chromosome, there is no dominant X chromosome to mask its expression, which causes

males to be more likely to experience the disorder and have worse signs and symptoms.

Each person has 23 pairs of chromosomes, meaning that there are 46 chromosomes in total. One of each

pair of chromosomes is inherited from the mother and one of each pair is inherited from the father. The

first 22 pairs of chromosomes (known as autosomes) are not involved in determining sex. The 23rd pair of

chromosomes, however, is involved in determining sex.

The 23rd pair of chromosomes consist of X and/or Y chromosomes. An X chromosome is shaped like an

X, whereas a Y chromosome is shaped like a Y. If a person has two X chromosomes, the person will

develop as a female. If a person has an X and a Y chromosome, the person will develop as a male. The X

chromosome is much larger than the Y chromosome. The X chromosome has a few thousand genes

whereas the Y chromosome has only a few genes. For this reason, most of the genes on the X

chromosome have no counterpart on the Y chromosome.

HOW IS FABRY DISEASE DIAGNOSED?

Fabry disease is often misdiagnosed (due to its rarity) but is eventually diagnosed with blood tests

measuring the a-GAL A level. This should be present in very low levels for males. However, females with

the disease can have normal levels of a-GAL A even if they have symptoms. This is because one of the

genes causing the condition may be inactivated in females. This is why the most accurate way to

diagnose the condition is to analyze the chromosomes under a microscope and study the gene that is

supposed to make the a GAL A enzyme to look for mutations. Since the kidneys can be affected in Fabry

disease, a tissue sample (biopsy) of the kidneys can be consistent with Fabry disease if too much

globotriaosylceramide is present.

HOW IS FABRY DISEASE TREATED?

There is no current cure for Fabry disease. For most people, the treatment if focused on whatever

specific signs and symptoms the patient presents with. For those who can afford it (cost = $200,000 in

U.S. dollars) there is a treatment known as enzyme replacement therapy (ERT) which attempts to infuse

the deficient enzyme into the body so it can clear the body of globotriaosylceramide (see causes section).

This treatment can slow the advancement of the disease and eliminate some signs and symptoms. There

are two types of ERTs for Fabry disease.

WHAT IS THE PROGNOSIS OF EOPLE WITH FABRY DISEASE?

Males with Fabry disease usually live for 40 to 60 years. Common causes of death in Fabry disease

include stroke, heart failure, and kidney failure.

WHAT ELSE IS FABRY DISEASE KNOWN AS?

Fabry disease is also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis

diffusum and alpha-galactosidase A deficiency.

WHY IS IT CALLED FABRY DISEASE?

Fabry disease was named after one of the disease’s discoverer’s, Johannes Fabry, a German

dermatologist (skin doctor).