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About the Disease:

Patients suffering with Fabry’s disease do not possess adequate amount of enzyme called alpha-galactosidase A. This enzyme generally helps in breaking down a fatty substance knwn as globotriaosylceramide (GL-3). If there is lack of this enzyme, GL-3 cannot be decreased and leads to building up of the body’s cells like kidney cells. People suffering with this disorder may possess an ample range of signs and symptoms, with reference to serious conditions such as kidney failure, heart issues like stroke. As the probability of patients suffering with this disease is low, disease is hence considered as ‘rare’.

Diseases caused with reference of lacking in α-galactosidase and described by abnormal accumulation of neutral glycolipid (globotriaosylceramide) in endothelial cells with blood vessel walls. Clinical discovery contains angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in the extremities, cornea verticillata, and spokelike posterior subcapsular cataracts. Death can be concluded from renal, cardiac, or cerebrovascular complications; X-linked passive legacy is generated by variation of α-galactosidase gene (GLA) on Xq.

A milder form of this disease is most frequent in females, and rarely some affected females may possess serious indications alike to males with this disorder.  Symptoms generally start in childhood or adolescence and involve like: burning sensations in the hands that gets worse with exercise and hotness in weather and small, non-cancerous, increased reddish-purple blemishes on upper layer of the skin.  Some boys will also possess or victim symptoms like: eye manifestations, mainly cloudiness of the cornea of the eye.  Lipid depot may result to damaged arterial circulation and develops risk of heart attack or stroke at a higher rate.  The chances of heart become enlarged and kidneys becoming progressively involved are high in men.  Other signs may evolve as decreased or lower sweating, fever, and gastrointestinal issues.

How common is the Disease?

Fabry’s Disease afflicted probability of 1 in 40,000 to 60,000 males. This disorder can also be seen in females, although less frequently. Milder, late-onset type of this disorder are found to be more probably and common as compared to the classic or severe form of the disease.

Metabolic Defect

The physique deliberately functions metabolic processes which helps in producing, recycling and removal of vital compounds. Patients with this disorder form such compound of three sugars and a fatty substance called globotriaosylceramide which does not get broken down in any case due to missing or non-functioning enzyme present called alpha - galactosidase A. Thus, when this fatty compound i.e. lipid is not being broken down or removed by any chance, it initiates to gather or amass. Thus, this disease is commonly attributed to as a "storage disorder" caused because of the abnormal accumulation.

In patients with this disease, the accumulation or build-up takes place commonly in blood and in walls of blood vessels. As the exceptional depot of this fatty compound develops with time, the channels of these vessels turns out to be narrower, resulting in low blood flow and less nourishment or enhancement of tissues usually offered by these vessels. This unusual movement takes place in blood vessels in all parts of the body, especially affecting vessels in skin, kidneys, heart, brain and nervous system.

What are the symptoms of disease?

Fabry’s disease is one of assorted lipid depot clutter.

A few women, who bear the genetic mutation, may possess symptoms of disease. Symptoms usually starts during childhood or adolescence and include: burning like sensations in hands that gets worse with practicing exercise and hot weather, and small, raised reddish-purple blemishes on upper layer of the skin.

Some boys may also victim eye manifestations, mainly cloudiness of the cornea o the eye. Lipid depot may result in impaired arterial circulation and develops risk of heart attack or stroke. Results to heart may be it enlarges whereas the kidneys may become deliberately complicated.

Other symptoms of this disease may include: reduced sweating, fever, and gastrointestinal difficulties, mostly post eating.

How is disease Diagnosed?

The disease is diagnosed on basis of the individual's clinical appearance, and can be analyzed by an enzyme assay which is usually done on leukocytes to measure the level of alpha-galactosidase activity. An enzyme analysis is not dependable for diagnosis of disease in females caused by incidental nature of X-inactivation. Molecular genetic analysis of GLA gene is most appropriate procedure of analysis in females, mostly in case mutations already contains which is been recognized in male family members. Number of disease-generating mutations has been noted. Kidney biopsy is also highly recommended if enormous lipid buildup is observed. Pediatricians, as well as internists, usually misdiagnose this disease.

The doctor may suspect the disease if patient has come across signs and symptoms. If one of patient's relatives or people around may be found to inhibit disease, the physician will recommend a blood test to know level of a-GAL A activity.

Screening females for the disease is not so simple, as blood test cannot be easily relied on their is complete possibility of getting misleading, because of the random nature of X-inactivation, i.e. the faulty gene may not be working, so the enzyme won't be afflicted in any ways.

Treatment for Fabry disease:

The most frequent treatment practiced for this disease may be enzyme replacement which is effective in slowing and reducing advancement of disease. The ache victim in hands and feet generally reacts to anticonvulsants such as phenytoin (Dilantin) and carbamazepine (Tegretol, Tegretol XR, Equetro, Carbatrol). Gastrointestinal hyperactivity could be deal along with metoclopramide like Reglan, Octamide, Maxolon. At extreme cases few individuals may need dialysis or kidney transplantation.


Patients with this disorder mostly survive into adulthood but are at developed risk of strokes, heart attack and various heart disease, and kidney failure.

Life expectancy along with this disease for males is 58.2 years, compared with 74.7 years in the normal expected population, and for females 75.4 years compared with 80.0 years in general population, this data is based on counting done according to registry data from 2001 to 2008. The most common and main cause of death noticed was cardiovascular disease, and mainly of those who have practiced kidney replacements.