Reviewed By: Pramod Kerkar, MD, FFARCSI

Fabry's disease was first described in 1898 by German dermatologist Johannes Fabry and Englishman William Anderson.

Anderson-Fabry disease is an extremely rare genetic disease, it is believed that it affects 1/120.000 live births, which is included within the group of hereditary metabolic diseases lysosomal deposit. Lysosomes are structures of cells that function as elementary digestive units.

This disease is caused by the deficiency of alpha galactosidase A (gal A), lysosomal enzyme (protein substance capable of activating a chemical reaction of the organism) which is present in many types of body cells, involved in the breakage of globotriaosylceramide (Gb3).

In Fabry disease, the enzyme Gal A is partially or totally inactive. The result is that Gb3 accumulates in the cells of the organism and alters the functions of different target organs, being kidneys, heart, nervous system and skin the most affected.

The characteristic clinical triad that defines Fabry's disease is painful distal neuropathy (general term for nerve disorders, farther from a central trunk or midline), angiokeratomas (discolored warts on the skin, which are clustered in clusters) and hypohidrosis (decrease or absence of sweating).

Is Anderson's Disease a Serious Condition?

Clinically the first symptom is usually pain, in the form of acute and debilitating crises of diffuse abdominal pain, refractory to treatment, which can last 2 or 3 weeks or even more and disappear abruptly. Painful crises can be triggered by fever, fatigue, exercise, stress, or changes in temperature. These crises are more common in childhood and once the patient reaches adulthood, these crises may disappear, or on the contrary, the pain may worsen as the years go by.

Two clinical forms of the disease have been described: the classic form, which appears in 90-95% of cases, in which there is no enzymatic activity and presents progressive evolution with acroparesthesia (a condition of burning, tingling, or pricking sensations or numbness in the extremities), angiokeratoma and involvement of the target organs by accumulation of gb3 and a rare form that appears after 45 years in which there is a residual enzymatic activity, so there is no accumulation of gb3 and in which the organ mainly affected is the heart, without renal involvement.

However, the clinical evidence is that there are no two separate clinical forms but a continuous clinical spectrum, with the following clinical manifestations being possible with a variable degree of severity:

Alterations in the skin, in the form of diffuse angiokeratomas, are very characteristic, although not of obligatory appearance. They are presented by young patients, about 10-20 years old. The lesions appear with preference in the flanks, infra umbilical region and genitals.

It can be accompanied by a typical facies, characterized by a coarse face, with prominent eyebrows.

Ocular disorders: cornea vertiginata (eccentric corneal nebula) and alterations of the vessels of the retina.

Visceral alterations: around twenty years of age, due to the accumulation of Gb3, alterations occur in different organs, being the first manifestations of them:

The alteration of renal or cardiac functions; as renal function deteriorates, renal failure occurs; so many patients require dialysis, and even kidney transplantation. Examples of cardiac disorders include arrhythmias, cardiomegaly (enlargement of the heart), mitral insufficiency, acute myocardial infarction, hypertrophic cardiomyopathy (thickening of the heart walls), etc.

Alterations of the central nervous system (system formed by the encephalon and spinal cord): vertigo, tinnitus (ringing in one or both ears), headache, decreased hearing, acute stroke, cognitive and memory alterations, learning difficulties, depression, suicide attempts, and even dementia (irreversible decrease of the mental faculty).

Other symptoms associated with Fabry's disease are: chronic bronchitis and shortness of breath, leg cramps, occasional diarrhea, osteoporosis (generalized skeletal demineralization), delayed growth and puberty.

Conclusion

Although Fabry disease has been described mostly in men, it is known that a significant percentage of women suffer the same symptoms.

The diagnosis is very difficult, since most of its symptoms are nonspecific, and can be confused with many diseases.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: July 6, 2018

This article does not provide medical advice. See disclaimer

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