Fabry disease: raising awareness of the disease among physicians

Abstract

Fabry disease is an X-linked inherited lysosomal disorder due to dysfunctions of the lysosomal enzyme alpha-galactosidase A, causing insufficient breakdown of glycolipids, which are stored in the eyes, kidneys, autonomic nervous system, skin, vessels and cardiovascular system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms. Clinical onset usually occurs in childhood, but many severe patients are diagnosed in adulthood. Females may be severely affected as males and both may die prematurely due to stroke, heart disease and renal failure. Enzyme replacement therapy can stabilize or reduce the progression of the disease. There is a need to improve the knowledge of Fabry disease, as an early therapy may prevent complications of the disease. This brief overview aims to raise awareness of the signs and symptoms of Fabry disease and to summarize the effects of treatments.

Early Detection of Fabry Disease – The Important Role of Ophthalmology

“…10 Effective management regimes for FD are available, with the long-term goal of prevention of irreversible damage to vital organs.…”

“…10 Detecting the ocular features of FD, which are asymptomatic, offers a vital opportunity to diagnose FD at any early stage and can be detected by a routine eye examination. 11 Much of the pain, suffering and adverse impact of FD can be avoided if an alert eye care professional sees the patient at an early age, identifies the condition and makes the appropriate referral.…”

“…25 Not all patients will demonstrate this pattern and this can be particularly varied in heterozygous patients, who tend to have less severe symptoms than classic FD patients. 10 In such patients cornea verticillata may be a prominent indicator of FD, occurring in approximately 77 % of people. Other symptoms to be aware of include angiokeratoma and pain in the extremities.…”

Neurological Manifestations of Fabry Disease in Children and Adolescents

“…Другими словами, сим-птомы болезни Фабри начинают проявляться в детст-ве, а диагноз устанавливается только у взрослых [11]. В среднем от появления симптомов до установления диагноза проходит около 10 лет [76].…”

The neurological manifestations of Fabry disease. A review

“…Сексуальная сфера у мужчин и автономная регуляция сердечно-сосудистой системы при болезни Фабри не страдают [54,55].…”