Understanding Fabry disease and its signs and symptoms
Fabry disease is a lysosomal storage disorder caused by deficiency of the enzyme α-galactosidase A, leading to accumulation of glycosphingolipids, particularly globotriaosylceramide, in various cell types throughout the body. This can result in multisystem disease, mainly affecting the kidneys, heart, and nervous system.1 Fabry disease can impact many different organ systems in many different ways.1 Patients may experience a unique combination of symptoms – even in members of the same family, you may see patients with a different presentation of the disease.2,3 This variability can make Fabry difficult to diagnose.3,4
Fabry disease may be described in 2 ways:1
Severe, classical phenotype, most often seen in men without residual enzyme activity1
Nonclassical FD, also referred to as late-onset or atypical FD, characterized by a more variable disease course, in which patients are generally less severely affected and disease manifestations may be limited to a single organ1
Early symptoms of Fabry disease typically begin in childhood – often appearing earlier in males than females.4 With age, progressive damage to vital organ systems develops in both genders, leading to organ failure.4
It is important to remain aware that clinical vigilance and regular monitoring are essential, as an absence of symptoms at baseline or at follow-up assessment does not preclude subsequent development of organ complications.2
The need for prompt and accurate diagnosis of this devastating, progressive disease is paramount so that patients can be identified and treated before irreversible organ damage occurs.3 End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated patients.4
can progress to kidney failure.3
may eventually lead to heart failure.3
include early stroke and transient ischemic attacks.3
and pain both negatively influence quality of life.5
Long-term management of adult patients with Fabry disease should involve timely treatment and regular assessment of disease progression in all patients.2
Fabry disease can be monitored through a variety of laboratory tests and patient-reported outcomes.
Starting treatment as early as possible may help prevent disease progression—and irreversible organ damage.3
THE PAST DECADE HAS WITNESSED AN INCREASED UNDERSTANDING OF THE PATHOGENESIS, NATURAL HISTORY, AND PREVALENCE OF FABRY DISEASE, AND THE EFFECTIVENESS AND LIMITATIONS OF SPECIFIC TREATMENTS.2 THE ADVANCES HAVE CHANGED OUR APPROACH TO DISEASE MONITORING AND THERAPEUTIC INTERVENTION, LEADING TO UPDATED FABRY DISEASE TREATMENT GUIDELINES.2
AS OUR UNDERSTANDING OF FABRY DISEASE GROWS, IS IT TIME TO RETHINK WHAT’S POSSIBLE FOR PATIENTS?
Za bolnike: Če opazite kateri koli neželeni učinek, se posvetujte z zdravnikom, farmacevtom ali drugim zdravstvenim delavcem. O domnevnem neželenem učinku lahko poročate tudi neposredno Nacionalnemu centru za farmakovigilanco prek spletnega obrazca ali na drug način naveden na spletni strani JAZMP (www.jazmp.si/humana-zdravila/farmakovigilanca/porocanje-o-nezelenih-ucinkih-zdravil/).
Za ponudnike zdravstvenega varstva: Prosimo, da o domnevnih neželenih učinkih, ki jih opazite, poročate Nacionalnemu centru za farmakovigilanco prek spletnega obrazca ali na drug način naveden na spletni strani JAZMP (www.jazmp.si/humana-zdravila/farmakovigilanca/porocanje-o-nezelenih-ucinkih-zdravil/).