Symptoms of Fabry Disease

The symptoms associated with Fabry Disease are known to vary depending on age, sex and the replica watches location of the gene mutation. Amongst males, a distinction is now accepted to exist between 'classic Fabry' and 'variant Fabry' patients, due to the increasing number of people who present with some residual enzyme activity and as a result have delayed onset of symptoms or don't present with all of the typical symptoms. The involvement of other environmental factors in the onset of symptoms and severity of symptoms is believed to be of importance but as yet has not been well established.

Females typically tend to have an hublot replica sale level of enzyme inactivity, and as a result the onset of symptoms is later than for males, with symptoms becoming progressively worse with age. It has been recognised more recently that the response in affected females ranges from being totally asymptomatic to being as severely affected as males.

Symptoms become apparent during early childhood (age 4-10) and include chronic burning pain in the hands and feet, lack of sweating and gastrointestinal complaints. These problems can make physical activity difficult and are intensified during hot and cold weather.

Moving toward adulthood, proteinuria is tag heuer replica uk and the implications this has on kidney function requires close monitoring. Cardiac involvement may also present during adolescence in the form of palpitations. Diarrhoea, nausea, vomiting, skin lesions and corneal changes are also common.

With increasing age, cardiac (hypertrophic cardiomyopathy, arrhythmias and impaired heart rate variability) and cerebrovascular abnormalities (stroke and transient ischemic attacks), together with a gradual deterioration of renal function, are very frequent.

For the purposes of assessing the severity of cartier replica uk and the impact they have on quality of life, they have been divided here into primary (major clinical manifestations) and secondary (minor clinical manifestations). Primary symptoms are the effect of severe organ malfunction or failure that will eventually cause loss of life, whilst secondary symptoms are recognised as causing day to day discomfort, but are not generally life threatening.


Figure 1: Progression of Clinical Findings in Fabry Disease with Age
(Zarate and Hopkin, 2008)

Click to expand image


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