What Does Fabry Disease Do To A Person?

What Does Fabry Disease Do To A Person?

As a progressive multisystem disease, Fabry disease can have a devastating effect on people’s lives and it has a wide spectrum of symptoms, explained here in detail. Fabry disease can present itself differently in each affected individual and can be a significant burden regardless of how it is presented.

Individuals with this condition are normally classified into 2 categories of which the first is the classic subtype in which symptoms are normally observed in childhood or during teenage years, and second is the late-onset disease in which the individual may be healthy during childhood but may ultimately have kidney or heart disease in adulthood, any time between 20 and 60 years. Unfortunately, both subtypes can cause organ failure and serious complications in adulthood, and often reduce life expectancy.

Frequent Symptoms And Presentation Patterns:

  • Acroparesthesia. Abnormal sensation of tingling/stinging in the extremities.
  • Acute pain (“Fabry crisis”). Intense episodic pain, often in hands and feet, accompanied by fever, which can last from hours to days.
  • Hypohidrosis. Very poor sweat, which affects the regulation of body temperature.
  • Cornea verticillata. Rays or swirls in the cornea.
  • Angiokeratomas. Benign red and blue skin lesions.
  • Gastrointestinal problems, such as abdominal pain and swelling, diarrhea and early satiety.
  • Kidney disease, which usually requires dialysis or a transplant after a prolonged illness.
  • Heart disease, such as left ventricular hypertrophy, valvular heart disease and rhythm disorders.
  • Cerebrovascular symptoms, including dizziness, vertigo, transient ischemic attacks and stroke.

Renal Implications

Renal complications as a result of Fabry disease tends to get worse as the patient grows old. Studies done looking for the involvement of the renal system in Fabry disease shows that GL-3 depositions affect several cell types, including mesangial cells, glomerular endothelial cells, distal tubules, interstitial cells, and podocytes.

Renal failure, manifested by the presence of microalbuminuria and proteinuria (deposit of albumin and protein in the urine), often begins in the second or third decades of life, and leads to progression to Fabry nephropathy and, ultimately, to end-stage renal disease, an important cause of morbidity and mortality.

The prevalence of Fabry disease is high among patients with end-stage renal disease with an incidence of this disease being 1 in 5000 for individuals from European decent and 1 in 6500 in Americans who are undergoing dialysis.

Cardiovascular Implications

Cardiac alterations in Fabry disease include left ventricular hypertrophy along with abnormalities in conduction. Among these two LVH is found to be the strongest predictor of cardiac events. The Fabry Registry shows findings in that cardiovascular disease is the leading cause of death in patients, with 53.6% of male deaths and 50.0% of female deaths attributable to this cause.

Cardiac symptoms are observed generally 10-15 years earlier in men than in women but it is now known to affect both genders with approximately 85% of patients found to have cardiomyopathy. Cardiac involvement often presents itself in an early stage of life, but cannot be detected clinically until the third or fourth decade.

As the disease progresses, heart symptoms and cardiomyopathy develop, manifested by myocardial fibrosis, which in end-stage patients can lead to congestive heart failure and death.

In patients with Fabry disease, rhythm and conduction abnormalities are also common, which are a source of morbidity and mortality.

A proposed cardiac variant of Fabry disease has been identified, with a high prevalence in the Taiwanese population. This phenotype of the disease usually occurs between the fifth and eighth decade of life with cardiac involvement, including left ventricular hypertrophy, cardiomyopathy and rhythm abnormalities, in the absence of classic symptoms of Fabry disease.

Gastrointestinal Implications

The Fabry data show that 50% of patients present gastrointestinal symptoms. The most common symptoms are abdominal pain, frequently after eating, and diarrhea. Constipation, nausea and vomiting are other frequent symptoms. The median age of onset of many gastrointestinal symptoms is before 15 years of age. Data from a study on Fabry revealed that 60% of children younger than 10 years had gastrointestinal symptoms (more frequently altered bowel habits and abdominal pain). In another report, only 18% of children had gastrointestinal symptoms.

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