Fabry Disease

All The Things You Should Know About Fabry Disease

In the United States, according to an estimation, there is approximately one individual out of 1000 to 9000 effects by Fabry disease. Now, as you hear the word Fabry disease, you must think, what is Fabry disease?

Fabry disease is the absence of production of healthy versions of an enzyme, alpha-galactosidase A (alpha-GAL). Certain causes related to genetics become the reasons for diagnosing the fabry disease in an individual.

The good news is that Fabry’s disease is treatable, which you will learn in this blog. So, without any further ado, let’s start with what Fabry disease is and other things related to it:

Fabry Disease: Overview

Alpha-galactosidase A (alpha-GAL) is an enzyme that is produced in insufficient amounts in Fabry disease patients. Sphingolipids, a molecule that resembles fat, are prevented from accumulating in blood vessels and tissue by these enzymes.

Sphingolipids accumulate in dangerous amounts in blood vessels and tissues without active alpha-GAL enzymes. The kidneys, heart, spine, brain, central nervous system, and skin are all impacted by Fabry disease. It is an inherited condition that parents pass on to their offspring. The condition is also known as Anderson-Fabry disease.Fabry disease symptoms

Types of Fabry Diseases

The different types of Fabry disease are based on the age at which symptoms initially appear. The types of Fabry disease include:

  • Classic type:

Classic Fabry disease symptoms first develop in adolescence or childhood. A terrible burning sensation in the hands and feet, one of the hallmarks of the condition, may appear as early as age two. Over time, symptoms progressively worsen.

  • Late-onset/atypical type:

Symptoms of late-onset Fabry disease don’t appear until a person is at least 30 years old. Heart disease or kidney failure may be the earliest signs of a problem.

Frequency of Fabry Disease

One man out of every 40,000 suffers from the typical Fabry disease. More often, Fabry’s disease manifests as late-onset or atypical. One in every 1,500 to 4,000 males is affected by it.

Experts are still not sure about the statistics of Fabry disease in females. Women commonly go without a diagnosis for the illness since some exhibit no symptoms or have moderate, easily overlooked symptoms.

Fabry Disease – Causes

A parent passes on to their offspring a mutation in the X chromosomes galactosidase alpha (GLA) gene. The alpha-GAL enzyme that supports the breakdown of fatty compounds (sphingolipids) is produced by the GLA gene.

The alpha-GAL enzyme is not produced enough in those who inherit a damaged GLA gene. As a result, blood vessels accumulate fatty materials.

Who Might Be Able To Face Fabry Disease?

There is a mutated gene on the X chromosome that children inherit from parents with Fabry disease. Males inherit one X chromosome from their mothers. Two X chromosomes, one from each parent, are present in females.

There are several ways that a parent can transmit the defective gene that results in Fabry disease to a child:

  • All of a father’s daughters inherit the defective gene on their X chromosome. These daughters will all carry the Fabry disease, which causes gene mutation. Males get the Y chromosome from their fathers, not the X chromosome. Hence sons are not at risk.
  • A mother’s chance of passing on her damaged X chromosome to her daughters or sons is 50%. Some members of the same family may carry the gene mutation, while others do not.

Potential Risks of Fabry Disease

The accumulation of fatty material over time may damage blood vessels and result in serious issues like:

  • Heart problems include an enlarged heart, heart attacks, arrhythmia, and heart failure.
  • Nerve damage
  • Kidney failure
  • Strokes include TIA (transient ischemic attacks or mini-strokes).

Symptoms of Fabry Disease

Fabry disease symptoms vary and depend on the type of Fabry disease. Some minor signs and symptoms may not show until later in life. Symptoms in men are typically more severe than in women. Symptoms of Fabry disease include:

  • Hands or foot pain, tingling, numbness, or burning.
  • Extreme discomfort while exercising.
  • Intolerant to cold or heat.
  • Abnormal corneal opacity does not affect eyesight.
  • Dizziness.
  • Flu-like symptoms, such as exhaustion, body pains, and fever.
  • Stomach pain and digestive issues like diarrhea and constipation.
  • Loss of hearing or tinnitus (ear ringing).
  • High urine protein levels (proteinuria).
  • Raised red or purple skin lesions (angiokeratoma) in the vaginal region, on the back, or on the chest.
  • Reduced sweating (hypohidrosis) or no sweating at all (anhidrosis).
  • Edoema or swelling in the ankles, feet, or legs.

How Can You Diagnose Fabry Disease?

There are various diagnostic laboratories and other medical test centers which perform different tests for the diagnosis of Fabry disease. Your healthcare provider may also recommend you to any center for diagnosis of Fabry diseases. These tests include:

  • Enzyme Essay

This test is performed to diagnose alpha-GAL enzymes in the blood of an individual. If there is a 1% or lower concentration of this enzyme, this shows the presence of Fabry disease in the individual. This test should not be used on females because it is the most accurate result on males.

  • Genetic

As alpha-GAL enzyme levels in females with Fabry disease can be normal, doctors use genetic testing (DNA sequencing) to recognize the GLA gene mutation.

  • Newborn screenings

Fabry disease and other lysosomal storage diseases are tested for in certain states in infants. The usual newborn screening process includes an enzyme test.

fabrys disease

fabrys disease

Treatment for Fabry Disease

Fabry disease has no known treatment. Painkillers and gastrointestinal medications can help with symptoms.

 To prevent heart difficulties, renal illness, and other potentially fatal effects, two treatments could slow down the accumulation of fatty substances:

Enzyme Replacement Therapy

You get a biologic infusion therapy of the synthetic agalsidase beta enzyme (Fabrazyme®) every two weeks. This substitute enzyme fills up for the absent alpha-GAL enzyme, preventing the buildup of fatty compounds.

You could receive an antihistamine and other drugs before therapy to avoid an allergic reaction.

Oral Chaperone Therapy

Small molecules called chaperones can fix damaged alpha-GAL enzymes. The repaired enzymes can subsequently break down the fatty material.

To stabilize the dysfunctional alpha-GAL enzyme with this therapy, take a pill such as (migalastat [Galafold®] every other day.

This medicine cannot be used to treat all Fabry disease patients. If you qualify for this treatment depends on the specific genetic mutation in the GLA gene that you have.

There are several new therapies on which researchers are working and actively developing as a successful treatment for Fabry disease. These treatment techniques use stem cells and genetic engineering, i.e., biological infusion. 

Through biological infusion, there are special biologics that can be infused into the body of a patient to recover from Fabry’s disease. Genetically modified proteins called biologics, which are derived from human genes, are intended to inhibit specific immune system functions that are crucial in promoting inflammation, an essential component of many chronic diseases. 

At our facility, we use biological infusion therapy to get patients to recover from chronic diseases like Fabry’s. 

FAQs about Fabry Disease

What age is Fabry’s disease diagnosed?

Men typically begin to experience major medical issues between the ages of 30 and 45. Complications in women may not show themselves until their 50s or much later.

 Although late-onset Fabry (type 2) symptoms can start in adulthood and are less severe than those of classical, or type 1, Fabry disease symptoms, typically in infancy or childhood.

What organ is affected by Fabry’s disease?

A substantial number of female heterozygotes develop symptoms due to yet undetermined mechanisms and develop involvement of important organs such as the kidneys, heart, and/or brain roughly ten years later than males. A significant side effect of this condition is renal failure.

Infusion Treatment for Fabry Disease at Fuse Infusion

One of the treatment options for Fabrys disease is enzyme replacement therapy (ERT), and patients can receive it in the form of a biologic infusion every two weeks. The good news is Fuse Infusion is offering infusion treatment near you.

Fuse Infusion is a biologic infusion treatment center that offers biologic infusion treatment therapy and other therapies so that patients will recover from chronic diseases. We have trained and professional staff available at our center.

You will receive treatment in a safe environment. Contact us today at www.fuseinfusion.com or at 914-460-4891 to know more!