What is Fabry’s disease?

Fabry’s Disease is an inherited disorder, meaning it runs in families.

In this disease state, the body is unable to break down fatty substances called lipids due to missing or faulty enzymes. The enzyme associated with Fabry’s disease is called Alpha-Galactosidase A, which is located inside an intracellular organelle known as the lysosome. As a result of the enzyme deficiency, lipids are not removed from the blood and build up in the body, leading to multiple organ dysfunction.

This is why Fabry’s disease is called a lysosomal storage disease.

What causes Fabry’s disease?

Fabry’s disease is a genetic disorder that can be passed down from parents.

The affected gene is on the X-chromosome, which is one of the two chromosomes that determine an individual's sex. 

Although Fabry's disease is more common in men (since they have one X chromosome) than women (since they have two X chromosomes), women can still have the entire disease spectrum from being completely asymptomatic to having severe manifestations.

What is the Incidence & Prevalence of Fabry's disease?

Fabry disease is Pan-ethnic, but due to its rarity, determining the disease accurate frequency is difficult.

Reported incidence is 1/47,600 to 1/117,000 in the general population, but the true prevalence is much higher, especially in patients with chronic kidney disease & those on kidney dialysis.

So, even though Fabry's disease is a rare disease, it is more common than we think.

What are symptoms of Fabry’s disease?

  • Episodes of pain and burning sensation in hands and feet especially with stress & fever.
  • Corneal Opacities in the eye (Corneal Verticillata).
  • Small, dark red spots on the skin, usually between the belly button and knees (Angiokeratoma).
  • Minimal sweating & inability to tolerate hot weather.
  • Ringing in the ears or even hearing loss
  • Stomach pain or bowel movements immediately after eating

Fabry’s disease can lead to more serious problems as well, including:

  • Serious kidney problems, including kidney failure that manifests early in life, which could lead to dialysis or transplant.
  • Enlarged heart, rhythm irregularities and Heart Failure, so patient may need transplant.
  • Stroke.
  • Weak bones 

Atypical (later-onset) variants— Patients with atypical, "later-onset" variants of Fabry disease usually present later in life (third to seventh decades of life) than those with the classic form of the disease, They have residual alpha-Gal A activity, and may not have Gb3 accumulation in capillaries and small blood vessels. Most do not display the classical features of Fabry disease, and their disease is typically dominated by a particular organ system, most commonly the heart. The diagnosis is often made incidentally during an evaluation of unexplained left ventricular hypertrophy, heart failure, arrhythmias, proteinuria, renal failure, or stroke of unknown cause.

How is Fabry’s disease diagnosed?

People who suffer from Fabry’s disease may have symptoms for years before being diagnosed. Sometimes, patients get a wrong diagnosis due to the complexity of the disease. It is important to ask your physician to get tested for Fabry’s disease if you have a family history. A simple blood test to measure the levels of the enzyme (alpha-Gal A), or even a DNA test, can confirm the diagnosis.

Is there a treatment for Fabry’s disease?

Fabry’s disease is a multi-systemic disease, meaning it affects several systems of the body. Thus, Fabry management requires a multidisciplinary, expert team. The most common treatment is Enzyme Replacement Therapy, which aims to replace what the body is lacking. In this case, the body is lacking functional alpha-Gal A enzyme. The treatment is given in the form of bi-weekly infusions. Also, new oral medications (Chaperone therapy) can be administered for specific mutations. However, patients also require a comprehensive therapeutic approach from an expert team. The core team involved in the management of Fabry’s disease usually includes a kidney doctor, a heart specialist, and a pain management specialist. Other doctors, including a digestive and lung disease specialist may be involved in the management as well.

Typically, physicians recommend the following:

  • Balanced diet and exercise
  • No smoking
  • Medications to relieve pain
  • Medications for stomach problems
  • Blood thinners or other drugs to prevent strokes or heart problems
  • Blood pressure medicine, which helps to protect the kidneys
  • Hearing loss may be treated with hearing aids
  • Dialysis or kidney transplant if the disease has caused serious kidney damage

Can Fabry’s disease be prevented?

Fabry’s disease is inherited, so it cannot be prevented. However, early diagnosis and an experienced, multidisciplinary medical team can provide the necessary care to slow down the progression of the disease and improve the quality of life in patients suffering from Fabry’s disease. Patients are always advised to keep a detailed list of symptoms experienced and discuss it with their physician.

Fabry's Disease: What You Should Know