Dialysis for Fabry disease

Last updated May 16, 2024, by Marisa Wexler, MS
Fact-checked by Ana de Barros, PhD

Dialysis is a life-sustaining treatment that can be used in people with Fabry disease when the kidneys can no longer effectively perform their function. Using advanced technology, the procedure is able to cleanse the blood and remove waste products, mimicking the kidneys’ filtration process.

Fabry disease is caused by mutations in the gene that provides instructions to make alpha-galactosidase A (alpha-Gal A), an enzyme responsible for breaking down specific fatty substances into smaller components that cells can use.

The insufficient production of alpha-Gal A as a result of those mutations leads to the harmful accumulation of fat molecules, namely globotriaosylceramide (Gb3), within cells, which ultimately results in organ damage.

While Fabry disease can affect multiple organs, the kidneys are especially susceptible to damage caused by Gb3 buildup, and Fabry patients often develop chronic kidney disease as a result of that damage.

How does Fabry disease affect the kidneys?

The kidneys — bean-shaped organs beneath the rib cage on both sides of the spine — play a vital role in sustaining overall health. Their primary function is to filter waste and excess water from the bloodstream, which are then removed from the body through urine.

These organs are particularly affected in Fabry disease, leading to early symptoms such as excess urination and the presence of blood or proteins in urine.

The signs and symptoms of kidney disease arise in childhood in most Fabry patients and are also more common in males than females. Without Fabry disease treatment, kidney damage usually progresses to a point where patients need dialysis or a kidney transplant in their fourth or fifth decade of life.

In Fabry disease, Gb3 buildup is observed in all types of kidney cells. Podocytes, which are essential for maintaining the kidney’s filtration barrier by preventing the passage of large molecules, are particularly affected. But other cells and kidney structures are also damaged over time.

As the disease advances, the increasing Gb3 deposits interfere with the proper functioning of these cells and contribute to cell death. The damaged cells also can release signaling molecules that trigger inflammation and tissue scarring, that is, fibrosis, further exacerbating kidney damage and impaired kidney function.

In some patients, the damage to the kidneys will progress to cause end-stage renal disease (ESRD), or kidney failure. At this stage, the kidneys are no longer able to filter waste products and excess fluid by themselves and patients need dialysis or a kidney transplantation to keep the body healthy.

Kidney dialysis for Fabry disease

Kidney dialysis is a medical procedure to replace the kidney’s function when these organs are no longer working as they should. It helps to remove waste products, toxins, and excess fluid from the body to maintain the balance between electrolytes and fluids.

While Fabry disease treatment involves disease-modifying therapies that address the root cause of the disorder, kidney dialysis is sometimes needed as a supportive management strategy to deal with the disease’s kidney complications.

The procedure can improve quality of life and increase life expectancy in Fabry patients with kidney failure. But it’s not a cure for chronic kidney disease and patients have to remain on treatment for the duration of their lives.

In some cases, dialysis can also be employed as a short-term treatment while patients wait for a kidney transplant, which involves transplanting a healthy kidney from a live or deceased donor.

Types of dialysis

There are two main types of dialysis: hemodialysis, which uses a dialysis machine to remove and filter the blood, and peritoneal dialysis, which uses the membrane lining the abdominal cavity as a natural filter.

Both may be used in Fabry disease patients and each carries pros and cons. The choice depends on individual preferences and patients are generally given the option to change if they feel a certain type isn’t right for them.

Hemodialysis

In hemodialysis, a dialysis machine is hooked to the person’s blood vessels and pumps blood through a semipermeable membrane called a dialyzer. This artificial filter is designed to function as the kidneys do, keeping blood cells and proteins in the blood, but allowing smaller waste products, excess minerals, and extra fluid to pass through the membrane to be eliminated. The circuit then delivers the filtered blood back to the body.

For this kind of dialysis, the patient first undergoes a minor surgical procedure to create an access point that makes it easier to routinely access blood vessels in the arm. Then, during dialysis, two thin needles are inserted into the access. One needle will slowly remove the blood and transfer it to the machine, and as the filtered blood is pumped out of the dialyzer, it returns to the body through the second needle.

Hemodialysis is usually done at a hospital or specialized center, but patients may also receive treatment at home. If this type of dialysis is performed in a center, it’s usually done three times a week and for about four hours at a time. Patients who choose the home setting may perform it more frequently (4-7 times a week) and for shorter periods each time.

When dialysis is done in the comfort of one’s home, there is more flexibility in choosing a convenient time of day to perform the treatment. However, a dialysis partner must be present during the procedure and there needs to be space at home dedicated to the machine and its supplies. Moreover, no medical professionals will be present to monitor treatment or in case of an emergency situation, although patients can always contact or go to their dialysis center in case of need.

Peritoneal dialysis

In peritoneal dialysis, a natural membrane that lines the abdominal cavity called peritoneum is used as a filter to remove waste products, excess fluids, and electrolytes from the blood.

For this procedure, a thin, soft tube called a catheter is surgically implanted into the peritoneum, which allows a special cleansing fluid to enter the abdomen and filter blood inside the body. After a few hours, the fluid containing waste products can then be drained from the abdomen through the catheter.

This process can be done either manually during the day — a type of peritoneal dialysis known as continuous ambulatory peritoneal dialysis, or CAPD — or at night with a machine that pumps the fluid in and out, called automated peritoneal dialysis, or APD.

In CAPD, patients hook a plastic bag containing the sterile cleansing solution to the catheter and the fluid goes in by way of gravity. When the bag is empty, it can be disconnected and a cap placed on the catheter so the patient can move around and do their normal activities. Still, the patient will have to drain the fluid about 3-5 times throughout the day.

While this peritoneal dialysis needs to be done every day, studies have shown this type of continuous treatment can improve well-being and increase life expectancy. The method also has the advantage of needing no needles and of having fewer fluid and dietary restrictions.

Nevertheless, the constant presence of a catheter, and the increased risk of infection in the area where the catheter is placed, may be a limitation of this procedure. Also, because the dialysis fluid contains sugar, there is the potential for weight gain and blood glucose may be more difficult to control in people with diabetes.

Aftercare and potential complications

As with any medical procedure, there are potential complications to dialysis, and he specific risks depend on the type of dialysis and the patient’s individual situation.

For example, common side effects of hemodialysis include cramps, headache, low blood pressure, and dizziness. In some cases, there also can be blood loss or blockages in blood vessels.

With peritoneal dialysis, common side effects include bloating and weight gain. Patients also can develop a hernia, where part of the intestine pokes through the abdominal wall — this typically looks like an unusual lump or swelling and can be managed surgically.

Both forms of dialysis can increase the risk of infections and it’s common for patients to report persistent fatigue or itchiness, which may be complications of dialysis or a symptom of kidney failure.

When patients start dialysis, they’ll be instructed on proper techniques and aftercare that’s appropriate to reduce the risk of side effects. Patients are also encouraged to ask their providers about resources and support that may be available.

Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.