16235 Fabry Disease

Overview

Fabry disease is a rare inherited condition where the body lacks a working enzyme (a protein that speeds up chemical reactions) needed to break down certain fats. These fats build up in cells and damage organs like the kidneys, heart, nervous system, and eyes.

No. Fabry disease is rare. It is estimated to affect about 1 in 40,000 to 1 in 117,000 people, but many cases are underdiagnosed.

Fabry disease affects all ethnic groups and both sexes. Males tend to have more severe symptoms because they inherit only one X chromosome. Females can be carriers and may have mild to severe symptoms, but often later in life.

Symptoms

Common symptoms

• Burning pain in the hands and feet, sometimes triggered by heat or exercise
• Tiny dark spots on the skin (angiokeratomas), often on the thighs, buttocks, and belly
• Reduced ability to sweat, leading to overheating and fever
• Stomach pain, bloating, diarrhea, or constipation
• Cloudy areas in the cornea (seen by an eye exam)
• Ringing in the ears, hearing loss, or fatigue
• Signs of kidney or heart problems, such as swelling in the legs or chest discomfort

Symptoms in children

• Painful burning feeling in the hands and feet (acroparesthesia)
• Stomach trouble, including pain and loose bowel movements
• Trouble tolerating hot weather or poor sweating
• Fevers that come and go with no clear cause
• Small purple spots on the skin

Symptoms in older adults

• Progressive kidney problems, including needing dialysis or a kidney transplant
• Heart problems, such as an enlarged heart, heart valve issues, or heart failure
• Strokes or transient ischemic attacks (mini-strokes)
• Severe fatigue and reduced physical endurance
• Hearing loss and dizziness

Causes

Main causes

• A change (mutation) in the GLA gene, which gives instructions for making an enzyme called alpha-galactosidase A
• A missing or low level of this enzyme causes fats to build up in the body's cells
• Fabry disease is inherited in an X-linked pattern, so it is passed down through families

Risk factors

• Having a parent or sibling with Fabry disease
• Being male (males are usually more severely affected)
• Being female with a family history (females can have mild or severe symptoms, and can pass it to children)

When to see a doctor

See a doctor urgently if:

• If you or your child have any of the emergency symptoms listed above, call your local emergency number right away
• If you have painful burning in your hands or feet that lasts more than a day or keeps coming back, contact your GP or care team

Book a routine appointment if:

• If you have repeated burning pain, skin spots, tummy problems, or a family history of Fabry disease, make an appointment with your GP
• If you have been diagnosed with Fabry disease, have regular follow-ups with your specialist team

Diagnosis

Doctors use a blood test to measure the level of the enzyme alpha-galactosidase A. If the level is low, a genetic test is done to confirm the diagnosis. In females, genetic testing is more reliable because enzyme levels can be normal.

Tests that may be done

• Blood sample to check enzyme activity
• Genetic (DNA) test to look for a GLA gene mutation
• Urine test to look for fat build-up
• Eye exam to check for clouding
• Kidney tests (blood and urine) and heart tests (ECG and echocardiogram)

What to expect at your appointment

If your doctor suspects Fabry disease, they will likely refer you to a specialist in inherited metabolic diseases. You will be asked about family history, and you may be offered genetic counselling. Testing is done with a simple blood draw and some urine samples.

Treatment

There is no cure for Fabry disease, but treatments can replace the missing enzyme or help it work better. These treatments help slow down or prevent organ damage. Your healthcare team will make a plan based on your symptoms and organ function.

Self-care at home

• Stay hydrated and avoid activities that make you overheat, since sweating may be reduced
• Keep a diary of painful episodes to find what triggers them
• Take gentle rest during pain flares and use warm (not hot) packs for hands and feet
• Use moisturisers and stay warm in cold weather to protect the skin

Medical treatments

Treatment for Fabry disease usually includes enzyme replacement therapy (given as an intravenous infusion) or a medication that helps the body's own enzyme work better. Some people also need medicines to manage pain, prevent kidney damage, or control heart rhythm. Doctors may prescribe low-dose blood thinners or blood pressure medicines if kidney or heart problems are present. If kidney failure happens, dialysis or a kidney transplant may be needed.

When is surgery considered?

Surgery is needed mainly for complications. If Fabry disease has damaged the kidneys and they fail, a kidney transplant may be an option. Some people also need surgery to treat heart rhythm problems, such as a pacemaker implantation.

Living with this condition

Living with Fabry disease means managing fatigue, staying comfortable in heat, and keeping up with medical appointments. Many people find that a steady daily routine helps. Learn to pace yourself, and let family and friends know how they can help.

Lifestyle tips

• Avoid intense heat, saunas, and hot baths
• Wear loose, light clothing and carry water with you
• Quit smoking and limit alcohol to protect your heart
• Make sure to get enough sleep to manage fatigue

Diet and exercise

Eat a balanced diet with plenty of fruits and vegetables. If you have kidney problems, your doctor may advise you to limit certain foods like salt, potassium, and phosphorus. Light-to-moderate exercise, like walking or swimming, is good, but stop if you have chest pain or feel exhausted.

Mental health and emotional wellbeing

Living with a rare disease can cause anxiety, depression, or stress. It is important to talk about your feelings. Tell your GP if you have low mood or trouble coping. You are not alone, and support is available.

Prevention

Fabry disease cannot be prevented because it is genetic. However, if you know you carry the gene change, you can make informed decisions about family planning. Genetic counselling can help you understand your options.

Vaccines

Stay up to date with recommended vaccines, such as flu and pneumonia vaccines, which are often advised based on your age and health conditions. If you have kidney or heart problems, infections can be harder to fight, so prevention matters.

Screening programmes

Newborn screening for Fabry disease is not offered everywhere. In some regions, it is part of targeted screening when there is a family history. If a family member is diagnosed, close relatives are often offered testing.

Complications

If left untreated

• End-stage kidney disease requiring dialysis or a transplant
• Significant heart disease, including heart failure
• Increased risk of strokes
• Disabling chronic pain and reduced quality of life

Long-term outlook

With early diagnosis and regular treatment, many people with Fabry disease live long and productive lives. Treatment can slow or prevent organ damage. It is important to stay engaged with your healthcare team and follow your treatment plan. Research continues to improve outcomes.

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