Fabry's Disease: Symptoms, Diagnosis, and Treatment Options

Suspected Fabry disease?

I experience intermittent electric shock-like tingling sensations throughout my body (in my back and limbs, including my ankles).
I have noticed that these sensations occur when I feel like I need to sweat, when I am anxious, or when I need to have a bowel movement, and they can last for a long time.
Currently, I do not sweat much, and this has been ongoing for six months.
After seeing a dermatologist for several months, I was diagnosed with physical urticaria and tried various antihistamines (6-10 different types) with no effect.
I then consulted an immunologist, and my blood tests showed that my blood count and allergy tests were completely normal, with no rashes on my body.
I was advised to see a neurologist.
I would like to ask for the doctor's opinion and what further examinations should be conducted.
Thank you.
After visiting the neurology outpatient clinic, a diagnosis can be made.
Subsequently, at the Taipei Veterans General Hospital's neurology department, it was found that my sweating ability is only one-third of that of a normal person.
I experience abnormal pain in my limbs, and I have severe burning sensations throughout my body during times of higher temperatures, temperature changes, anxiety, fatigue, or stress, accompanied by tingling and pain in my limbs.

1.
Dark deposits appeared on the skin of my lower abdomen and upper thighs, which started small but have been increasing in size over time.

2.
I sometimes experience abdominal pain and bloating.

3.
My 24-hour urine test showed elevated protein levels.

4.
I have occasional headaches and facial numbness.

5.
My blood A-gal enzyme activity is at 4 (it should generally be below 1, as noted by my doctor).

6.
There are no external genetic issues, but my doctor mentioned that internal genetic testing cannot be done domestically and needs to be sent abroad; I have been waiting for over a month for this to be arranged.

7.
My mother and uncle (especially my uncle, who passed away over ten years ago) had very pronounced symptoms, with severe organ failure, particularly in the kidneys, and he experienced widespread pain that required large amounts of morphine, which was not very effective.
I greatly appreciate the effort the doctors have put into reviewing my medical history and hope to receive a second consultation (which is quite popular abroad).

1.
Could my current symptoms potentially indicate another condition?
2.
I find that Metoclopramide is effective for abdominal pain, but Carbamazepine does not help with limb pain.
Is there any medication that can alleviate the burning sensations and tingling throughout my body? The frequency and duration of these episodes are too long, making it difficult for me to work and sleep normally.

3.
Am I currently eligible for enzyme medication coverage under the National Health Insurance? Thank you.

Xiao Xiong, 30~39 year old female. Ask Date: 2005/08/07

Dr. Jian Yingxiu reply Rare Disease

You may consider consulting the Neurology Department at National Taiwan University or Chang Gung Memorial Hospital.
Thank you.

Reply Date: 2005/08/07

More Info

Fabry's disease is a rare genetic disorder that results from the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in various tissues, which can cause a wide range of symptoms and complications. Understanding the symptoms, diagnosis, and treatment options for Fabry's disease is crucial for managing the condition effectively.

Symptoms of Fabry's Disease
The symptoms of Fabry's disease can vary widely among individuals and may include:
1. Pain Episodes: Patients often experience episodes of severe pain, known as acroparesthesia, which can feel like a burning or tingling sensation in the hands and feet. This pain can be triggered by temperature changes, stress, or physical exertion.

2. Skin Manifestations: A characteristic symptom is the presence of angiokeratomas, which are small, dark red spots that typically appear on the lower trunk and extremities. These spots are often mistaken for other skin conditions.

3. Gastrointestinal Issues: Many patients report gastrointestinal symptoms such as abdominal pain, diarrhea, and nausea. These symptoms can be exacerbated by stress or dietary factors.

4. Kidney Problems: Over time, the accumulation of Gb3 can lead to kidney damage, resulting in proteinuria (excess protein in urine) and potentially progressing to kidney failure.

5. Cardiovascular Complications: Fabry's disease can also affect the heart, leading to hypertrophic cardiomyopathy, arrhythmias, and other cardiovascular issues.

6. Neurological Symptoms: Patients may experience headaches, dizziness, and other neurological symptoms, including transient ischemic attacks (TIAs) or strokes.

Diagnosis of Fabry's Disease
Diagnosis typically involves a combination of clinical evaluation, family history, and laboratory tests. Key diagnostic steps include:
1. Enzyme Activity Testing: Measuring the activity of alpha-galactosidase A in blood or skin cells is the most common method for diagnosing Fabry's disease. A significantly reduced enzyme activity confirms the diagnosis.

2. Genetic Testing: Genetic testing can identify mutations in the GLA gene responsible for Fabry's disease. This is particularly useful for confirming the diagnosis in individuals with a family history of the disease.

3. Biopsy: In some cases, a skin biopsy may be performed to assess Gb3 accumulation in tissues.

4. Imaging Studies: Cardiac MRI and renal ultrasound may be used to evaluate the extent of organ involvement.

Treatment Options
While there is currently no cure for Fabry's disease, several treatment options can help manage symptoms and slow disease progression:
1. Enzyme Replacement Therapy (ERT): This is the primary treatment for Fabry's disease. It involves regular infusions of recombinant alpha-galactosidase A to help reduce Gb3 accumulation and alleviate symptoms.

2. Symptomatic Treatment: Pain management is crucial for improving quality of life. Medications such as gabapentin, pregabalin, or carbamazepine may be prescribed to help manage neuropathic pain. For gastrointestinal symptoms, medications like metoclopramide can be effective.

3. Kidney Management: Regular monitoring of kidney function is essential. In advanced cases, dialysis or kidney transplantation may be necessary.

4. Cardiovascular Care: Patients should be monitored for heart complications, and treatment may include medications for hypertension or arrhythmias.

Conclusion
Given your symptoms of burning pain, reduced sweating, and abdominal discomfort, it is essential to continue working closely with your healthcare providers, including neurologists and geneticists, to explore the possibility of Fabry's disease or other related conditions. The presence of family history, particularly with severe symptoms in relatives, further supports the need for thorough investigation.

If you suspect that your symptoms may be related to Fabry's disease, it is crucial to pursue enzyme activity testing and genetic counseling. Additionally, discussing your pain management options with your healthcare provider can help improve your quality of life and allow you to manage your symptoms more effectively. Regular follow-ups and monitoring are vital to address any complications early and adjust treatment as necessary.

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