Is Fabry disease painful?
Severe neuropathic pain is a hallmark of Fabry disease, a genetic disorder caused by a deficiency in lysosomal Ī±-galactosidase A. Pain experienced by these patients significantly impacts their quality of life and ability to perform everyday tasks.
Does Fabry disease cause joint pain?
Joint pain and swelling were reported by 43% of male and 39% of female Fabry patients.
What are the treatments of Fabry disease?
There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.
What is a Fabry crisis?
Many Fabry disease patients experience Fabry crises, which are episodes of excruciating pain, fever, and burning sensations usually in the hands and feet. The burning sensation can also spread to other parts of the body and last between a few minutes to several days.
Is Fabry an autoimmune disease?
Discussion: Fabry disease is multi-systemic and shares common symptoms with autoimmune rheumatic diseases, for example fatigue (62%) and neuropathic pain (77%). The co-existence of Fabry disease and lupus nephritis histology on renal biopsy has previously been reported.
What does Fabry disease do to your body?
When you have Fabry disease, a certain type of fatty substance builds up in the cells of your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.
Is Fabry disease a disability?
If you or your dependent(s) are diagnosed with Fabry Disease and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
How would you handle a patient who struggles with pain management?
Simple Ways to Better Communicate with a Patient in Pain
- When entering the room of patients in pain, always tell them that you are there to help comfort them and to do your best to relieve their pain.
- Remain calm and show empathy.
- Express concerns for the patient’s feelings.
- Use āIā statements.
How do you deal with neuropathic pain?
Neuropathic Pain Treatment. Anticonvulsant and antidepressant drugs are often the first line of treatment. Some neuropathic pain studies suggest the use of non-steroidal anti-inflammatory drugs (NSAIDs), such as Aleve or Motrin, may ease pain. Some people may require a stronger painkiller.
Does Fabry disease qualify for disability?
Social Security Benefits If you or your dependent(s) are diagnosed with Fabry Disease and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
What is classic Fabry disease?
Fabry disease is a serious genetic disorder that can lead to life-threatening heart and kidney problems. It’s a progressive disease that worsens over time. Symptoms may develop during childhood (classic type) or middle adulthood (atypical type). Males tend to have more severe symptoms.
Is pain management effective for patients with Fabry disease?
Background: Neuropathic pain is one of the key features of (classical) Fabry disease (FD). No randomized clinical trials comparing effectiveness of different pain management strategies have been performed.
Which medications are used to treat neuropathic pain in Fabry disease?
Ries M, Mengel E, Kutschke G, et al. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis2003;26:413ā414.
Does Fabry disease affect the peripheral nervous system?
Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: The report of an expert panel. BMC Neurol2011;11:61.
What are the signs and symptoms of Fabry disease?
Patients with Fabry disease (FD) characteristically develop peripheral neuropathy at an early age, with pain being a crucial symptom of underlying pathology. However, the diagnosis of pain is challenging due to the heterogeneous and nonspecific symptoms.