Chiropractic Treatment of a Patient with back pain found to have Fabry Disease
My wife receives bi-weekly infusions of Fabrazyme at The Royal Free Hospital in Hampstead North London. She is under the care of a life saving team of Fabry disease specialists who have helped our family get through genetic counseling. The miracle of it all is that she was diagnosed only 2 months before the birth of our son. Had we known about the implications of Fabry disease and the risks of children getting the disease we would not have had children.
Our son luckily was tested negative for Fabry disease and we have decided to have no more children due to the risk of them having Fabry. Fabry disease doesn’t just affect the person thatâ€™s got it, it affects the extended families that often have been there through the whole process, in and out of different specialists until eventual diagnosis.
I only hope to help people understand that there is such a thing as Fabry disease. It presents in a similar way to some other conditions mentioned. If more health professionals and the public know about it then there is an increased chance of detecting it in those that have it. Chiropractors have a role to play in differential diagnosis and like me can help direct a patient with strange symptoms to seek an appropriate avenue for further investigation.
Chiropractic manipulative therapy on a patient with Fabry disease
Chiropractors may have already be treating patients with Fabry disease and may provide chiropractic treatment for some Fabry disease patients with low back pain on an individual case by case basis. Contraindications to various presenting symptoms still dictate whether a Fabry disease patient is a candidate for chiropractic care as the disease affects patients differently.
Spinal manipulative therapy has helped my wife Sacha Knight with increased motion and less joint restrictions in her lower back. Caution should be taken with cervical manipulations as Fabry disease patients have an increased likelihood of stroke and I would suggest this area be avoided.
As expected, there is no available literature to either support or refute the use of chiropractic treatment for lower back pain on patients suffering with Fabry disease patients and unfortunately I must rely on my own anecdotal evidence with treatment by me on my wife.
How a chiropractor can help direct a patient with suspected Fabry disease suffering with low back pain to seek correct medical care
A thorough history, well directed screening questions, past medical diagnoses a physical evaluation including neurological testing and muscle strength testing can all help build a differential diagnosis once we know what Fabry disease is. Asking about the pain, whether there’s a pattern or if it follows a dermatome. Is it non-descript, does it follow any medical journals or current research?
Knowing the correct pressure point areas to help diagnose Fibromyalgia helps rule it in or out
Testing the Pressure points for Fibromyalgia, differentially diagnosing other symptoms and coming to the best working diagnosis all help.
Knowing the symptoms of Chronic Fatigue syndrome- helps rule out or in other symptoms
- Testing Blood Pressure – patients with Fabry disease commonly have hypertension (elevated blood pressure)
- Checking the skin for papules and rashes on the thighs, abdomen, buttocks and thigh
- Testing sensation – Patients with Fabry disease have widespread pain, non-descript affecting whole areas of the body and donâ€™t follow a dermatome or myotome.
- Anhydrodsis – dry skin/dehydration
- Raynauds disease and neuropathy – cold digits in the finger and toes and lack of blood perfusion in the extremities.
- Dip Stick Urine test – detects proteinuria (protein in the urine)
- Cranial nerve exam – checking for ocular involvement – vortex keratopathy, clouding of the cornea test revealed she had actually had Fabry disease.
Fabry disease and the family
Fabry disease doesn’t just affect the person that’s got it, it affects the extended families that often have been there through the whole process, in and out of different specialists appointments until eventual diagnosis.
History of Fabry disease
Fabry disease is a rare genetic disease which was only recently discovered by Anderson Fabry. It is an autosomal dominant genetic inherited disease affecting the availability of Alphagalactosidase A enzyme. Males are usually affected more severely than females, this is thought to be due to males carrying 2 of the same chromosomes (X), whereas females have 2 different chromosomes (X and Y). It is therefore presumed that if a male has Fabry disease therefore there is no back-up chromosome and little chance of a functioning Alphagalactosidase A enzyme that works.
Pathophysiology of Fabry disease
At a structural level a mutation occurs in the enzyme leading to premature build up of fatty tissue in the blood vessels and organs in the body. This leads to organ failure especially in the liver and kidneys.
Commonly misdiagnosed conditions and Fabry disease
Many patients suffering with Fabry disease have been undiagnosed for years, commonly suffering with their symptoms and unfortunately have been misdiagnosed as having chronic fatigue syndrome, familial Mediterranean hyperplasia, Gout, Fibromyalgia, psychogenic pain and other similarly presenting conditions.
Symptoms of Fabry disease
Characterized by non-specific sharp, burning pain in the upper and lower extremities caused by damage to the peripheral nerve fibres. More consistent findings include Gastrointestinal pain, nausea, lethargy, weakness and dysphagia.
Other possible symptoms which a patient with Fabry disease has:
- Copper taste in the mouth
- Sea lion sounding cough
- Non-epileptic seizures
- Long-term effects of Fabry disease and morbidity
- Premature end stage organ failure and Increased risk of strokes
How is Fabry disease diagnosed?
Often clues lead to referral for a genetic test. My wife had a benign keratopathy detected by an eye doctor in a routine eye exam which led to referral for genetic testing.
The definitive test for Fabry disease is the genetic blood test, this confirms the diagnosis of Fabry disease.
Fabry disease and genetic counseling
Newly diagnosed patients with Fabry disease undergo extensive testing on a regular basis, family counseling and tracing back through past family history is also essential to detect other sufferers and carriers.
Can Fabry disease affect offspring
Offspring of Fabry disease sufferers have a 50% chance of inheriting the disease.
What is the treatment for Fabry disease?
Currently the only treatment available is bi-weekly intravenous infusions of fabrazyme/Genzyme
Fabry disease Funding and Research
To help fund research events and more information on ways you can help please contact the The Society for Mucopolysaccharide Diseases (the MPS Society).