Fabry Disease in Croydon
Chiropractors may already be treating patients with Fabry disease and may provide chiropractic treatment for some patients with low back pain on an individual case by case basis. Contraindications to various presenting symptoms still dictate whether a patient is a candidate for chiropractic care as the disease affects patients differently.
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. 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 commonly have hypertension (elevated blood pressure)
- Checking the skin for papules and rashes on the thighs, abdomen, buttocks and thigh
- Testing sensation – Patients have widespread pain, non-descript affecting whole areas of the body and don’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.
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 (Xand 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.
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
Many patients suffering 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.
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 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
Often clues lead to referral for a genetic test.
The definitive test is the genetic blood test, this confirms the diagnosis.
Genetic counseling
Newly diagnosed patients 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.
Disease and the family
This 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.
Can offspring be affected?
Offspring of sufferers have a 50% chance of inheriting the disease.
What is the treatment?
Currently the only treatment available is bi-weekly intravenous infusions of fabrazyme/Genzyme
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).
Links
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