What is Acroparesthesia?
Tingling, pins-and-needles, burning, numbness, or stiffness in the hands and feet, particularly the fingers and toes, is referred to as acroparesthesia. There is also the possibility of episodic pain, which can be very severe. It’s one of the more prevalent symptoms of Fabry disease, and it’s more common than ischemia events, carpal tunnel syndrome, and other peripheral nerve lesions. COVID-19’s effect on Fabry disease patients getting enzyme replacement treatment is currently unknown. Fear of infection caused several patients receiving therapy in the hospital to have their infusions interrupted.
About Fabry Disease
Fabry disease is a rare genetic disorder caused by a lack of the enzyme alpha-galactosidase A (a-Gal A), which results in a buildup of globotriaosylceramide (Gb3, or GL-3) in the body. Fabry disease are a form of a lysosomal storage disorder. Lysosomes are enzyme-rich regions of cells that are segregated from the rest of the cell. These enzymes do not adequately metabolize certain fatty molecules in a lysosomal storage disease.
As a result, undigested fat molecules build up in the cell, impairing its ability to function. The alpha-galactosidase A enzymes are lacking in Fabry disease, resulting in the accumulation of globotriaosylceramide, which can damage the function of the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system.
Fabry disease is caused by a mutation in the gene that produces the alpha-galactosidase enzyme, which is found on the X chromosome. Fabry affects predominantly men, while it is possible for females to inherit the disease in rare cases. Fabry disease is a degenerative condition with symptoms affecting the kidneys, heart, and brain most commonly appearing in patients between the ages of 30 and 45.
Is Fabry disease genetic?
Fabry disease is a hereditary condition. A mutation, or change, in a section of a person’s DNA, causes a genetic condition. The faulty gene in Fabry disease is found on the X-chromosome, one of two sex chromosomes. At birth, a person’s gender is determined by sex chromosomes. Each parent gives each child one sex chromosome. Fathers can pass on either an X or a Y chromosome, whereas mothers only pass on X chromosomes. The offspring’s sex is determined by the father’s chromosome: girls have two X chromosomes (XX), whereas men have one X chromosome and one Y chromosome (XY).
Fabry disease primarily affects men, who are born with one X chromosome carrying the defective gene. Females with Fabry disease receive one X chromosome with the faulty gene as well; however, because females have two X chromosomes, the normal X chromosome can protect them from developing the condition.
A genetic mutation results in a deficit of an enzyme called alpha-galactosidase A, which causes Fabry disease (a-Gal A). The body does not produce enough of this enzyme due to a genetic abnormality, resulting in an accumulation of a form of fat termed globotriaosylceramide (Gb3, or GL-3) in the body, which produces the symptoms of Fabry disease. Fabry disease is caused by an X-linked inheritance, which means that it is caused by a deficiency in the X chromosome. Males are more likely to have X-linked genetic mutations than females.
Both male and female children have a 50 percent risk of receiving the faulty gene for Fabry disease if their mother carries it. If the father has the Fabry gene, the female children will inherit it because the father gives them an X chromosome, but the male children, who receive a Y chromosome, will not. Females who inherit a faulty X chromosome are known as carriers, and their male children may inherit the genetic abnormality.
What signs and symptoms are shown in Fabry disease?
Signs and symptoms in Fabry Disease are:
- Episodes of burning and pain sensations in the hands and feet, which are also known as acroparesthesias. This can be triggered by exercise, stress, fatigue, fever, or changes in weather.
- Small, dark red spots are seen on the skin known as angiokeratomas, mostly in clusters from the belly button to the knees.
- Cloudiness of the eye
- Joint pain
- Hearing loss
- Ringing in the ears
- Abdominal discomfort
- Frequent bowel movements after eating
- Gastrointestinal (GI) problems
- Decreased ability to sweat
- Cloudiness of the front part of the eye
- Back pain in the kidney area
- Mitral valve prolapse.
Kidney impairment, cardiac disease, heart attacks, and strokes are all complications of Fabry disease.
What is the average prevalence of Fabry disease?
Fabry disease is thought to afflict one out of every 40,000 males. Females are not known to be affected by Fabry disease. It can afflict people of various races, but it primarily affects Caucasians. Late-onset Fabry disease, which is milder than the classic severe variant discovered earlier in life, is more prevalent.
Which tests and procedures are used to diagnose Fabry disease?
Because Fabry disease is so uncommon, it might be difficult to diagnose. A measurement of leukocyte alpha-Gal A enzyme activity is the standard test for Fabry disease diagnosis. This test can detect the existence of the Fabry disease mutation in males, but it only detects around half of the female carriers.
Is there a treatment for Fabry disease, what is the cure?
To help normalize kidney function, heart function, and blood supply to the brain, Fabry disease can be treated with enzyme replacement treatment with agalsidase-alpha (Replagal) or agalsidase beta (Fabrazyme).
Other treatments for Fabry disease are targeted at relaxing individual symptoms:
- Antiplatelet drugs such as ticlopidine, aspirin, clopidogrel (Plavix), and aspirin-dipyridamole (Aggrenox) are few prescribed medications to prevent recurrence of ischemic strokes.
- Carbamazepine (Tegretol), phenytoin (Dilantin), or gabapentin (Neurontin) may prevent episodes of burning and pain sensations (acroparesthesias). Opioids may also be prescribed for serious pain.
- In severe Fabry disease that has progressed to kidney failure, hemodialysis and kidney transplantation may be necessary.
- Warfarin (Coumadin) may be prescribed to prevent cardioembolic strokes.
- ACE inhibitors and/or blockers are majorly prescribed for high levels of protein in the urine (proteinuria) due to kidney damage.
- Pancrelipase (Ultrase), metoclopramide (Reglan), H2 blockers, such as cimetidine (Tagamet), famotidine (Pepcid, Zantac 360), and others, and loperamide (Immodium) can help and relieve gastrointestinal symptoms.
- Hearing loss may be cured with the help of hearing aids.
- High cholesterol should also be treated.
- Moreover, apart from medications, patients should have proper exercise, a balanced diet, and avoid smoking.
- Patients having high blood pressure (hypertension) could be prescribed anti-hypertensive medications and they must keep blood pressure under control.
Because Fabry disease may affect different organs in the body and the different specialists who may be consulted are:
- Cardiologist for heart problems
- Neurologist or neurosurgeon for brain and nervous system symptoms
- Gastroenterologist for digestive problems
- Nephrologist for kidney problems
- Otolaryngologist (ear, nose, and throat doctor, or ENT) for hearing issues
- Ophthalmologist for eye problems
- Additionally, patients may benefit from working with nutritionists, physical therapists, and psychologists to manage symptoms rightly.
What is the life expectancy for a patient with Fabry disease?
Males with Fabry disease have a life expectancy of about 58 years, and females with Fabry disease have a life expectancy of slightly over 75 years. Cardiovascular disease is the leading cause of death in both men and women.
