Fabry disease results from a genetic mutation of the GLA gene (i.e., galactosidase alpha). The severity and symptoms of Fabry disease vary according to one’s age. The classic form of Fabry disease can be seen from age 2, and symptoms (like a burning sensation in feet or hands) progressively worsen over time. Those with atypical or late onset of the ailment remain asymptomatic until the age of 30. Symptoms in such individuals manifest a cardiac disease or kidney failure.
Let’s look at the symptoms of this ailment so you can identify it better and seek timely medical advice.
What are the Symptoms of Fabry Disease?
An individual suffering from Fabry disease may experience the following symptoms:
- resistance to heat or cold sensations
- tingling or numbing sensation or pain or burning sensation in the hands/feet
- The eye movement becomes abnormal, which can be detected by a doctor during an eye examination conducted with a slit lamp.
- The body feels fatigued.
- Feeling dizzy
- GI disorders or gastrointestinal issues like constipation, abdominal pain, and diarrhoea
- Excruciating pain in the body when performing any physical activity
- Flu-like symptoms like fever and pain in the body
- Many might experience ringing in the ears (tinnitus) or hearing loss
- One of the Fabry syndrome symptoms of Fabry disease is the mutation of the genes due to galactosidase alpha. The presence of defective GLA does not allow the fatty cells to break down, leading to fat accumulation in the tissues as well as blood vessels.
- The kidneys might often get affected, leading to proteinuria (i.e., excess protein in the urine).
- Individuals diagnosed with Fabry disease are prone to heart failure, brain stroke, and kidney or organ failure.
- Symptoms of Fabry disease also include dark, raised skin abrasions (i.e., angiokeratoma) on the genital parts, the chest, and the back of an individual.
- Patients suffering from this disease sweat very little (a condition known as hypohidrosis) or hardly sweat (anhidrosis)
- Individuals diagnosed with Fabry disease may suffer from oedema (i.e., swelling) on their feet, ankles, or legs.
To avoid severe complications, people suffering from this disease should get timely medical attention and treatment.
Conclusion
The age at which the Fabry disease signs start showing depends on different factors. People should look for early symptoms like skin abrasion, fatigue, flu-like symptoms, skin lesions, and oedema on the legs and feet. Although a rare genetic disorder, a comprehensive health insurance policy will cover the costs of health-related issues when diagnosed with such ailments. Talk to your insurer and check whether your healthcare plan covers such disorders.
Disclaimer: The information provided in this blog is for educational and informational purposes only. It is not intended as a substitute for professional advice, diagnosis or treatment. Please consult a certified medical and/or nutrition professional for any questions. Relying on any information provided in this blog is solely at your own risk, and ICICI Lombard is not responsible for any effects or consequences resulting from the use of the information shared.