Fabry disease is a rare genetic disorder that affects various organs and systems in the body. It is caused by a mutation in the GLA gene, which leads to a deficiency or absence of an enzyme called alpha-galactosidase A (α-Gal A). This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3) or globotriaosylsphingosine (Lyso-Gb3).
Due to the deficiency of α-Gal A, Gb3 and Lyso-Gb3 accumulate in the cells throughout the body, leading to progressive damage and dysfunction. The symptoms of Fabry disease can vary widely in their severity and presentation, making diagnosis challenging.
1. Pain and Burning Sensations: One of the hallmark symptoms of Fabry disease is chronic pain, often described as a burning or tingling sensation. This pain can affect the hands and feet, and may also be present in other areas of the body. It is typically triggered or worsened by physical activity, hot weather, or fever.
2. Skin Manifestations: Fabry disease can cause distinct skin changes. These include small, dark red or purple spots called angiokeratomas, which are most commonly found in the lower abdomen, buttocks, and thighs. Additionally, individuals with Fabry disease may experience excessive sweating (hyperhidrosis) or have a reduced ability to sweat (hypohidrosis).
3. Gastrointestinal Symptoms: Many individuals with Fabry disease experience gastrointestinal issues. These can include abdominal pain, diarrhea, constipation, nausea, and vomiting. These symptoms may be mistaken for other digestive disorders, leading to delayed diagnosis.
4. Cardiovascular Complications: Fabry disease can affect the heart and blood vessels, leading to various cardiovascular problems. These may include an enlarged heart (cardiomyopathy), arrhythmias (irregular heart rhythms), heart valve abnormalities, and an increased risk of heart attack and stroke. It is important for individuals with Fabry disease to undergo regular cardiac evaluations.
5. Kidney Dysfunction: The accumulation of Gb3 and Lyso-Gb3 in the kidneys can cause progressive damage to these organs. Kidney involvement is a common feature of Fabry disease and can lead to proteinuria (excessive protein in the urine), reduced kidney function, and eventually, kidney failure.
In addition to the common symptoms mentioned above, Fabry disease can also present with less frequent manifestations:
1. Central Nervous System Involvement: Some individuals with Fabry disease may experience neurological symptoms. These can include headaches, dizziness, vertigo, ringing in the ears (tinnitus), hearing loss, and problems with balance and coordination. In severe cases, strokes or transient ischemic attacks (TIAs) may occur.
2. Eye Abnormalities: Eye complications can occur in Fabry disease, although they are less common. These may include clouding of the cornea (corneal opacity), cataracts, and abnormalities of the retina.
3. Respiratory Issues: Some individuals with Fabry disease may experience respiratory symptoms such as shortness of breath, wheezing, or asthma-like symptoms. These respiratory issues are less common but can occur due to the accumulation of Gb3 in the lungs.
4. Psychological and Psychiatric Symptoms: Fabry disease can also affect mental health. Some individuals may experience depression, anxiety, mood swings, or cognitive difficulties. These symptoms can significantly impact the quality of life for those affected.
Fabry disease is a complex disorder with a wide range of symptoms that can affect multiple organs and systems in the body. The severity and progression of symptoms can vary among individuals, making diagnosis challenging. If you or someone you know is experiencing any of the symptoms mentioned, it is important to consult with a healthcare professional for proper evaluation and diagnosis. Early detection and appropriate management can help improve the quality of life for individuals living with Fabry disease.