Fabry disease is a rare disease associated with a deficiency of one of the enzymes – alpha-galactosidase A. Its task is to uncouple the fatty substance, which is contained in the shell of cells and performs a protective function. If the enzyme is not produced enough or it is not active enough, waste substances begin to accumulate in the cells of different organs, disrupting their work.
The disease can manifest itself already in childhood – in the form of pain in the arms and legs, gastrointestinal disorders, skin lesions of capillaries, and increased sweating.
As the disease progresses, kidney dysfunction may occur, the thickness of the wall and mass of the left ventricle of the heart increases, the risk of complications such as terminal renal failure, stroke, myocardial fibrosis, and arrhythmia increases.
Symptoms of Fabry disease
The symptoms of Fabry disease can vary considerably even among members of the same family. The main manifestations are:
- Characteristic appearance: in men, acromegaly manifests itself with a protruding forehead, large jaws and lips, and a sunken bridge of the nose.
- Angiokeratomas: dilated capillaries that form nodules on the skin, most commonly on the palms, abdomen, buttocks and groin.
- Foot and hand pain: 60-80% of patients suffer from chronic pain caused by nerve damage, which can be aggravated by stress or exercise.
- Sweating problems: from complete lack of sweating to hyperhidrosis.
- Vascular dementia: impaired memory and cognitive function due to damage to the blood vessels of the brain.
- Kidney problems: protein in the urine, progressive kidney failure.
- Cardiac hypertrophy: thickening of the left ventricular wall that leads to heart failure.
- Lymphedema: edema leading to impaired tissue nutrition and infections.
- Corneal opacity: a typical symptom occurring in 70-90% of patients.
- Digestive disorders: abdominal pain, bloating, decreased appetite, nausea and vomiting.
- Hearing and balance problems: dizziness, tinnitus and hearing loss.
Symptoms often appear at puberty, but may begin as early as age 2-4 years.
How the disease is treated
Until the early 2000s, patients with Fabry disease received only symptomatic treatment to relieve pain.
Today, enzyme replacement therapy with drugs is used to treat Fabry disease. These drugs help make up for the deficiency of an enzyme that is damaged due to a mutation and normalize the process of breaking down certain substances in cells. This helps to reduce the symptoms of the disease, improve the patient’s quality of life, reduce the risk of complications and prolong life.
In addition, depending on what symptoms a particular patient is experiencing, doctors may prescribe additional medications for symptomatic treatment. For example, painkillers to relieve nerve pain.
Studies show that the effectiveness of treatment depends on when it is started: the greatest improvements are seen in patients who have not yet had their internal organs affected. Without treatment, patients may live 10 to 15 years less.
Complications
Fabry disease can develop serious, life-threatening and life-threatening complications:
- Cardiovascular complications are the leading cause of death. There is a risk of heart attack, arrhythmias, severe heart failure, cardiomegaly.
- Severe chronic renal failure is also on the list of the most common causes of death in Fabry disease.
- Patients have a high risk of stroke between the ages of 20-50, both ischemic (due to impaired blood flow) and the more dangerous hemorrhagic stroke (due to hemorrhage). If a stroke has occurred once, the likelihood of recurrent ones is very high.
- Sepsis (“blood poisoning”) is a possible complication of lymphedema.
- Excruciating, debilitating pain due to polyneuropathy.
- Deafness.
Treatment of Fabry disease
There is no complete cure for Fabry disease because methods that can repair the defective gene or enzyme have not yet been developed. Treatment involves two types of therapy, which the patient must receive continuously:
- Enzyme replacement therapy is the administration of enzymes through biweekly injections. This helps to improve the functioning of the heart, blood vessels, nervous system and kidneys, delaying the development of organ failure. This treatment is administered to all men diagnosed, and to women when symptoms are present.
- Enzyme stabilizers – drugs that help to restore the structure of the defective enzyme.
In addition, symptomatic treatment is carried out, which depends on the affected organs.
Prognosis and prevention of Fabry disease
Treatment can help maintain normal health and delay severe organ damage. Nevertheless, people with Fabry disease more often and at an earlier age develop life-threatening complications. Currently, men often live to the age of 50, and women with a milder form of pathology – up to 70 years. If no treatment is carried out, the prognosis will be worse.
If a person is found to have a mutation in the GLA gene, and he is planning a child, he needs to consult with a clinical geneticist. The specialist will tell how high the probability of passing the defective gene to children is, and what can be done. If the risk is high, in vitro fertilization is usually recommended. During this procedure, preimplantation genetic testing can be performed and a healthy embryo can be selected for transfer into the uterus.
Importance of early diagnosis and ongoing management
Early diagnosis of Fabry disease is crucial for effective management and preventing irreversible organ damage. The disease’s symptoms often overlap with other conditions, making it challenging to recognize without specialized testing. Genetic screening and enzyme activity tests play a key role in confirming the diagnosis, particularly in individuals with a family history of the disease or those presenting with characteristic symptoms. Ongoing management through enzyme replacement therapy and symptom-specific treatments can help reduce the burden of the disease, minimize complications, and enhance the overall prognosis. Regular monitoring of kidney, heart, and neurological health is essential to detect any early signs of organ involvement and adjust treatment plans accordingly. By ensuring early intervention and continuous care, patients with Fabry disease can lead a better quality of life.
Conclusion
Fabry disease is a rare but serious genetic disorder that requires careful attention and early diagnosis. Although there is no complete cure, modern treatments such as enzyme replacement therapy can significantly improve patients’ quality of life, delay the development of complications and prolong life. However, the key remains the early initiation of treatment when vital organs are not yet affected. It is also important to consider genetic predisposition in family planning to reduce the risk of passing the disease on to offspring. Effective treatment and monitoring of the patient’s condition can minimize the risks associated with Fabry disease and significantly improve life expectancy.
