For a long time, only the distressing symptoms of Fabry disease could be treated. These treatments still play a role today as adjunctive treatments.
In the meantime, however, 3 drugs have also been approved for the causal treatment of Fabry disease. Two of these drugs are so-called enzyme replacement therapies (ERT) and the third drug is a so-called chaperone therapy.
In ERT, the missing enzyme is administered to the patient every 2 weeks via an infusion into the vein. The first infusions take place at the attending physician. As a rule, this is a doctor of a special treatment center (Fabry center). If the patient tolerates the medication well, the further infusions can be made at the patient’s home (home therapy) or at a local doctor. In home therapy, a specially trained nurse comes to the patient’s home and administers the infusion. There is also the possibility that the patients or family members learn to carry out the treatment themselves.
The enzyme that is infused is a biotechnologically produced variant of α-galactosidase A. The enzyme is produced in cell cultures. Different cells are used in the production of the two EETs approved to date. Replagal (Agalsidase alfa)
Replagal is manufactured by the company Shire, which is now part of the company Takeda. For this purpose, human cells from the connective tissue (fibroblasts) are used.
Infusion with Replagal lasts 40 minutes.Fabrazyme (agalsidase beta)
The manufacturer of Fabrazyme is the company Sanofi Genzyme. In the production of Fabrazyme, ovarian cells of the Chinese hamster are used. These are also called CHO cells.
The infusion with Fabrazyme lasts 4 hours for the first infusions. If the drug is well tolerated, the time can be shortened to 90 minutes. Chaperone therapy
In chaperone therapy, the effective drug is a so-called chaperone. These are involved in the production of enzymes in the body. They ensure that an enzyme gets the right shape. Since Fabry disease is caused by various mutations, chaperone therapy is not an option for every patient. Whether a mutation is suitable for treatment with chaperone therapy, patients can find out from their attending physician. Galafold (Migalastat)
Galafold is the only approved chaperone therapy to date. It is manufactured by the company Amicus Therapeutics.
Galafold is a tablet. It must always be taken at the same time every 2nd day. The patient must not eat for 2 hours before and after ingestion. Concomitant treatment
In addition to the causal treatment of Fabry disease, concomitant treatment plays a role in most patients. This varies from patient to patient and depends on the patient’s symptoms.Pain
Pain is the most noticeable sign of Fabry disease. Often they already make themselves felt in childhood. Each patient suffers from pain to varying degrees. In some patients, the pain is triggered by certain situations. One also speaks of pain triggers. These include physical exertion (sports), sun and heat, severe temperature fluctuations, stress, fatigue and illness. These should avoid Fabry patients.
Depending on the type of pain, medication may also be used. Contact persons are doctors with special training for pain therapy, e.g. in a pain outpatient clinic.
In Fabry disease, the function of the kidneys is often impaired. Therefore, regular checks of kidney function are important. This should be done by a kidney doctor (nephrologist).
If the kidney function is impaired, this can be recognized by an increased excretion of protein in the urine. This is also called proteinuria. In this case, treatment with an ACE inhibitor or an AT1 antagonist is useful. Heart
In Fabry patients, the heart and heart function are often affected. These should be checked regularly by a heart specialist (cardiologist). The first sign may be an irregular or racing heartbeat. In the further course, a pathological enlargement of the heart (so-called hypertrophy) and the development of heart failure (so-called heart failure) are possible.
Various medications are available for the treatment of heart problems, e.g. beta-blockers. Under certain circumstances, surgery or a pacemaker may also be necessary. Central nervous system
Fabry disease can lead to circulatory disorders in the brain. If these lead to an interruption of the blood supply, it comes to a stroke.
To reduce the risk of another stroke, blood-thinning medication may be prescribed. Digestion
Many patients suffer from gastrointestinal complaints. Possible discomfort can be cramping abdominal pain, especially after a meal. Diarrhoea, constipation, bloating, nausea and vomiting also occur.
Medications to speed up gastric emptying can relieve the symptoms. Cheap are several, but small meal portions. In addition, a change in diet can relieve the discomfort. Which changes are helpful differs from patient to patient. For many, a low-fat diet helps. Some patients have been helped by avoiding milk or certain dairy products. Also, the renunciation of whole grains or meat can provide relief. Often a complete renunciation is not necessary, but only a reduction. This is easy to achieve when switching to smaller portions at the same time. Lesions
In those affected, point-shaped dark red skin spots are sometimes visible. These can be seen, for example, on the thighs, buttocks, lower abdomen and lumbar region. The skin changes can already occur in childhood. They can also be one of the first signs of Fabry disease.
The skin changes in Fabry disease are harmless. They usually do not cause any discomfort, but they can bleed. Here a cosmetic correction is possible. The point-shaped raised reddening of the skin is removed with a laser. Perspire
Patients with Fabry disease often cannot treatment sweat or cannot sweat properly. The body produces no or less sweat than in healthy individuals. Those affected therefore tolerate heat and physical exertion poorly. They react with nausea, lightheadedness, headaches or even fainting.
High temperatures should be avoided. In summer, wearing a hat as well as drinking cold drinks can help. In addition, you can cool off with cold water. Eyes
Many Fabry patients experience typical eye changes. Small, vortex-shaped yellowish lines appear on the cornea. With the naked eye, these changes are usually not visible and they do not affect vision. The ophthalmologist can detect the changes with the help of a (painless) special examination, the so-called slit lamp microscopy.
Treatment of eye changes (not visible to the naked eye) is not possible and also not necessaryears
Some patients suffer from hearing loss or ringing in the ears (tinnitus). Then you should go to such an ear, nose and throat doctor (ENT doctor). He can then take a hearing test (audiogram).
If hearing is more limited, a hearing aid should be considered. Hearing aid technology is very advanced nowadays. For many patients, hearing with a hearing aid means a significant improvement in quality of life.