What is The Best Medicine for Anderson’s Disease?

Before the introduction of pharmacological enzyme substitution treatment, the treatment of Anderson-Fabry disease was only symptomatic.

It included analgesic treatment, dialysis, kidney transplant and treatment of the cardiac and cerebrovascular complications.

Symptomatic Treatment

For chronic pain, it is very useful to use carbamazepine, gabapentin, phenytoin and pregabalin. In case of painful crisis, the use of non-steroidal anti-inflammatory drugs (NSAIDs) or opioids have shown their efficacy.

It is important to avoid intense physical exercise, emotional stress and changes in temperature.

For the control of proteinuria (the presence of proteins in the urine), inhibitors of the converting enzyme of Angiotensin and Angiotensin Receptor Antagonists are used. A diet low in sodium and proteins is recommended.

In cases of insufficiency, digoxin or beta-blockers may be added. If the patient presents ischemic heart disease, beta-blocking drugs, calcium antagonists or nitrates are indicated. In rhythm disorders, antiarrhythmics, anticoagulants or even pacemakers are used. If dyslipidemia (it is a quantitative or qualitative disorder of lipids and lipoproteins in the blood) appears, it can also be prescribed statins.

In patients with cerebrovascular disease it will be associated antiplatelet or anticoagulants drugs. For gastrointestinal involvement, it can be used pancreatic enzymes, prokinetic, receptor inhibitors of histamine type 2 (anti-H2) or metoclopramide, but it is also recommended a diet low in fat, with frequent and low-volume intakes.

In pulmonary obstruction, it is necessary to add a bronchodilator. This is a medication that allows the bronchi to dilate so that the air can flow freely.

What is The Best Medicine for Anderson’s Disease?

Pharmacological Enzyme Replacement Therapy (ERT):

  • ERT is the treatment of choice in Anderson-Fabry Disease. Currently there are two treatments with a-Gal A: Agalsidase beta (Fabrazyme®, GENZYME) and Agalsidase alpha (Replagal ®, TKT) 4, both authorized by centralized procedure by the European Medicine Agency in 2001. The Food and Drug Administration (FDA) only approved agalsidase beta in 2004.
  • Agalsidase alpha has a short plasma half-life and one much longer tissue life. The recommended dose of agalsidase alpha in tab is 0.2 mg/kg in weight, administered as an intravenous infusion during 40 minutes, every 2 weeks.
  • Regarding agalsidase beta, the recommended dose is 1 mg/kg every 2 weeks at an initial rate of administration not higher than 15 mg/hour intravenous perfusion.
  • In patients with renal insufficiency, it is not necessary to adjust the dose of the ERT since the kidney contributes minimally to plasmatic clearance.
  • Clearance refers to the measurement of plasma volume from which a substance is completely removed per unit time (it is usually used ml/min).
  • Since the goal is to prevent, stabilize or reverse the progression of the disease, the ERT will be more effective the earlier it starts.

Contraindications of ERT:

  • Pregnancy and lactation.
  • Presence of another disease with vital commitment, whose prognosis does not vary with the ERT (life expectancy <1 year).
  • End-stage renal disease without option to transplant, in combination with advanced heart failure.
  • Severe cognitive impairment
  • Advanced heart disease with extensive fibrosis if the cardiac disease is the only indication for treatment.
  • Patients with severe Anderson-Fabry disease who do not benefit from the ERT.
  • It will be valued to suspend the ERT when:
  • The patient does not adequately comply with the treatment at least in 50% of the infusions or do not go to consultation for an adequate monitoring.
  • There is no improvement in the symptoms, or the progression of the disease does not stop after one year of treatment.
  • Side effects appear (which are not tolerated by the patient).
  • In general, long-term treatment with agalsidase alfa and beta is well tolerated. Most adverse effects are a consequence of the history of the disease and not attributable to the ERT.

Conclusion

It is defined that the ERT has proven its efficacy due to the improvement or not worsening of the renal, cardiac and neurological functions, but also the gastrointestinal symptoms, hearing, peripheral neuropathy, pain, sweating and quality of life. In the case of children, if there is a normalization of growth and development.

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