Prevention is the best option

Recommendations for patients with rare lysosomal storage diseases during the coronavirus pandemic

Malalties minoritàries lisosòmiques durant la pandèmia del coronavirus

Individuals with certain lysosomal storage disorders can present a high risk of complications due to respiratory infections. For this reason they must be especially strict when following the health authorities’ advice to avoid being infected with coronavirus and experiencing possible complications.


People who have certain lysosomal storage disorders must fully comply with and follow the measures recommended by the health authorities to avoid contracting the SARS-Cov-2 virus, since it could cause additional complications.

What complications can COVID-19 cause?

Those who suffer from mucopolysaccharidosis, a lysosomal storage disorder, usually present skeletal abnormalities that restrict and affect their pulmonary and cardiac capacity (especially that related to the valves). Therefore, these patients have an increased risk of having respiratory complications, along with patients with Pompe disease (whose respiratory musculature is affected), due to an eventual COVID-19 infection. In addition, patients who have Fabry disease and who present advanced renal or heart damage have more risk for cardiovascular complications.

By contrast, until proven otherwise, patients with Gaucher disease type 1 who are stable and being treated, and people with Fabry disease who carry non-classic variants of the GLA gene and show no evidence of kidney or heart disease have a risk of severe complications similar to that of the general population, even though it is true that the latter may have less tolerance for fever and their pain may be worse.

What should patients with lysosomal storage disorders do during the pandemic?

  • Check to make sure that the medications or supplements you have at home have not passed their expiry date.
  • Keep a paper copy of the emergency guidelines, to show health professionals if needed.
  • Have the contact information for your expert monitoring team handy. Stored in your mobile phone, for example.
  • Have a thermometer at home. 

What about patients who are being treated with enzyme replacement therapy?

During these months of the pandemic, patients who receive enzyme replacement therapy and other specific treatments can continue to do so, but they must follow some specific guidelines. Administering the treatments in the hospital during the pandemic may entail difficulties related to the patient’s mobility and also to the risk of infection.

These guidelines should be followed in conjunction with the treatment plan, as long as the patient is stable and 6 months have elapsed since they began treatment, and the doctor managing it approves:
New guidelines:

  • Patients with MPS I in the chronic phase, and types II, IV, VI, and VII: administration of the habitual dose or a double dose, every two weeks, depending on the patient’s health status and the physician’s opinion.
  • Patients with Gaucher disease / Fabry disease: monthly administration of the habitual dose or a double dose, depending on the patient’s health status and the physician’s opinion.
  • Patients with Pompe disease / Wolman disease (lysosomal acid lipase deficiency): given the huge variability in the severity of the underlying illness, the risk of infection must be evaluated individually before increasing the interval for administering the medication.

In cases where it is decided to double the enzymatic treatment dosage, the preparation and infusion time, along with the increased possibility of infusion reactions, must be taken into consideration.

All of the measures necessary to avoid infection during the treatment administration process at the hospital must be followed. In addition, if they are required, performing the regular tests to control the clinical and biochemical markers should be adapted to the new guidelines.

These modifications to the treatment guidelines constitute an exceptional and temporary measure that will be revised in 2 or 3 months, depending on how the current health crisis evolves. In light of the current situation with the pandemic, the possibility of home treatment can be considered, when conditions allow for it. Patients with these illnesses must keep in mind that they have the possibility of consulting the Rare Diseases Unit by telephone to clear up any doubts or questions they may have. 

Recommendations for patients with Gaucher disease

Patients who are being treated for Gaucher disease with Cerdelga should keep in mind that among the treatments being used for COVID-19, one is a combination of antiviral medications like Lopinavir, Ritonavir, and also Hydroxychloroquine. These can interact with the drug Cerdelga and cause an irregular heartbeat. That is why the combination of these two pharmaceuticals must be avoided.

For those with Gaucher disease who have COVID-19 and are habitually treated with Cerdelga, if treatment with one of these antiviral medications and hydroxychloroquine is prescribed, their doctor or pharmacist must be informed, and the Rare Diseases Unit should be contacted (Tel case management nurse: +34 677 07 25 06) to consider the possibility of changing the dose of Cerdelga or of temporarily discontinuing the drug.

Related professionals
Sr. Marc
Moltó Abad
Rare diseases
Dr. Guillem
Pintos Morell