“The chameleon diagnosis”: 7 myths about Fabry disease it's time to dispel

Fabry disease is one of the most enigmatic rare diseases. This rare condition is being diagnosed increasingly often in Russia: over the past 10 years, the number of identified patients has increased 70-fold, reaching nearly 350 people. However, experts believe that the actual number of patients in Russia is much higher and may reach 5,800. On the occasion of Fabry Disease Awareness Day, together with experts, we dispel the most common myths about this disorder.

Myth 1. Fabry disease is so rare that it is not worth considering

In fact: the disease occurs much more frequently than it is diagnosed.

The increase in detection rates in recent years is linked to advances in diagnostics. However, 85–90% of patients still remain unaware of their condition.

Due to the specific clinical presentation of Fabry disease, patients may spend years unsuccessfully treating heart or kidney disorders without realizing that Fabry disease is the underlying cause. Early diagnosis makes it possible to start therapy promptly, which can improve patients’ condition and quality of life and help prevent complications.

Since the disease is hereditary, specialists recommend screening close relatives of affected patients.

Myth 2. The disease affects only men

In fact: Fabry disease can occur in both men and women.

In addition, diagnostic tests are not equally informative in men and women. For example, when measuring alpha-galactosidase enzyme activity and lysosphingolipid levels (particularly lyso-Gb3) in dried blood spots, enzyme activity in men is almost always reduced, whereas in women it often remains normal, making the test less informative for them. At the same time, lyso-Gb3 levels are generally elevated in patients of both sexes, although they may remain normal in asymptomatic girls.

Myth 3. Fabry disease is easy to recognize based on symptoms

In fact: it is a true "chameleon diagnosis".

The disease presents with numerous nonspecific symptoms and may mimic a wide range of other conditions, from rheumatologic to cardiologic disorders.

Experts therefore emphasize the importance of including Fabry disease in neonatal screening programs.

In adults, the disease should be suspected in patients with left ventricular hypertrophy, cardiomyopathy, renal dysfunction, previous stroke, angiokeratomas, corneal verticillata, or neuropathic pain in the extremities.

Myth 4. Fabry disease is not dangerous and does not require urgent treatment

In fact: it is a severe progressive disease.

Treatment should begin as early as possible. Without therapy, lipids accumulate in cells, leading to damage to the heart, kidneys, and blood vessels.

Enzyme replacement therapy can slow the development of serious complications. In boys, treatment is recommended immediately after diagnosis. In girls, therapy is initiated once symptoms appear.

Myth 5. Fabry disease cannot be treated

In fact: effective therapy exists.

The cornerstone of treatment is enzyme replacement therapy (ERT), which compensates for enzyme deficiency and prevents organ damage.

Timely therapy allows clinicians to:

● slow disease progression,

● reduce the risk of complications,

● improve patients’ quality of life.

Myth 6. Treatment for Fabry disease is difficult to access

In fact: access to therapy in Russia has improved substantially.

Various treatment options for Fabry disease are available in Russia. Medicines containing agalsidase beta have become the gold standard. Local production of agalsidase beta (Fabagal^®) at the facilities of Petrovax Pharm has made therapy 40% more affordable.

This is a unique example in Russia of full-cycle localization of an orphan drug, including active substance production starting from the cell line.

During a visit to Russia, American scientist Robert J. Desnick, one of the pioneers of enzyme replacement therapy development, noted that the Russian product costs significantly less than the foreign original while having comparable characteristics (pharmacokinetics, dosage, and glycosylation profile) and therefore equivalent efficacy.

More than 80 patients in Russia are already receiving therapy with this medicine.

Myth 7. Diagnosing Fabry disease is difficult and inaccessible

In fact: modern methods allow the disease to be identified at early stages.

The following are used:

● laboratory testing (enzyme activity, Lyso-GB3),

● molecular genetic testing,

● family and selective screening.

Special diagnostic programs exist in Russia. For example, a cardiology screening program implemented by the Research Centre for Medical Genetics named after Academician N.P. Bochkov in collaboration with Petrovax Pharm examined around 300 patients, with the diagnosis confirmed in four of them — underscoring the importance of selective screening.

Fabry disease is a rare hereditary disorder caused by deficiency of the enzyme alpha-galactosidase, leading to lipid accumulation and damage to vital organs. Increased awareness, expanded screening, and access to modern therapy can significantly improve outcomes for thousands of patients.