A life on the line due to Castleman's disease: "When I was 18, they told me I wouldn't live to see 21. Today I'm 43."

"When I was 18, I was told I wouldn't live to see 21. I was also told it would be very difficult for me to have biological children. Well, I'm currently 43, and my son just turned 13. That's why I don't usually talk about the prognosis for the disease. I shape the future with my strength, my fight, and the confidence I have in never giving up, no matter how many obstacles or setbacks may appear along the way."

These are the words of Julia Asama, president of the Spanish Castleman Disease Association , to which she also belongs as a sufferer, which restricts her daily life. “The main problem the disease poses for me is the uncertainty of whether a new symptom will appear that will affect my life.”

For example, " a sudden infection or fever can lead to a severe relapse, paralyzing my daily life until I'm stabilized with hospitalization. This stay can last only a few days or several weeks. It's like living on a constant tightrope," says Asama, always balancing.

This is a rare disease with barely 100 cases in all of Spain. Recordati Rare Diseases is conducting an epidemiological study of this disease. It is characterized by the presence of multiple tumors in lymph nodes, even forming large masses. It may be unicentric, in which case it has no further symptoms, or multicentric (Julia's case), with several masses or involvement of several lymph nodes.

Varied and nonspecific symptoms

If the disease is multicentric, it can also "present varied and highly nonspecific symptoms, which can mimic any other tumoral, infectious, or inflammatory disease ," says Andrés González García, assistant professor of Internal Medicine at Ramón y Cajal University Hospital.

Castleman's disease is characterized by the presence of multiple tumors in lymph nodes, even forming large masses.

The nonspecific symptoms the expert mentions can lead to confusion with other pathologies, as it presents characteristics and symptoms similar to tumors, autoimmune diseases such as lupus, and infections. This leads to a delay in diagnosis and in the implementation of treatments that can improve the patient's quality of life . In fact, "without a diagnosis, it can be a fatal disease due to the complications arising from lack of treatment," according to González García.

Delay in diagnosis

In Julia's case, it took more than a year to get a diagnosis : "I discovered I had the disease after several months of very high fever, weight loss of 40 kilos, and severe anemia. I had to undergo surgery to remove my spleen, which had swollen to the point where it weighed 3.5 kilos and measured almost 56 cm." The analysis of the organ was what provided the key that helped give the disease a name.

When symptoms first appeared, " they thought it was anemia; the weight loss led them to suspect anorexia; the high and recurring fever suggested an infection or just the flu; and the abdominal pain suggested indigestion. No one suspected it was Castleman because no one knew her."

Professional ignorance

González García is aware of this: "Patients often face situations of delayed or underdiagnosed diagnosis . And when the disease is finally identified, there is a lack of knowledge about the best treatment for the patient."

In fact, because it is such a little-known disease, effective treatments are still being researched, most of them by the pharmaceutical company Recordati Rare Diseases , which specializes in pharmacology for rare diseases.