Knowledge of rare hematological diseases, such as amyloidosis and mantle cell lymphoma, is still low in the public and among doctors. Therefore, they are diagnosed too late, treated less well, and patients who suffer from them have penny access to new therapies.
Rare hematological diseases require better diagnosis and access to drugs. There are first changes to the reimbursement list
Published April 21, 2023 08:00
Fot. Getty Images/iStockphoto
Amyloidosis is a disease that is particularly difficult to diagnose because its symptoms are not specific and can vary widely from patient to patient. It is, in fact, a group of more than 30 rare and ultra-rare diseases. What they have in common is the deposition of abnormal proteins (amyloid deposits) in various tissues and organs, which can lead to their failure.
The most common form of the disease is amyloidosis of the light chains (AL amyloidosis), which accounts for up to 80 percent of amyloidosis cases. In this form, there is a small proliferation of plasma cells in the bone marrow that produce pathological immunoglobulin - usually the lambda subtype of immunoglobulin light chains. These can be deposited as amyloid deposits in any organ, but the heart and kidneys are most commonly affected, while the liver, gastrointestinal tract, nervous system or soft tissues (such as the tongue) are less commonly affected. - Since these are different organs in different patients, the symptoms of this disease also vary greatly. Each patient may have a different clinical picture of amyloidosis. That's why the diagnosis of this disease is difficult," says Prof. Krzysztof Jamroziak, deputy head of the Department of Hematology Transplantology and Internal Medicine at Warsaw Medical University (WUM).
Patients end up going to various specialists on their diagnostic pathway - cardiologist, nephrologist, gastrologist. - I refer to this as a diagnostic odyssey," says the hematologist.
Since the disease can lead to significant weight loss, weakness and cachexia, patients with amyloidosis are often tested for disseminated cancer. According to Prof. Jamroziak, amyloidosis can begin to be suspected when tests do not show cancer, and the patient has, for example, proteinuria without a known cause (such as diabetes or a history of glomerulonephritis), or echocardiography shows diastolic heart failure. - The most important test that should be performed when amyloidosis is suspected is the evaluation of serum levels of free immunoglobulin light chains, Prof. Jamroziak stresses. If their concentration is abnormal one should continue diagnostics for amyloidosis.
The disease develops most often in older people - between 60 and 80 years of age, but younger people can also get sick. In Poland, about 300-400 new patients should be diagnosed each year. However, in practice, the numbers are smaller, as many patients die without being diagnosed.
Meanwhile, early diagnosis of amyloidosis allows treatment to be applied, allowing patients to live up to a dozen years.
The treatment for this disease uses the same drugs that have been registered for the treatment of plasmocytic myeloma. Some of them are reimbursed in Poland.
The first drug to gain registration in amyloidosis is the anti-CD38 monoclonal antibody daratumumab. As a clinical trial has shown, adding it to standard chemotherapy clearly improves cardiac function and kidney function in patients with amyloidosis. According to Prof. Jamroziak, these results are a breakthrough. However, the drug is not reimbursed in Poland.
Mantle cell l ymphoma is also a disease with diagnostic delays, even though its diagnosis should be easier. It accounts for 6 percent of all lymphoma cases in Poland. The median age of patients is 60-70 years. - The most common symptom of this disease is enlargement of lymph nodes. These may be peripheral lymph nodes, and then the diagnosis is the simplest, but there may also be enlarged lymph nodes in the mediastinum or abdominal cavity. And here the diagnostic process is longer," assesses the president of the Polish Society of Hematologists and Transfusionists, Professor Iwona Hus. Other symptoms of this lymphoma include recurrent fevers or subfebrile states, weight loss, night sweats, enlargement of the spleen, liver. In mantle cell lymphoma, the gastrointestinal tract is often involved and is sometimes detected during gastroscopy.
The basis of diagnosis is a biopsy of the enlarged lymph node.
In most cases, mantle cell lymphoma has an aggressive course and can very quickly (within a few months) lead to the death of the patient. Therefore, it should be diagnosed and treated as soon as possible. It is also an incurable lymphoma with a recurrent nature.
Until now, the biggest problem with treating patients with this lymphoma in Poland has been the lack of reimbursement for Bruton's kinase inhibitor drugs (ibrutinib) for patients who rapidly develop resistance to immunochemotherapy and relapse, and Bruton's kinase inhibitors could only be used in patients with mantle cell lymphoma under the Rescue Access to Drug Technology (RDTL) procedure. May's reimbursable drug list brings good news for patients: Ibrutinib has been included in the existing drug program B.12.FM Treatment of patients with B-cell lymphoma (ICD-10: C82, C83, C85).
