Emergency medical signals that PNH patients should not ignore

Author: Han Bing, Chief Physician, Peking Union Medical College Hospital

Reviewer: Jiang Qian, Chief Physician, Third Medical Center, PLA General Hospital

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired blood disease characterized by the production of abnormal blood cells in the bone marrow that lack protective proteins, leading to hemolysis, thrombosis, and a series of other complications. However, in recent years, significant progress has been made in the diagnosis and treatment of PNH, especially the use of complement monoclonal antibody eculizumab, which has brought unprecedented hope to patients.

PNH patients need to be highly alert to changes in their health status in daily life. Once the following symptoms occur, they should seek medical attention in time to confirm the diagnosis and take appropriate measures:

First of all, hematuria is one of the most common symptoms of PNH patients. As red blood cells are destroyed in blood vessels, the released hemoglobin can be excreted with urine, forming hematuria visible to the naked eye. The appearance of hematuria is often accompanied by discomfort in patients, such as frequent urination, urgency, and pain when urinating. At this time, you should immediately seek medical attention for detailed examination.

Secondly, the increased risk of infection and bleeding is also an important aspect that PNH patients need to be vigilant about. Due to the impaired immune system, PNH patients are susceptible to invasion by pathogens such as bacteria and viruses, leading to infection. At the same time, due to the accelerated destruction of red blood cells, the coagulation mechanism may also be affected, increasing the risk of bleeding. Therefore, patients need to pay close attention to abnormal manifestations such as changes in body temperature and bleeding spots on the skin and mucous membranes. If signs of infection or bleeding are found, they should seek medical attention immediately.

In addition, thrombosis is also one of the serious complications faced by PNH patients. Although the symptoms of thrombosis are often atypical, patients still need to be alert to symptoms that may be related to thrombosis, such as leg swelling, abdominal distension and pain, shortness of breath, and headache. The appearance of these symptoms may indicate the formation of thrombosis, and timely medical intervention and treatment are required.

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When treating PNH, doctors will adopt classified measures based on the patient's specific condition. For mild patients, if there are only a few PNH clones and no obvious symptoms, they can be temporarily exempted from treatment, but regular follow-up is required to observe changes in the condition.

For PNH patients with aplastic anemia as the main manifestation, the treatment principles are similar to those for aplastic anemia, and immunosuppressants or bone marrow transplantation can be used for treatment. Immunosuppressants reduce the attack on normal hematopoietic cells by suppressing abnormal immune responses, while bone marrow transplantation fundamentally cures the disease by replacing the damaged hematopoietic system. However, these methods all have certain risks and limitations, and need to be carefully selected according to the specific circumstances of the patient.

For PNH patients with hemolysis as the main symptom, the focus of treatment is to relieve the symptoms of hemolysis. Blood transfusion is an effective means to relieve the symptoms of hemolysis, but attention should be paid to the risks and complications that may be caused by blood transfusion. Hormone therapy is also one of the commonly used methods, but long-term use of hormones will bring many side effects, so it is necessary to closely monitor the patient's condition changes and the adverse reactions of hormones.

In recent years, with the continuous deepening of medical research, some new drugs have brought new hope for the treatment of PNH patients. Among them, complement monoclonal antibody - eculizumab, as a targeted therapeutic drug, has achieved significant results in the treatment of PNH.

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Eculizumab effectively relieves hemolysis and thrombosis symptoms by inhibiting the over-activation of the complement system and reducing the damage to the red blood cell membrane. Eculizumab is very safe and can even be used by pregnant women under close monitoring, bringing hope of childbearing to female patients of childbearing age. The drug has been marketed in many countries including my country and is widely used in the treatment of PNH, significantly improving the quality of life and survival of patients.

Currently, the goal of PNH treatment has shifted from pursuing a complete cure to effectively controlling the disease to improve the patient's quality of life and prolong survival. Although PNH is caused by gene mutations and cannot be reversed at present, many patients can still maintain a normal life and even play an important role in society through reasonable treatment. Bone marrow transplantation, as a last resort, is mainly suitable for patients with severe bone marrow failure and ineffective immunosuppressants.

Faced with the drug resistance and cost issues of complement monoclonal antibodies, researchers are actively developing a new generation of complement monoclonal antibody inhibitors, including C3 monoclonal antibodies, as well as longer-acting and even oral preparations, aiming to provide a wider range of treatment options. Domestic and foreign research institutions are exploring more economical and simple therapies to reduce the burden on patients and improve treatment accessibility.