Androgen or bone marrow transplant? The choice of treatment for Fanconi anemia

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

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

Fanconi anemia is an inherited blood disease characterized by bone marrow failure and a variety of non-hematological abnormalities. The complexity and diversity of the disease pose considerable challenges to treatment. However, with the advancement of modern medicine, patients have a variety of treatment options to relieve symptoms, improve quality of life, and delay the progression of the disease as much as possible.

For patients with mild symptoms and mainly manifested by blood system problems, drug treatment is usually the first choice. Androgens, as traditional therapeutic drugs, are widely used in the treatment of Fanconi anemia because they can extend cell telomeres and slow down the process of bone marrow failure. However, androgen therapy requires regular monitoring of blood counts and liver and kidney function to evaluate efficacy and prevent potential adverse reactions.

In addition to androgens, immunosuppressants such as cyclosporine have also been tried for some patients, but it is necessary to be vigilant about its liver and kidney toxicity and implement strict drug monitoring. For critically ill patients with severe cytopenia, hematopoietic stem cell transplantation is considered a possible means of curing the disease.

However, meticulous management of drug treatment is crucial. Although androgen therapy can effectively alleviate the condition, its potential side effects cannot be ignored. Long-term use of androgens may cause liver and kidney damage, especially in children and female patients. Masculine characteristics such as beard growth, hirsutism, acne, etc., as well as menstrual disorders and a deeper voice in adolescent women, may also appear. Some patients may even develop benign tumors in the liver. Therefore, when patients receive androgen treatment, they should regularly monitor blood counts, liver and kidney function, and sex hormone levels so that the treatment plan can be adjusted in time to reduce the occurrence of adverse reactions.

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In the face of possible adverse reactions, doctors will take symptomatic treatment measures according to the patient's specific situation. For example, for patients with liver damage, liver-protecting drugs or drug dosage adjustments can be given; for patients with renal damage, it is necessary to consider reducing or stopping the drug. In addition, for patients who do not respond well to drug treatment, the condition should be evaluated in a timely manner, and consideration should be given to changing the drug or taking other treatment methods, such as hematopoietic stem cell transplantation.

When drug treatment is ineffective or the patient's symptoms are severe, hematopoietic stem cell transplantation is considered a possible cure for Fanconi anemia. Generally speaking, patients with severe aplastic anemia-like manifestations are the main candidates for bone marrow transplantation. These patients have severe abnormalities in hematological indicators, such as extremely low neutrophils and platelets, which seriously threaten their life safety. At this time, restoring normal hematopoietic function through hematopoietic stem cell transplantation becomes the only way to save the patient's life.

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However, bone marrow transplantation is not suitable for all Fanconi anemia patients. Since the disease has a genetic predisposition, donor selection must undergo strict genetic screening to ensure the success and safety of the transplant. In addition, bone marrow transplantation itself has certain risks, such as graft-versus-host disease, infection and other complications, and patients need to make decisions after fully understanding the risks.

After hematopoietic stem cell transplantation, patients need to undergo a series of complex and strict monitoring to ensure the effectiveness of the transplant and prevent complications. Regular follow-up is not only to observe the chimerism of the transplant, but also to promptly detect and deal with transplant-related infections, bleeding, rejection reactions and other problems. Rejection reactions are divided into acute and chronic. The former occurs within 100 days after transplantation, while the latter may occur 100 days or even longer. Patients and their families should pay close attention. If any abnormal symptoms occur, they should seek medical attention in time. Professional doctors will determine whether it is a rejection reaction and take appropriate treatment.