What Is Paroxysmal Cold Hemoglobinuria?
Paroxysmal cold hemoglobinuria is a rare autoimmune blood disorder that causes the destruction of red blood cells by the autoimmune antibodies in exposure to cold temperatures.
Paroxysmal cold hemoglobinuria was first described in 1904, in the medical literature, it was considered that paroxysmal cold hemoglobinuria is an autoimmune disorder, the immune system tends to kill the normal or healthy and premature red blood cells of the body by producing specific antibodies named Donath-Landsteiner antibodies. Therefore, it is also called Donath-Landsteiner syndrome. The immune system plays an important role in the defense mechanism of the body that fights against infections or inflammations by producing certain antibodies.
Paroxysmal cold hemoglobinuria can be sudden due the exposure to cold temperatures or paroxysmal exposure, and it can be a chronic disorder; it can be a late manifestation of syphilis and congenital syphilis. Therefore, paroxysmal cold hemoglobinuria is classified as autoimmune hemolytic anemia (AIHA). It is seen in acute onset in children and young adults with a recent history of viral infections. Paroxysmal cold hemoglobinuria refers to three different events; paroxysmal means sudden infection or attacks like seizures causing hemolysis, exposure to the cold temperature causing destruction of red blood cells, and hemoglobinuria refer to the presence of hemoglobin content in the urine.
What Are the Signs and Symptoms of Paroxysmal Cold Hemoglobinuria?
Paroxysmal cold hemoglobinuria may affect children and young adults with different signs and symptoms.
In Children: Paroxysmal cold hemoglobinuria can also be diagnosed in children. It may show up after getting infected with flu-like infections with recurring fever and dark-colored urine, indicating the signs of hemolysis. Dark-colored urine is caused by the presence of a pigment in the red blood cells that helps in the transportation of oxygen called hemoglobin due to the excessive destruction of red blood cells. In addition, jaundice and pallor are seen, with abdominal pain and enlargement of the liver and spleen also observed. In children, other diseases may also lead to paroxysmal cold hemoglobinuria like influenza, upper respiratory infections, chicken pox, mumps, and some vaccinations.
In Young Adults: Paroxysmal cold hemoglobinuria affecting young adults can be acute or chronic in onset. The older studies considered paroxysmal cold hemoglobinuria has chronic onset as it is a late manifestation of syphilis and other viral infections. In the recent event, it is also seen in acute attacks of paroxysmal hemoglobinuria showing symptoms like rigor, chills, and high-grade fever, with excessive destruction of healthy and mature or immature red blood cells causing anemia. Due to anemia there, more clinical manifestations are seen like fatigue, difficulty in breathing, headache, pallor, dizziness, and dark-colored urine. There are some other symptoms associated with paroxysmal cold hemoglobinuria, including pale-colored eyes and mucous membranes, confusion, general discomfort, vomiting, nausea, and a tingling sensation in the hands and feet. When there is exposure to the cold, an individual may experience numbness in the hands, and nose, or itchiness and redness over the skin. Sometimes other internal organs are also affected, like the liver and kidneys.
What Are the Causes of Paroxysmal Cold Hemoglobinuria?
Paroxysmal cold hemoglobinuria is an autoimmune blood disorder that may affect children and adults. In children, it is mainly caused due to some other underlying disease, or it may occur as a symptom due to other infections such as viral or bacterial infections. In children, paroxysmal cold hemoglobinuria can be cured spontaneously with the treatment of the underlying disease.
Generally, autoimmune diseases are caused by the unintentional destruction of healthy and living cells of the body by the production of autoantibodies. These autoantibodies kill the antibodies, which function as a defense mechanism of the body, due to which the body becomes more susceptible to infections and inflammations. In paroxysmal cold hemoglobinuria, there is a production of autoimmune antibodies named Donath-Landsteiner antibodies which are the main reason for causing the disease.
What Is the Pathophysiology of Paroxysmal Cold Hemoglobinuria?
Paroxysmal cold hemoglobinuria is an autoimmune disease involving the production of antibodies and the destruction of normal and healthy cells. Antibodies are specific types of protein produced by the body's immune system. There are different types of antibodies, such as IgA, IgD, IgE, IgG, and IgM which work as a defense against different types of infections.
Paroxysmal cold hemoglobinuria leads to the production of a specific type of antibody called Donath-Landsteiner antibodies. These Donath-Landsteiner antibodies are the type of IgG that primarily affect the P blood group antigen and cause red blood cell destruction.
What Are the Investigations for the Diagnosis of Paroxysmal Cold Hemoglobinuria?
The diagnosis of paroxysmal cold hemoglobinuria can be made by performing the following investigations:
- Physical Examination - It involves recording the patient's medical and personal history. Identification of the signs and symptoms associated with paroxysmal cold hemoglobinuria.
- Complete Blood Count (CBC) - It is advised to check the count of red blood cells for the detection of anemia.
- Urine Test - Urinalysis is done to determine the presence of hemoglobin content in urine.
- Bilirubin Test - In paroxysmal cold hemoglobinuria, bilirubin levels are higher than normal in blood and urine.
- Direct Antiglobulin Test (Coombs Test) - This investigation is advised to detect the presence of antibodies in the blood.
- Lactate Dehydrogenase Test - Lactate dehydrogenase is an enzyme that gets elevated in the blood because of any infection or inflammation.
- Donath-Landsteiner Test - It is an investigation advised for the confirmation of the disease and which also helps to distinguish paroxysmal cold hemoglobinuria from other types of hemolytic anemia.
What Are the Treatment Modalities of Paroxysmal Cold Hemoglobinuria?
The treatment of paroxysmal cold hemoglobinuria is a curable disorder as many times is caused by some other underlying diseases affecting the body's immune system.
- Paroxysmal cold hemoglobinuria can be cured along with the treatment of underlying diseases.
- Avoid the cold temperature.
- Red blood cell transfusion can be administered.
- Other supportive treatments can help in treating paroxysmal cold hemoglobinuria.
Conclusion:
Paroxysmal cold hemoglobinuria is a rare autoimmune disorder involving excessive destruction of red blood cells and the presence of hemoglobin content in urine. It is not a fatal condition, but it can lead to the involvement of other internal organs. Generally, it is caused by other underlying diseases and can be treated with supportive treatment.
