Paroxysmal cold hemoglobinuria

Other Names: PCH; Hemoglobinuria paroxysmal cold Paroxysmal cold hemoglobinuria (PCH) is a rare blood disorder in which the body's immune system produces antibodies that destroy red blood cells. It occurs when the person is exposed to cold temperatures.

Epidemiology

PCH is thought to account for at most 2-10% of cases of AIHA, whose annual incidence is estimated to be between 1/35,000-1/80,000 in North America and Western Europe.

Cause

PCH only occurs in the cold, and affects mainly the hands and feet. Antibodies attach (bind) to red blood cells. This allows other proteins in the blood (called complement) to also latch on. The antibodies destroy the red blood cells as they move through the body. As the cells are destroyed, hemoglobin, the part of red blood cells that carries oxygen, is released into the blood and passed in the urine.

PCH has been linked to secondary syphilis, tertiary syphilis, and other viral or bacterial infections. Sometimes the cause is unknown.

Signs and symptoms

Acute cases almost exclusively affect children and are often preceded by symptoms of infection. Chronic idiopathic cases also occur but are extremely rare. Acute cases of the disease are characterized by an abrupt onset with features of severe intravascular hemolysis including high fever, chills, back and/or leg pain. Other symptoms may include nausea, headache, vomiting and diarrhea. Typically hemoglobinuria occurs, producing dark red to black urine. Hemolysis can be severe and even life-threatening and results from exposure to cold, which may even be localized (eg from drinking cold water, from washing hands in cold water). Chronic forms of PCH are characterized by recurrent episodes of hemolysis precipitated by cold exposure.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal urinary color(Abnormal urinary colour)
• Arthralgia(Joint pain)
• Autoimmune hemolytic anemia
• Back pain
• Coombs-positive hemolytic anemia
• Fever
• Headache(Headaches)
• Hemoglobinuria(Hemoglobin in urine)
• Recurrent respiratory infections(Frequent respiratory infections)

5%-29% of people have these symptoms

• Diarrhea(Watery stool)
• Nausea and vomiting

Diagnosis

Laboratory tests can help diagnose this condition.

• Bilirubin levels are high in blood and urine.
• Complete blood count (CBC) shows anemia.
• Coombs test is negative.
• Donath-Landsteiner test is positive.
• Lactate dehydrogenase level is high.

Differential diagnosis The main differential diagnosis is acute cold AIHA (see this term) induced by an infection (for example Mycoplasma pneumoniae or the Epstein Barr virus) due to the presence of IgM autoantibodies which are cold agglutinins.

Treatment

Most cases of PCH are self-limited so treatment is usually symptomatic, including keeping the patient warm and red blood cell transfusion if necessary. Patients with few clinical symptoms and slight anemia may not require drug therapy. Corticosteroids and splenectomy are usually ineffective and should not be considered. In cases of life-threatening PCH, plasmapheresis can temporarily dampen the hemolysis. Some patients may respond to rituximab, although responses are usually short-lived. If syphilis is present, treatment with antibiotics generally eliminates the concurrent hemolysis.

Prognosis

People with this disease often get better quickly and do not have symptoms between episodes. In most cases, the attacks end as soon as the damaged cells stop moving through the body.

Possible Complications Complications may include:

• Continued attacks
• Kidney failure
• Severe anemia

NIH genetic and rare disease info

• NIH info on Paroxysmal cold hemoglobinuria

Paroxysmal cold hemoglobinuria is a rare disease.

Paroxysmal cold hemoglobinuria Resources
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