Paroxysmal nocturnal hemoglobinuria is a rare acquired disease where red blood cells break down prematurely, causing concentrations of hemoglobin to appear in the urine. This condition can be diagnosed with the assistance of blood tests to check for the presence of certain proteins in the blood and there are a number of treatment options available. Patients may need to see a specialist in bleeding disorders to receive the highest level of care, and can benefit from going to clinics specializing in the management of anemia and related conditions.
In patients with paroxysmal nocturnal hemoglobinuria, one of the warning signs can be dark urine in the morning. This is the result of concentration of urine occurring overnight, rather than a change in the breakdown of red blood cells while the patient is sleeping, as was originally believed. Other patients may not experience dark urine in the morning or have episodic dark urine showing up at different times during the day. Anemia is a common symptom, because patients produce deficient levels of red blood cells and the cells break down too quickly.
Blood clots can also be linked with paroxysmal nocturnal hemoglobinuria. These clots can present serious medical complications if they occlude important blood vessels. In patients with clotting problems, doctors may recommend the use of blood thinners to break up clots and reduce the risk of events like strokes and pulmonary thrombosis. Supplements of minerals like iron can be helpful in the management of anemia and some patients benefit from steroid therapy.
In some patients with this form of hemolytic anemia, the eventual treatment will be bone marrow transplant, using bone marrow from a healthy donor with a good match to the patient. Patients with severe paroxysmal nocturnal hemoglobinuria can be at risk of an escalating series of complications. Replacing their bone marrow will remove the defective cells and allow the patient to start producing healthy red blood cells that should not break down too soon. This treatment option may be explored and discussed after diagnosis so patients can start preparing for the possibility.
Numerous disorders beyond paroxysmal nocturnal hemoglobinuria can lead to hemolysis, dark urine, and anemia. Doctors are careful to perform a thorough battery of diagnostic tests to make sure they are not missing a diagnosis. Failing to identify the cause of medical issues involving the blood can have serious consequences, as the approach to treatment can vary and it is important to make sure appropriate treatments are provided to patients. A doctor will usually request bloodwork, along with other diagnostic tests to explore possible causes and develop a correct diagnosis.