Paroxysmal nocturnal hemoglobinuria [Marchiafava-Micheli]
ICD-10 D59.5 is a billable code used to indicate a diagnosis of paroxysmal nocturnal hemoglobinuria [marchiafava-micheli].
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematologic disorder characterized by the destruction of red blood cells (hemolysis) due to a defect in the cell membrane. This defect is caused by a mutation in the PIGA gene, which leads to a deficiency of glycosylphosphatidylinositol (GPI)-anchored proteins. Patients with PNH experience episodes of hemolysis, particularly during the night, resulting in hemoglobinuria, which is the presence of hemoglobin in the urine. Symptoms may include fatigue, abdominal pain, dark-colored urine, and thrombosis. PNH can occur in isolation or in conjunction with other bone marrow disorders, such as aplastic anemia or myelodysplastic syndromes. The diagnosis is typically confirmed through flow cytometry, which detects the absence of GPI-anchored proteins on the surface of red blood cells. Management may involve supportive care, blood transfusions, and medications such as eculizumab, which targets the complement system to reduce hemolysis. Understanding the genetic basis and pathophysiology of PNH is crucial for effective diagnosis and treatment.
Detailed lab results, genetic testing outcomes, and clinical symptoms.
Diagnosis and management of PNH, treatment planning, and monitoring for complications.
Ensure accurate documentation of hemolytic episodes and associated conditions.
Genetic testing results and family history.
Assessment of genetic mutations and counseling for patients and families.
Document the implications of genetic findings on treatment and prognosis.
Used to evaluate hemolytic anemia symptoms.
Document all lab results and clinical findings.
Hematology specialists should ensure comprehensive lab evaluations.
Common symptoms include fatigue, dark-colored urine, abdominal pain, and episodes of hemolysis, particularly at night.
Diagnosis is typically confirmed through flow cytometry, which detects the absence of GPI-anchored proteins on red blood cells.
Treatment options include supportive care, blood transfusions, and medications like eculizumab that target the complement system.
