Paroxysmal nocturnal hemoglobinuria (PNH)

 

Overview

PNH is a rare disease in which the body’s red blood cells are prematurely destroyed. PNH is an acquired, not inherited, hematopoietic stem cell disorder, caused by mutation of the PIGA gene which causes defective blood cells to multiply. This abundance of defective cells interferes with the functioning of normal cells, and leads to their destruction. 

Common Symptoms

Darker urine, erectile dysfunction/male impotence, severe bone marrow dysfunction, blood clots, acute and chronic renal (kidney) disease, rapid heart beat, chest pains, difficulty breathing when exercising, difficulty swallowing (dysphagia), painful abdominal contractions, esophageal spasms, fatigue, and headaches.

Coexisting Diseases and Conditions

Hemoglobinuria, thromboses, thrombocytopenia, bone marrow dysfunction, pancytopenia, leukemia (rarely), Budd-Chiari syndrome, refractory anemia, aplastic anemia, and myelodysplastic syndrome.

Risk Factors and Prevalence

Females are believed to be affected at slightly higher rates. While the disease can impact someone of any age, the median age is 30-40.

Sources

  1. Article Sources and Footnotes

    1. Paroxysmal Nocturnal Hemoglobinuria. (n.d.-a). NORD (National Organization for Rare Disorders). Retrieved June 12, 2021, from https://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/

    2. Paroxysmal nocturnal hemoglobinuria: MedlinePlus Genetics. (n.d.-b). Retrieved June 12, 2021, from https://medlineplus.gov/genetics/condition/paroxysmal-nocturnal-hemoglobinuria/

    3. PNH – Paroxysmal Nocturnal Hemoglobinuria. (n.d.). Aplastic Anemia & MDS International Foundation. Retrieved June 12, 2021, from https://www.aamds.org/diseases/pnh

    4. Shah, N., & Bhatt, H. (2021). Paroxysmal Nocturnal Hemoglobinuria. In StatPearls. StatPearls Publishing. http://www.ncbi.nlm.nih.gov/books/NBK562292/