Paroxysmal Nocturnal Hemoglobinuria
Description
Introduction
A uncommon acquired clonal haematopoietic stem cell disease is called paroxysmal nocturnal haemoglobinuria (PNH).
caused by a mutation in the PIG-A gene, which results in a lack of GPI-anchored proteins (CD55 and CD59) and makes cells vulnerable to complement-mediated lysis.
characterised by bone marrow failure (BMF), thrombosis, and haemolysis.
Prevalence: around 1 to 1.5 cases per million worldwide; Asia has a greater frequency than Western nations.
Highlights of the Case:
Patient: a man, age 28.
History: anaemia, thrombocytopenia, COVID-19 with AKI, recurring kidney stones, and months of black urine.
Present symptoms include anaemia, dark urine, nausea, vomiting, jaundice, and renal failure.
Workup: CBC: elevated RDW, thrombocytopenia, and anaemia (Hb 8.6).
CMP: indirect hyperbilirubinemia (6.9) and elevated creatinine (2.7 → 7.8).
Coombs test results are negative.
high LDH (>1000).
RBCs, pigmented casts, and dark urine.
Ultrasound: characteristics of CKD.
Large PNH clone: neutrophils (72%), monocytes (75%), and red blood cells (15%), according to flow cytometry.
Treatment:
hemodialysis, blood transfusion, eculizumab started, meningococcal vaccine + penicillin prophylaxis.
Result: clinically better, released with follow-up.
PNH Symptoms and Signs:
Fatigue, jaundice, dark cola-colored urine (particularly in the morning), and anaemia are all signs of haemolysis.
Venous thrombosis, which affects the mesenteric, cerebral, and hepatic veins.
Hemoglobinuric nephropathy → AKI/CKD is the renal involvement.
Other: headache, dysphagia, erectile dysfunction in men, dyspnoea, and stomach discomfort.
Diagnosis
Haemolysis, cytopenia, and thrombosis are the three clinical suspicions.
Laboratory tests: CBC: thrombocytopenia, leukopenia, and anaemia.
Haemolysis profile: reticulocytosis, haptoglobin, indirect bilirubin, and LDH.
Test for Coombs: negative.
The gold standard for detecting GPI-deficient cells is flow cytometry, which uses FLAER with CD55 and CD59 antibodies.
To exclude out MDS overlap or aplastic anaemia, a bone marrow biopsy is performed.
PIG-A mutation genetic test (confirmatory but not required).
Examining This Case
reticulocyte count, CMP, and CBC.
Liver enzymes, bilirubin, and LDH.
Analysis of urine: haemoglobinuria.
Ultrasound: alterations in CKD.
PNH clone validated by flow cytometry.
Treatment Supportive: Blood transfusion for severe anemia.
For renal failure, haemodialysis is used.
Pneumococcal, meningococcal, and H. influenzae vaccinations.
Antibiotics for prevention (penicillin).
Targeted therapy: Eculizumab (anti-C5 mAb): reduces intravascular hemolysis, transfusion need, thrombosis risk.
Long-acting C5 inhibitor Ravulizumab: easy 8-weekly dosage.
The C3 inhibitor pegcetacoplan regulates extravascular haemolysis.
Other medications undergoing studies include factor D/B inhibitors, pozelimab + cemdisiran, and crovalimab.
Definitive therapy: Allogeneic bone marrow transplant (HSCT): only curative option; reserved for severe BMF/aplastic anemia overlap.
Prognosis Before eculizumab: median survival ~10 years.
Many people have a near-normal life expectancy of more than 20 years when using C5 inhibitors.
There are still risks of thrombosis, breakthrough haemolysis, and the development of MDS or aplastic anaemia.
Key Learning Points
PNH should be suspected in cases that don't make sense. Hemoglobin-deficient Coombs-negative haemolytic anaemia
The gold standard is flow cytometry (CD55/CD59/FLAER).
In the field of management, complement inhibitors such as pegcetacoplan, ravulizumab, and eculizumab are revolutionary.
Equally crucial is supportive care, which includes dialysis, transfusions, vaccinations, and antibiotics.
Death, thrombosis, or renal failure can result from a delayed diagnosis.
Protocol
Problems Faced by PNH Renal Involvement Patients
The following problems are frequently encountered by patients with PNH and renal complications:
Haemolytic anaemia resulting in weakness, pallor, and exhaustion.
Haemoglobinuria causes dark urine, which is frequently most noticeable in the morning.
Hemoglobin-induced tubular damage increases the risk of both acute kidney injury and chronic renal failure.
complications from thrombosis, especially in the veins of the kidneys or other uncommon places.
increased vulnerability to infections as a result of immunodeficiency.
Acute pain from renal colic or hemolysis episodes.
Nursing Interventions:
Techniques for Management
In order to effectively manage patients with PNH and renal involvement, comprehensive nursing interventions are needed.
Haemolytic Fatigue and Anaemia
To identify and stop hypoxia, routinely check vital signs and oxygen saturation.
To encourage erythropoiesis, maintain a well-balanced diet high in vitamins and iron.
As directed, give transfusions and anaemia prescription drugs while keeping an eye out for transfusion reactions.
Renal Complications
Regularly measure intake and output to keep an eye out for indications of renal impairment or recovery.
Unless it is contraindicated by heart failure or fluid overload, teach patients the value of staying hydrated to avoid additional renal injury.
Track urine, BUN, and serum creatinine levels to quickly detect and report any changes in renal function.
Haemoglobinuria and Associated Conditions
Encourage preventative measures against hemoglobin-induced nephrotoxicity, such as hydration and potential urine alkalinisation.
Patients should be told to report any changes in the frequency, colour, or volume of their urine.
Keep an eye out for signs of renal colic and use pain management techniques in accordance with the guidelines.
Prevention and Management of Thrombosis
Early patient mobilisation lowers the risk of thrombosis and venous stasis.
Keep an eye out for symptoms of thrombosis, such as discomfort, swelling, or changes in limb colour.
As directed, take anticoagulants, and keep an eye out for bleeding patterns.
Control of Infections
Encourage immunocompromised patients to practise good hand hygiene and infection prevention techniques.
Keep an eye out for infection symptoms, such as fever, chills, and localised symptoms, and report them right once.
As directed, provide antibiotics and other preventative treatments.
Patient Support and Education
To assist patients in managing the chronic nature of PNH, offer them psychological assistance.
Inform patients on prescription schedules, potential adverse effects, and when to get medical attention.
Encourage the cooperation of haematology, nephrology, and nursing in multidisciplinary care for the best results.
Notes
For more details visit 10.7759/cureus.63917
