Medicina: 1 case of pancytopenia with aplastic anemia/paroxysmal nocturnal hemoglobinuria undetected due to SARS-CoV-2 infection: case report

During an acute SARS-CoV-2 infection, a 78-year-old woman presents to the emergency department with severe pancytopenia and is diagnosed with aplastic anemia with episodic nocturnal hemoglobinuria (AA/PNH).

The woman was admitted to the emergency department (6.
4 g/dL Hb) after severe anemia was found with a past medical history including: chronic kidney disease, hypertension, hypercholesterolemia and genital cancer
.
The patient was not vaccinated against SARS-CoV-2
.
Physical examination: clear, responsive, unconscious at rest, pale skin and mucous membranes, no dyskinesia
.
Blood pressure is 140/80 mmHg, heart rate is 74 bpm, SpO2 is 99%, and the Glasgow Coma Scale score with heat is 15
.
Chest examination showed normal breath sounds in both lungs, soft abdomen, no tenderness, and no mass
.
There is no peripheral edema
.

Patients may have subclinical AA/PNH, which is detected during acute COVID-19 infection, but a direct role of the virus in disease pathogenesis can also be suspected, or it can be assumed that COVID-19 infection alters the phosphatidinositol glycan class A (PIGA) gene pathway
.

PNH is an acquired hematologic disorder caused by mutations in the PIGA gene present on the X chromosome and associated with aplastic anemia and myelodysplastic syndromes (as in the case presented) PNH is characterized by leukopenia, thrombocytopenia, and low reticulocyte count, with a tendency to
bleeding and infection.
Early diagnosis is essential
for timely intervention and avoidance of clinical complications associated with the disease.
Treatment of PNH should consider two main clinical manifestations: (1) hemolytic PNH without significant bone marrow failure and (2) PNH
with moderate/severe aplastic anemia or bone marrow failure.

This case report is the first isolated case of pancytopenia among cases of aplastic anemia/PNH during acute COVID-19 infection in Italy
.
Researchers cannot determine whether COVID-19 infection extends an already existing subclinical PIGA gene mutation, just as the possibility that SARS-CoV-2 infection and the occurrence of AA/PNH manifestations are coincidental cannot be ruled out
.
PNH is a rare condition, but the detection of pancytopenia, particularly SARS-CoV-2 infection, during viral infection should increase clinical suspicion of aplastic anemia associated with PNH cloning, requiring immediate flow cytometry
.
In addition, these patients require clinical and laboratory monitoring because, although rare, they sometimes present with hemolytic or thrombotic manifestations
due to PNH clonal amplification.

Original source:

Iannuzzi A, Parrella A, De Ritis F, Cammarota A, Berloco L, Paudice F, D'Angelo G, Aliberti E, Iannuzzo G.
Pancytopenia in a Case of Aplastic Anaemia/Paroxysmal Nocturnal Haemoglobinuria Unmasked by SARS-CoV-2 Infection: A Case Report.
Medicina (Kaunas).
2022 Sep 15; 58(9):1282.
doi: 10.
3390/medicina58091282.
PMID: 36143962; PMCID: PMC9503064.