Diagnostic Dilemmas in Paroxysmal Nocturnal Hemoglobinuria

Kumar, Rajat; Dutta, Shyamali; Kumar, Harsh; Lazar, A I; Sashindran, V K

doi:10.1016/s0377-1237(17)31033-x

Cited by 2 publications

(5 citation statements)

References 9 publications

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“…Our patient has dilated cardiomegaly which was similarly found in one of the cases of PNH in India [1]. The cardiomegaly in PNH can be attributed to recurrent anemia as well as iron deficiency caused by hemoglobinuria [8, 9].…”

Section: Discussionsupporting

confidence: 60%

“…It took 12 years for our patient to be diagnosed with PNH, which is a little bit longer compared to the cases reported from Asia [1]. This is probably due to the lack of awareness of the disease and diagnostic capabilities in our setting and sub-Saharan Africa in general.…”

Section: Discussionmentioning

confidence: 86%

“…Paroxysmal nocturnal hemoglobinuria is one of the very rare causes of direct antiglobulin test-negative hemolytic anemia which is often underdiagnosed. It is an acquired hematopoietic stem cells disorder characterized by a variety of clinical features ranging from episodes of hemolysis and its associated symptoms, abdominal pain, erectile dysfunction, and thrombotic events to the renal insufficiency and pulmonary hypertension [1]. The reported incidence of PNH was only about 5 cases per million inhabitants per year [2]; however, it is associated with high morbidity and mortality [1].…”

Section: Introductionmentioning

confidence: 99%

“…It is an acquired hematopoietic stem cells disorder characterized by a variety of clinical features ranging from episodes of hemolysis and its associated symptoms, abdominal pain, erectile dysfunction, and thrombotic events to the renal insufficiency and pulmonary hypertension [1]. The reported incidence of PNH was only about 5 cases per million inhabitants per year [2]; however, it is associated with high morbidity and mortality [1]. Currently, there are only 1,610 patients with confirmed PNH in the International PNH Registry in which variable features of the disease are being studied [3].…”

Section: Introductionmentioning

confidence: 99%

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Diagnostic and Treatment Challenges of Paroxysmal Nocturnal Hemoglobinuria in Uganda

Lumori

Muyanja

2019

Case Reports in Hematology

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Introduction. Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare disorder of the hematopoietic stem cells which is often underdiagnosed. Its incidence is about 5 cases per million inhabitants in a year, and currently, there are only 1610 patients in the International PNH Registry. In this report, we describe a case of PNH in southwestern Uganda. Case Presentation. A 34-year-old man, subsistence farmer, with a history of multiple prior presentations with anemia, jaundice, and dark-colored urine requiring blood transfusions presented to us again in July 2018 with a week’s history of palpitations, dizziness, and dark-colored urine. Investigations done suggested a direct antiglobulin test- (DAT-) negative hemolytic anemia, and subsequently, flow cytometry showed a large clone of PNH. He received many blood transfusions and hematinics on several occasions during the course of his admissions. Conclusions. Our report showed diagnostic and treatment challenges of PNH in health resource-limited setting.

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Section: Discussionsupporting

confidence: 60%

Section: Discussionmentioning

confidence: 86%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Diagnostic and Treatment Challenges of Paroxysmal Nocturnal Hemoglobinuria in Uganda

Lumori

Muyanja

2019

Case Reports in Hematology

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“…Due to the rarity of this entity, it is misdiagnosed often with hematuria, iron deficiency, hemolytic, megaloblastic or refractory anemia, and myelodysplastic syndromes [ 11 ]. As an example, Yin et al reported a case of PNH which was misdiagnosed and treated as iron deficiency anemia for three years [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

A Rare and Misdiagnosed Entity Paroxysmal Nocturnal Hemoglobinuria: A Case Report

Pokhrel¹,

Gautam²,

Khanal³

et al. 2021

Cureus

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Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired stem cell disorder manifesting as non-immunological hemolytic anemia, hemoglobinuria, unusual thrombosis, and renal impairment due to deficiency of glycosylphosphatidylinositol (GPI) linked proteins in red blood cells. Patients present with features of chronic non-immune intravascular hemolysis, unexplained anemia, and thrombosis at unusual sites. It is often misdiagnosed and treated as anemia due to a low degree of suspicion. In resource-limited settings, the low degree of suspicion and paucity of investigations are the major diagnostic challenges. The even bigger challenge remains in the affordability of definitive treatment after a diagnosis has been made. Herein, we present a case of PNH in a 26-year man from rural Nepal who went undetected during the initial presentation of hemolytic anemia and later presented to us with hemolytic anemia and gastrointestinal symptoms. We made the provisional diagnosis based on the clinical presentations. However, we faced challenges in reaching the final diagnosis and providing the definitive treatment due to financial constraints and limited resources. Any patient presenting with features of chronic non-immune intravascular hemolysis, unexplained anemia, and unusual thrombosis should prompt the consideration of PNH.

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Diagnostic Dilemmas in Paroxysmal Nocturnal Hemoglobinuria

Cited by 2 publications

References 9 publications

Diagnostic and Treatment Challenges of Paroxysmal Nocturnal Hemoglobinuria in Uganda

Diagnostic and Treatment Challenges of Paroxysmal Nocturnal Hemoglobinuria in Uganda

A Rare and Misdiagnosed Entity Paroxysmal Nocturnal Hemoglobinuria: A Case Report

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