Primary myelofibrosis with concurrent paroxysmal nocturnal haemoglobinuria presenting with erectile dysfunction

Abstract

Primary myelofibrosis and paroxysmal nocturnal haemoglobinuria (PNH) are uncommon clonal blood disorders that are rarely found together. We report a case of primary myelofibrosis (PMF) with concomitant subtle PNH in a 42-year-old man who presented with a 4-week history of fatigue, unexplained chest pain, and new-onset erectile dysfunction. Bone marrow biopsy showed severe fibrosis consistent with PMF. However, smooth muscle dystonia symptoms in the form of new-onset erectile dysfunction and oesophageal spasm were not fully explained by PMF but were clues for PNH, confirmed by flow cytometric assays. Routine PNH testing for patients with new-onset PMF and clinical symptoms suggestive of PNH, as well as those with refractory anaemia despite effective therapy, is crucial since these two conditions can coexist. As a result, a lack of early testing may cause a delay in diagnosis, increasing the patient’s transfusion load and the facility’s costs.

Paroxysmal Nocturnal Hemoglobinuria and Primary Myelofibrosis as an Extremely Rare Combination of Clonal Hematological Diseases: A Literature Review and Two Clinical Case Reports

“…В 2022 г. в Великобритании опубликована статья, в которой обсуждался пациент с анемией (гемоглобин -60 г/л), симптомами гладкомышечной дистонии в виде спазмов пищевода и эректильной дисфункции, отсутствием лабораторных признаков гемолиза. В результате комплексного обследования диагностировано одновременно два заболевания: ПМФ и ПНГ [32].…”

Haemolytic paroxysmal nocturnal haemoglobinuria in patients with myeloid neoplasms: A rare association with specific therapeutic implications

“…9 Conversely, concurrent or secondary diagnosis of haemolytic PNH in patients with MN is extremely rare 1 and is confined to case reports in patients with myeloproliferative neoplasms (MPN). [10][11][12] The purpose of the present work was to describe the disease characteristics and clinical course of patients with a concurrent diagnosis of PNH and MN, without evidence of pre-existing PNH.…”