Assessing the Frequency and Impact of Autoimmune Diseases With Hematological Disorders

Two abstracts presented at the European Hematology Association's annual meeting evaluated the frequency of myeloid malignancies in patients with autoimmune disease and the impact autoimmune diseases have on patients with sickle cell disease.

Having a prior history of autoimmune disease (AD) is significantly associated with a higher risk of myeloproliferative neoplasms (MPNs). In an abstract presented at the European Hematology Association annual meeting, researchers investigated the frequency of myeloid malignancies in patients with ADs. They also sought to evaluate the influence of these malignancies on the clinical course of ADs.1

Researchers at the University of Pisa in Italy identified 55 patients in a retrospective systematic search through the electronic health records of patients between 2009 and 2019 with ADs and myeloid malignancies. Twenty (36%) patients had AD with myelodysplastic syndrome (MDS) and 35 (64%) had AD with MPNs.

In the group of patients with MPNs, 12 (34%) patients had chronic myeloid leukemia, 9 (26%) had myelofibrosis (MF), 8 (23%) had essential thrombocythemia (ET), and 6 (17%) had polycythemia vera (PV). In the MDS group, the most common diagnosis was anemia (16 patients, 80%).

In half of the patients with MDS, MDS occurred concurrently with the diagnosis of ADs, while MPNs generally preceded the diagnosis of ADs (19/35). The most common ADs among the MDS group were seronegative arthritis (25%), large and small vessel vasculitis (20%), and systemic lupus erythematosus (15%). In the MPN group, patients with MF were often associated with rheumatoid arthritis (22%) and antiphospholipid syndrome (33%), but patients with ET were more frequently detected to have anti-Ro52 (TRIM21)—positive systemic connective tissue disorders (50%).

Overall, cardiovascular events were observed in 14 of the 55 patients (26%), and cardiovascular events were present in all patients with the JAK2 V617F mutation. This mutation was detected in 100%, 57%, and 66% of patients with PV, ET, and MF, respectively.

“Our study shows that the frequency of MDS and MPNs in ADs is not negligible and might be considered in the assessment of cardiovascular risk in systemic autoimmunity,” the authors concluded.

A second abstract evaluated the additional complications associated with ADs in patients with sickle cell disease (SCD).2 These researchers identified 40 patients enrolled in the Sickle Cell Disease Implementation Consortium who had AD. These patients with comorbid AD were slightly older than the average age of the remaining individuals in the registry (31 years vs 27.8 years).

Patients with SCD and AD had more frequent severe SCD complications compared with the patients in the registry with SCD alone. They also had greater incidence of the following conditions compared with patients with SCD alone:

  • Chronic kidney disease (27.5% vs 8.2%; P = .0030)
  • End-stage renal disease (5% vs 0.9%; P = .06)
  • Avascular necrosis (42.5% vs 27.2%; P = .03)
  • Pulmonary hypertension (27.5% vs 12.2%; P = .01)
  • Stroke (27.5% vs 16.7%; P = .07)

“These findings suggest these patients may require more medical management and may be at high rate of early mortality than those without [AD],” the authors concluded.


1. Galimberti S, Baratè C, Ricci F, et al. Clinical and biological features distinguish myeloid diseases from myeloid disorders associated with autoimmune diseases. Presented at: EHA25 2020; June 11-21, 2020; Abstract EP1076.

2. Kanter J, King A, Preiss L, Gordeuk V. Autoimmune disease is associated with greater risk of co-morbidity among teens and adults in the Sickle Cell Disease Implementation Consortium. Presented at: EHA25 2020; June 11-21, 2020; Abstract EP1529.

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