Kidney Week

Abstract: TH-PO094

AKI as the Initial Presentation of Polycythemia Vera with von Willebrand Disease in a Young Adult

Session Information

• AKI: Clinical, Outcomes, and Trials - Epidemiology and Pathophysiology
  October 24, 2024 | Location: Exhibit Hall, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Acute Kidney Injury

• 102 AKI: Clinical, Outcomes, and Trials

Authors

• Bechuate, Mayara Lopes, Nephrology, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil

Mayara Lopes Bechuate

• Diniz, Renan Gomes Mendes, Nephrology, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil

Renan Gomes Mendes Diniz, MD

• Lutf, Luciana Gil, Nephrology, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil

Luciana Gil Lutf, MD

• Cunha, Milena Vizioli, Nephrology, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil

Milena Vizioli Cunha, MD

• Ledesma, Felipe Lourenco, Pathology, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil

Felipe Lourenco Ledesma

• Sales, Gabriel Teixeira Montezuma, Nephrology, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil

Gabriel Teixeira Montezuma Sales, MD

• Andrade, Lucia, Nephrology, University of Sao Paulo School of Medicine, São Paulo, SP, Brazil

Lucia Andrade, MD, PhD

Introduction

Polycythemia vera (PV) is a rare myeloid neoplasm that commonly affects individuals over 60 years of age, and 97% of cases are accompanied by a JAK2 mutation. Thrombosis and leukemia are common in PV. Renal manifestations (typically podocyte injury, IgA nephropathy or CKD) are rare, as is thrombotic microangiopathy (TMA). Here, we report a case of acute kidney injury (AKI) secondary to malignant hypertension and TMA, with subsequent diagnoses of PV and acquired von Willebrand disease (VWD).

Case Description

A 22-year-old male presented with altered mental status, nausea, vomiting and severely elevated blood pressure (BP, 220/130 mmHg). Labs showed hemoglobin of 18.4 mg/dL, hematocrit of 55%, 600,000 platelets, serum creatinine (SCr) of 3.74 mg/dL, proteinuria (2.2 g/g), no hematuria and no serum markers of hemolysis. Tests for secondary hypertension were negative. The hypertension resolved after treatment with a titrated intravenous vasodilator and oral antihypertensives. Hematologic investigation revealed a JAK2 V617F mutation, and bone marrow biopsy findings were consistent with PV. The von Willebrand factor (VWF) level was normal, although the VWF activity was very low. A diagnosis of PV with acquired VWD was made. After treatment with hydroxyurea, VWF activity increased and percutaneous renal biopsy showed diffuse mesangiolysis with focal segmental scarring in the glomeruli, moderate interstitial fibrosis and vascular intimal proliferation with narrowing of the lumina and arterial hyalinosis, consistent with reparative changes in TMA. Treatment with hydroxyurea was continued, and the patient remained under outpatient care, with a sustained SCr of 2.6 mg/dL (eGFR 35 ml/min/1.73 m²) and BP of 123/64 mmHg.

Discussion

To our knowledge, this is the first report of a young patient with PV and VWD in whom the initial presentation was AKI due to malignant hypertension and TMA.

Figure 1: Findings consistent with reparative changes in TMA