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Year : 2021  |  Volume : 1  |  Issue : 4  |  Page : 776-778

Polycythemia rubra vera presenting as a case of papilledema

Department of Ophthalmology, Pondicherry Institute of Medical Sciences, Pondicherry, India

Date of Submission01-Dec-2020
Date of Acceptance29-Apr-2021
Date of Web Publication09-Oct-2021

Correspondence Address:
Dr. Juhy Cherian
Room No. 544, OPD Block, Pondicherry Institute of Medical Sciences Hospital, Pondicherry - 605 014
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_3571_20

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A 42-year-old male presented with complaints of pain in the left hypochondriac region and diffuse headache and gradual painless loss of vision in both eyes. Ocular examination revealed BCVA was 20/40 in the right eye and 20/60 in the left eye and Grade 5 Papilledema noticed in both eyes. Blood investigation revealed polycythemia and positive JAK2 mutation. Primary polycythemia was diagnosed. Immediate treatment with low molecular heparin was initiated, and regular phlebotomies were performed until the hematocrit dropped to 45%. This case reveals, papilledema as an important sign of polycythemia and as a guide to the diagnosis of cerebral venous sinus thrombosis (CVT).

Keywords: Cerebral venous thrombosis, papilledema, polycythemia.

How to cite this article:
Cherian J, Wadwekar B. Polycythemia rubra vera presenting as a case of papilledema. Indian J Ophthalmol Case Rep 2021;1:776-8

How to cite this URL:
Cherian J, Wadwekar B. Polycythemia rubra vera presenting as a case of papilledema. Indian J Ophthalmol Case Rep [serial online] 2021 [cited 2021 Oct 18];1:776-8. Available from: https://www.ijoreports.in/text.asp?2021/1/4/776/327675

Polycythemia refers to an increase in the absolute red blood cell count in the body, reflected by an increase in hemoglobin levels, or hematocrit.[1] The prevalence of polycythemia vera has been estimated to be approximately 22 cases per 100,000 population.[2] The clinical significance of associated risk lies in thrombotic events that follow hyperviscosity of blood.[1] Among the myeloproliferative diseases, Polycythemia vera (PV) and essential thrombocythemia (ET) are associated with an increased risk of thrombotic complications contributing to the mortality and morbidity from the disease.[3]

Ophthalmic manifestations of polycythemia include bilateral papilledema, combined retinal vein occlusion and anterior ischemic optic neuropathy, and rarely central retinal artery occlusion.[2],[3],[4] The literature on ophthalmic manifestations of polycythemia is rare. This is the case report of a patient with polycythemia vera who presented with bilateral papilledema.

  Case Report Top

A 42-year-old male presented to the department of medicine with complaints of pain in the left hypochondriac region for 30 days and a history of diffuse headache and gradual painless loss of vision in both eyes for 20 days. He had no history of associated vomiting, focal weakness, or seizures. He had no known comorbidities and was not a smoker or an alcoholic.

On ocular examination, BCVA was 20/40 in the right eye and 20/60 in the left eye. Slitlamp biomicroscopy was within normal limits and intraocular pressure was 16 mmHg and 18 mmHg in right and left eye respectively with normal direct and indirect pupillary reflexes in both eyes. Fundus examination in both eyes revealed hyperemic swollen disc with blurred margins, superficial hemorrhages over the disc and peripapillary region, venous dilatation and tortuosity, and multiple intraretinal hemorrhages suggestive of Grade 5 Papilledema (Frisen scale) [Figure 1] and [Figure 2]
Figure 1: RE Fundus picture

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Figure 2: LE Fundus picture

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General examination revealed a pulse rate of 90/minute and blood pressure of 130/80 mmHg. Systemic examination revealed a palpable spleen. Cardiovascular system and carotid arterial examination were within normal limits.

Routine blood investigations revealed polycythemia (Hb-18.6 gm%) and peripheral smear revealed closely packed RBCs seen. Predominantly normocytic normochromic with mild anisopoikilocytosis and neutrophilic leucocytosis. MR venography revealed a narrow luminal caliber of left transverse sinus and sigmoid sinus suggestive of thrombosed/hypoplastic sinus [Figure 3]. CECT abdomen showed splenic infarct and endoscopy showed grade 1 esophageal varices suggestive of splenic thrombosis. With a positive JAK2 mutation and associated clinical signs, the diagnosis of primary polycythemia vera was made. Lack of hypoxic events and normal erythropoietin values ruled out secondary polycythemia.
Figure 3: MRVenography

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Treatment with low molecular weight heparin was initiated, and regular phlebotomies were performed until the hematocrit dropped to 45%. Supportive treatment included IV fluids and antiplatelets (Aspirin). The patient was started on anticoagulants (T. Warfarin) and was discharged with the same once hemoglobin was less than 16 gm%. In follow-up visits, Warfarin was stopped because of raised INR, and the patient was started on dabigatran and referred to a higher center for bone marrow transplantation.

  Discussion Top

The term “papilledema” is used for optic disc swelling secondary to raised intracranial pressure (ICP).[5] Intracranial pressure is transported to the optic nerve sheath damaging the axoplasmic transport of the optic nerve. The rapidity with which papilledema develops depends to a large extent on the etiology of the increased ICP.[6]

Causes of papilledema may include, space-occupying lesions, focal or diffuse cerebral edema, blockage of CSF flow (non communicating hydrocephalus), reduction in CSF absorption (meningitis, elevated venous pressure, communicating hydrocephalus), and idiopathic intracranial hypertension.[6] Most of the CSF drainage occurs passively into cerebral venous sinuses. When there is occlusion of one or more venous sinuses, venous pressure rises and CSF is not absorbed resulting in increased ICP.[7]

Patients with PV are prone to both thrombotic and hemorrhagic events which contribute to both morbidity and mortality.[8],[9] The main clinical features of PV and ET are an increased rate of major cardiovascular events (arterial and venous thrombosis), bleeding episodes, microcirculatory symptoms (such as headache, vertigo, dizziness, tinnitus, erythromelalgia, and paresthesia), systemic manifestations (night sweats, bodyweight loss, and fever not related to infections), pruritus (typically aquagenic), and splenomegaly.[10] This patient similarly had multiple systemic thrombotic complications.

Usual ocular manifestations include bilateral papilledema, retinal vein occlusion, anterior ischemic optic neuropathy, and rarely isolated cilioretinal artery occlusion and central retinal artery occlusion.[2],[3],[4],[11] Hyperviscosity associated maculopathy could be an important cause of vision loss in these patients. Transient ocular blindness has been reported in few patients with hyperviscosity syndromes, reducing the hematocrit burden helps to prevent possible permanent ocular ischemia.[12]

Etiologies of obstruction or impairment of cerebral venous drainage include cerebral venous thrombosis (CVT), transverse sinus stenosis, occlusion of the internal jugular vein, and increased venous pressure.[6],[13] Diverse manifestations of this condition cause difficulty in diagnosis. An increased index of suspicion is needed as the symptoms are mostly nonspecific.[14],[17] Headache is one of the most common findings in CVT but is nonspecific, hence ocular findings can assist in making a correct diagnosis as in this case.

Papilledema is seen in 20-30 percent of cases of CVT.[13] The disease manifestations depend on the site of brain involvement and venous sinus involvement. If lateral sinus is involved then symptoms include fever, ear discharge. The main manifestation in the case of superior sagittal sinus involvement is papilledema secondary to raised intracranial tension.[13] In our case there was involvement of transverse sinus and sigmoid sinus and the patient had symptoms of raised ICP. Yadegari et al.[14] conducted a study to find out the ocular associations of CVT, in which papilledema was found to be the most common ocular manifestation (68%). Papilledema associated with polycythemia is common[15],[16] but the occurrence along with features of venous occlusion is rare.

  Conclusion Top

Disc edema due to PV can be caused either by retinal venous occlusion due to hyperviscosity of blood or it can be due to raised ICP following cerebral venous thrombosis. Papilledema, in this case, was due to raised ICP following sinus thrombosis. This case reveals, that papilledema is an important sign in PV and is a guide to the diagnosis of CVT in the patient with no other significant neurologic manifestations.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Pillai AA, Babiker HM. Polycythemia. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2019.  Back to cited text no. 1
Ma X, Vanasse G, Cartmel B, Wang Y, Selinger HA. Prevalence of polycythemia vera and essential thrombocythemia. Am J Hematol 2008;83:359-62.  Back to cited text no. 2
Artoni A, Bucciarelli P, Martinelli I. Cerebral thrombosis and myeloproliferative neoplasms. Curr Neurol Neurosci Rep 2014;14:496.  Back to cited text no. 3
Zuurbier SM, Coutinho JM. Cerebral venous thrombosis. Adv Exp Med Biol 2017;906:183-93.  Back to cited text no. 4
Rigi M, Almarzouqi SJ, Morgan ML, Lee AG. Papilledema: Epidemiology, etiology, and clinical management. Eye Brain 2015;7:47-57.  Back to cited text no. 5
Miller Neil R, Subramanian Prem S, Patel Vivek R. The Essentials: Walsh and Hoyt's Clinical Neuro-ophthalmology. 3rd ed. Philadelphia: Williams and Wilkins; 1999.  Back to cited text no. 6
Behrouzi R, Punter M. Diagnosis and management of cerebral venous thrombosis. Clin Med (Lond) 2018;18:75-9.  Back to cited text no. 7
Rajagopal R, Apte RS. Seeing through thick and through thin: Retinal manifestations of thrombophilic and hyperviscosity syndromes. Surv Ophthalmol 2016;61:236-47.  Back to cited text no. 8
Sharma T, Grewal J, Gupta S, Murray PI. Ophthalmic manifestations of acute leukemias: The ophthalmologist's role. Eye (Lond) 2004;18:663-72.  Back to cited text no. 9
Vannucchi AM, Guglielmelli P. What are the current treatment approaches for patients with polycythemia vera and essential thrombocythemia? Hematol Am Soc Hematol Educ Program 2017;2017:480-8.  Back to cited text no. 10
Elasri F, Souhail H, Reda K, Iferkhass S, Idrissi A, Naoumi A, et al. Isolated cilioretinal artery occlusion as an initial manifestation of polycythemia vera. Middle East Afr J Ophthalmol 2010;17:275-7.  Back to cited text no. 11
[PUBMED]  [Full text]  
Yang HS, Joe SG, Kim J-G, Park SH, Ko HS. Delayed choroidal and retinal blood flow in polycythemia vera patients with transient ocular blindness: A preliminary study with fluorescein angiography. Br J Haematol 2013;161:745-7.  Back to cited text no. 12
Saadatnia M, Pirhaji Z. Factors influencing the incidence of papilledema in patients with cerebral venous thrombosis. Adv Biomed Res 2017;6:165.  Back to cited text no. 13
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Yadegari S, Jafari AK, Ashrafi E. Association of ocular findings and outcome in cerebral venous thrombosis. Oman J Ophthalmol 2017;10:173-6.  Back to cited text no. 14
[PUBMED]  [Full text]  
Shah S, Saxena D. Bilateral papilledema: A case of cerebral venous sinus thrombosis. Oman J Ophthalmol 2014;7:33-4.  Back to cited text no. 15
[PUBMED]  [Full text]  
Parija S, Mohapatra MM, Pattnaik BK. Polycythemia vera presenting with bilateral papilledema: A rare case report. Indian J Ophthalmol Case Rep2008;56:327-9.  Back to cited text no. 16
Lal D, Gujjar AR, Ramachandran N, Obaidi A, Kumar S, El-Tigani M, et al. Spectrum of cerebral venous thrombosis in Oman. Sultan Qaboos Univ Med J 2018;18:e329-37.  Back to cited text no. 17


  [Figure 1], [Figure 2], [Figure 3]


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