|Year : 2018 | Volume
| Issue : 1 | Page : 74-76
Atypical presentation of chronic myeloid leukemia with visual disturbance
Rachana Chennamaneni, Stalin Bala, Sadashivudu Gundeti, Meher Lakshmi
Department of Medical Oncology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
|Date of Web Publication||22-Mar-2018|
Dr. Rachana Chennamaneni
Department of Medical Oncology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana
Source of Support: None, Conflict of Interest: None
Chronic myeloid leukemia (CML) is a clonal hematopoietic disorder characterized by a reciprocal translocation between chromosome 9 and 22 resulting in bcr-abl1 fusion gene. Patients usually present with symptoms of anemia, splenomegaly, and hyperleukocytosis. Initial presentation with visual disturbance, without other symptoms, is rare in CML. No specific treatment has been described for ocular lesions in leukemia. Treating the underlying malignancy would aid in resolution of the symptoms. We report a case of CML presenting with retinal hemorrhages.
Keywords: CML, Visual, TKI
|How to cite this article:|
Chennamaneni R, Bala S, Gundeti S, Lakshmi M. Atypical presentation of chronic myeloid leukemia with visual disturbance. J NTR Univ Health Sci 2018;7:74-6
|How to cite this URL:|
Chennamaneni R, Bala S, Gundeti S, Lakshmi M. Atypical presentation of chronic myeloid leukemia with visual disturbance. J NTR Univ Health Sci [serial online] 2018 [cited 2020 Mar 29];7:74-6. Available from: http://www.jdrntruhs.org/text.asp?2018/7/1/74/228150
| Introduction|| |
Chronic myeloid leukemia (CML) is a clonal hematopoietic disorder characterized by dysregulated production and uncontrolled proliferation of immature and maturing granulocytes. It is characterized by a reciprocal translocation between chromosome 9 and 22 resulting in bcr-abl1 fusion gene. Patients with CML usually present with symptoms of anemia, splenomegaly, and hyperleukocytosis, which include fatigue, left upper quadrant pain, abdominal discomfort, early satiety, and weight loss. Visual changes due to hemorrhages or retinal deposits are rare at presentation in CML without symptoms of hyperviscosity. A patient of CML presenting with retinal hemorrhages despite normal platelet count and rapid improvement with tyrosine kinase therapy is reported.
| Case History|| |
A 33-year-old man, without any comorbidities, presented with complaints of blurring in right eye and low grade fever of 10 days. He did not have a history of other symptoms of hyperviscosity, that is, neurological disturbances or bleeding manifestations. Personal and family history was unremarkable. The visual acuity was 6/60 in the right eye, with normal vision on the left. The anterior chamber was normal. There was intraretinal hemorrhage in the right eye, confirmed by fundoscopy and optical coherence tomography (OCT) [Figure 1] and [Figure 2]. A hemogram showed hemoglobin of 9.4 g/dL, a total leukocyte count of 142,000 cells/cu mm, and a platelet count of 170,000 cells/cu mm. Differential leukocyte count was suggestive of left shift with prominence of myeloid precursors: polymorphs 53%, lymphocytes 7%, eosinophils 16%, basophils 7%, metamyelocytes 6%, myelocytes 8%, promyelocyte 2%, and myeloblasts 1%. He had a splenomegaly of 6 cm below left costal margin. There was no lymphadenopathy or bleeding manifestations. The bone marrow was suggestive of CML chronic phase. Qualitative reverse transcriptase polymerase chain reaction (RT-PCR) for bcr-abl1 translocation showed fusion transcript of b2a2 encoding for major transcript p210 and quantitative RT-PCR showed an International standardisation (IS) ratio of 57.53%. Conventional cytogenetics revealed a karyotype of 46, XY, t (9;22) [Figure 3]. He was classified as Sokal, Hasford, and EUTOS low risk and was started on imatinib 400 mg orally once daily. He attained complete hematological remission after 1 month of imatinib. One month post imatinib, his visual acuity improved to 6/18 in right eye and fundus examination and OCT showed resolving fundal hemorrhages and Roth spots [Figure 4]. At 3 months, bcr-abl quantitative analysis showed 0.1653%. He had complete resolution of visual symptoms at follow-up.
|Figure 1: Fundus images: Background retina shows many central and paracentral flame-shaped hemorrhages, some with a white center (i.e., Roth spots)|
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|Figure 2: OCT showing hyperreflective structures corresponding to intraretinal hemorrhages|
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|Figure 4: Fundus and OCT showing resolving of hemorrhages post TKI therapy|
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| Discussion|| |
CML accounts for 15–20% of leukemias in adults with a median age at presentation of 50 years. Patients with CML will have varied symptoms at presentation ranging from asymptomatic to systemic symptoms such as fatigue, weight loss, abdominal fullness, and bleeding episodes due to platelet dysfunction. Ocular manifestations at presentation in patients with leukemia vary from 9 to 77.8%, but at the time of diagnosis only 5–10% patients with CML present with visual disturbances.,
Ophthalmic involvement in leukemias can be classified into two major categories: (1) primary or direct leukemic infiltration and (2) secondary or indirect involvement. Direct leukemic infiltration has three patterns of presentation: anterior segment uveal infiltration, orbital infiltration, and neuro-ophthalmic signs such as optic nerve infiltration, cranial nerve palsies, and papilledema. Secondary or indirect involvement is usually the result of hematological abnormalities of leukemia such as anemia, hyperviscosity, thrombocytopenia, and immunosuppression. All these can lead to retinal or vitreous hemorrhage, infections, and vascular occlusions.
Macular lesions with optic nerve involvement in CML have been reported. In contrast, the present case had only intraretinal hemorrhages, despite normal platelet counts, without optic nerve involvement. Flame-shaped hemorrhages and Roth spots were seen in the present case without any signs of retinal vein or artery occlusion.
In various studies, ocular manifestations were observed more frequently in acute leukemia than chronic, myeloid more than lymphoid and in adults more than children., In a study by Koshy et al., of the eight patients with primary ophthalmic leukemia, seven (87.5%) patients had acute myeloid leukemia, while one (12.5%) had CML.
Other causes of retinal hemorrhages such as arteriosclerosis, hypertensive, or diabetic retinopathy, retinal artery or vein occlusion, chorioretinitis, HIV, toxoplasma, and systemic lupus erythematosus should be considered in all cases. An abnormal blood picture mandates evaluation for hematological disorders.
The present case had an early diagnosis and management before other signs and symptoms of CML such as massive splenomegaly could manifest. This patient had complete resolution of his ocular symptoms with resolving intraretinal hemorrhages after usage of imatinib for 3 months.
Though the survival of patients with CML was inferior in pre tyrosine kinase inhibitors (TKI) era, with the advent of imatinib and other bcr-abl TKIs, survival rates have dramatically improved with improvement in quality of life. In patients with acute or chronic leukemia, compared to others, patients with ocular involvement had inferior survival (5-year overall survival 45.7% vs 21.4%). However, this does not hold true for patients with CML, in the TKI era, who have a better survival compared to other leukemias.
Hence, a thorough evaluation of patients having ophthalmologic manifestations should be done and any abnormality in complete blood picture should prompt further investigation for hematological disorders. Though no specific treatment has been described for ocular lesions in leukemia, treating the underlying malignancy would aid in resolution of the symptoms.
| Conclusion|| |
Leukemia should be considered as differential diagnosis in patients with retinal hemorrhages. Visual defects, though rare should not be neglected in CML as they can be managed by TKIs without the need for local therapies.
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.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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