BY GURDEEP SINGH NAGI, MD; BHAVINI TAILOR, MD; & AHMED RAZIUDDIN, MD
A 40-year-old man with no significant past medical history presented to the emergency department with visual problems. He said he had noticed about four days earlier a dark red circle over any object on which he tried to focus. The condition had been constant and had not improved or worsened over the past few days. He also said it did not matter whether he was focusing on an object that was near or far.
The patient had seen an optometrist who recommended he have blood work done, but did not specify what exactly to test. He was unsure of what to do and decided to come to the emergency department. He also complained of general body aches and pains for several weeks. He denied any trauma to the eyes or head. The patient also revealed that he had been bleeding from the gums for a few weeks, and had a bloody nose prior to that. He denied fever, chills, nausea, diarrhea, constipation, chest pain, shortness of breath, abdominal pain, and blood in the urine or stool.
The patient's past medical history was unremarkable except for a case of cellulitis on his face, for which he was treated with cephalexin and sulfamethoxazole-trimethoprim. He had no other surgeries or allergies. Family history included breast cancer in his mother. The patient smoked every day, drank occasionally, and did not use any recreational drugs.
The patient appeared pale, and was anxious and in mild acute distress. He was alert and oriented to person, place, and time. His vitals included a blood pressure of 121/75 mm Hg, pulse rate of 88 bpm, respiratory rate of 18 bpm, temperature of 98.3°F, and an oxygen saturation of 99% on room air. His pupils are equal, round, and reactive to light and accommodation, and he has normal extraocular movements without diplopia or entrapment and with grossly normal peripheral vision.
The patient's cranial nerves II-XII are intact, he displayed no motor deficits, and reflexes were normal and equal in all four extremities. The patient had a regular rate and rhythm on cardiac exam, with trace pitting lower extremity edema. His breath sounds were clear bilaterally, and he had no chest wall tenderness on palpation and no acute respiratory distress. An ECG demonstrated a normal sinus rhythm with right axis deviation and nonspecific ST abnormality. PA and lateral chest x-rays were unremarkable.
The patient's laboratory data are listed in the table. He was typed and cross-matched to receive a blood transfusion. With 3% blast cells, hematology and oncology was consulted, and the decision was made to admit the patient onto the telemetry floor for further workup.
The oncologist recommended a bone marrow biopsy, which was done the day after his admission. The results showed 95% immature blast cells with no evidence of Auer rods. Images of the peripheral blood smear and bone marrow biopsies are shown. The final results showed that the patient had acute T-cell lymphocytic leukemia as well as low vitamin B and folate levels. The patient was transferred to another hospital for treatment.
Peripheral blood smear and bone marrow biopsies.
Acute Lymphoblastic Leukemia
Our patient's presentation was unique in that his initial complaint was ocular due to intraretinal hemorrhages. Other cases where this presentation occurred tend to be a recurrence; this includes intraretinal hemorrhages or infiltration of the Tenon's capsule (Int Ophthalmol 2014;34:639), retina (Tumori 2016;102[Suppl 2]:128), and optic nerve (J Neuroophthalmol 1994;14:81; Clin Exp Ophthalmol 2012;40:e114) by the leukemic cells.
Typically, acute lymphoblastic leukemia (ALL) is more common in children and adolescents, with a slight increase in incidence in men. (J Clin Invest 2012;122:3398.) T-cell ALL (T-ALL) accounts for only 25 percent of all ALL cases in adults. (New Engl J Med 2004;350:1535.) T-ALL does not have a typical presentation, but its symptoms tend to start suddenly and be present for only a short period. They often consist of a combination of manifestations of anemia, thrombocytopenia, and neutropenia. (Richard Larson, John Anastasi. “Acute Lymphoblastic Leukemia: Clinical Presentation, Diagnosis, and Classification” in Acute Leukemias, ed. W Hiddemann, et al. [New York, Springer, 1992], 109.)
Some possible symptoms for anemia can be pallor, such as in our patient, fatigue, or if severe, a new heart murmur. Thrombocytopenia may present with spontaneous bleeds and bruising, and despite a high white blood cell count, patients tend to have a more neutropenic picture because they are more prone to contracting infections. Patients may also present with constitutional symptoms such as fever, unintended weight loss, and night sweats. (Richard Larson, John Anastasi. “Acute Lymphoblastic Leukemia: Clinical Presentation, Diagnosis, and Classification” in Acute Leukemias, ed. W Hiddemann, et al. [New York, Springer, 1992], 109.)
Patients may be found to have lymphadenopathy, splenomegaly, and hepatomegaly, but there may be leukemic invasion anywhere in the body. They may even present with bone and joint problems such as arthritis, osteopenia, or lytic lesions in the bones. (Acta Haematol 1999;101:1.) Specifically, for T-ALL, patients can present with enlargement of the mediastinum or focal CNS findings. (J Clin Invest 2012;122:3398.) The patient's peripheral blood smear will show lymphoblastosis, as it did with our patient, where the blast percentage was 3%. In other cases, there may be lymph erythroblastosis or even granulocyte dysplasia. (Richard Larson, John Anastasi. “Acute Lymphoblastic Leukemia: Clinical Presentation, Diagnosis, and Classification” in Acute Leukemias, ed. W Hiddemann, et al. [New York, Springer, 1992], 109.)
Adults with ALL have a poorer prognosis than children, but treatments are constantly being developed. Current treatments consist of immunomodulators, chemotherapy, or both. Chemotherapy is classically done with a combination of vincristine, prednisone, anthracycline, and cyclophosphamide with or without L-asparaginase. Therapy is administered over four to six weeks until remission is attained. After the initial induction chemotherapy, patients may be put on daunorubicin and cytosine arabinoside for consolidation therapy, which may increase survival by up to 38 percent for three years. (Semin Oncol 1987;14[2 Suppl 1]:64.) Patients may also be placed on a four-drug regimen over 12 months as maintenance therapy to increase survival. (Br J Haematol 1996;92:665.) Additionally, depending on the markers exhibited by the lymphoblasts, immunomodulators may also be a treatment option with the possibility of fewer side effects than traditional chemotherapeutic agents. Finally, a bone marrow or a stem cell transplant may also be considered in patients in remission, depending on age.
Dr. Nagi is an EMT and recent graduate from Windsor University School of Medicine in St. Kitts. Dr. Tailor is a graduate from the University of Medicine and Health Sciences in St. Kitts. Dr. Raziuddin is an internist and emergency physician at Weiss Memorial Hospital, Gottlieb Memorial Hospital, and Westlake Hospital, all in Illinois. (Clockwise from top left.)