| Case Presentation | No. 16-2019 | A 42-year-old female presented with asymptomatic massive splenomegaly Abed Hussain Khan, Esrat Khan Lubna, Mohammad Ferdous Ur Rahaman, Mahbubur Rahman, Farzana Rahman and Naila Atik Khan Article Info Presentation of Case Hemolytic anemia Evaluating the features of anemia, jaundice, Department of Internal Medicine, Facul- Dr. Esrat Khan Lubna (MD Resident): A 42-year- ty of Medicine, Bangabandhu Sheikh old female hailing from Brahmanbaria, Bangla- splenomegaly, low hemoglobin, raised reticulo- Mujib Medical University, Shahbag, cytes and unconjugated hyperbilirubinemia the Dhaka, Bangladesh (AHK, EKL, MFUR, desh was admitted with the complaints of possibility of hemolytic anemia was the first MR); Department of Hematology, Facul- abdominal pain which was more marked in the ty of Medicine, Bangabandhu Sheikh left upper abdomen. Fifteen days before admi- diagnosis to be considered. Hemolytic anemia Mujib Medical University, Shahbag, ssion in this department, she had a history of is classified as inherited and acquired. Dhaka, Bangladesh (FR); Department of Biochemistry and Molecular Biology, physical assault, since then she was experien- Inherited red cell abnormalities resulting in Faculty of Basic Science and Paraclinical cing pain over different parts of her body chronic hemolytic anemia which may result Science, Bangabandhu Sheikh Mujib including abdomen. She took analgesic for this from pathologies of red cell membrane. There Medical University, Shahbag, Dhaka, pain. Other regional pain subsided but the Bangladesh (NAK) may be membrane defects (hereditary sphero- abdominal pain was persisting. The abdominal cytosis, hereditary elliptocytosis), hemoglobino- For Correspondence: pain was constant, dull aching and nonradia- pathies (thalassemia, sickle cell anemia) or Mohammad Ferdous Ur Rahaman ting. There was no aggravating or relieving enzyme defect (G6PD deficiency). [email protected] factor. For the complaint of abdominal pain, she Hereditary spherocytosis is a rare inherited red visited to a local physician. During physical blood cell membrane disorder that is charac- examination, the consulting physician noticed Received: 15 October 2019 terized by spherically shaped red blood cell on Accepted: 28 November 2019 splenomegaly. Then she was referred to this the peripheral blood film.2-4 Several reports and Available Online: 25 December 2019 department for further evaluation of spleno- text books have associated a triad of anemia, megaly. jaundice, splenomegaly to the morphological ISSN: 2224-7750 (Online) On examination, she was afebrile, moderately findings of spherocytes as the hall mark of 2074-2908 (Print) anemic and mildly icteric. Abdominal examina- diagnosis.2-5 It is an autosomal dominant condi- DOI: 10.3329/bsmmuj.v12i4.43523 tion revealed that the spleen was 10 cm from tion which has a wide variety of presentation the left costal margin along the anterior axillary ranging from asymptomatic compensated chro- line towards the right iliac fossa. Other systemic nic hemolytic state to fulminant hemolytic Keywords: Hairy cell leukemia; Hemo- examination was unremarkable. state.6 lytic anemia; Lymphoma; Spleen Laboratory data showed hemoglobin was low Points in favor of H. spherocytosis in this patient: Cite this article: and red cell distribution width and mean Khan AH, Lubna EK, Rahaman MFU, a) Asymptomatic massive splenomegaly, b) Rahman M, Rahman F, Khan NA. A 42- corpuscular hemoglobin concentration were moderate anemia, c) mild jaundice and d) year-old female presented with asymp- high on four occasions (Table I). Peripheral marked reticulocytosis. tomatic massive splenomegaly. Banga- blood film showed normocytic normochromic bandhu Sheikh Mujib Med Univ J. 2019; anemia on three occasions. The reticulocyte Points against H. spherocytosis: a) Peripheral 12: 211-216. blood film- normocytic normochromic anemia count was high (7.7%). Indirect bilirubin was slightly raised (1.7 g/dL). Coomb’s test was and b) normal lactate dehydrogenase. Copyright: normal. The ultrasonography revealed spleno- Other abnormalities of red blood cell mem- The copyright of this article is retained megaly (17.2 cm) (Figure 1). The endoscopy of by the author(s) [Atribution CC-By 4.0] brane: As the incidence of hereditary ellipto- upper gastrointestinal tract was normal. The cytosis and G6PD deficiency is much lower in serum IgM was normal. this subcontinent and in these cases patients Available at: usually have mild splenomegaly (not massive www.banglajol.info splenomegaly) and in the peripheral blood film Provisional Diagnosis there should be some specific features. These two diseases (hereditary elliptocytosis and Hemolytic anemia G6PD deficiency) were excluded from the differential diagnoses. Differential Diagnosis Hemoglobinopathies During discussion, the following differential In thalassemia major, decreased beta chain syn- diagnoses were considered.1 thesis results in excess free alpha chains, 212 BSMMU J 2019; 12: 211-216 Table I Laboratory investigations 1/9/2018 9/9/2018 References Hemoglobin (g/dL) 9.3 9.0 15 ± 2 (male); 13.5 ± 1.3 (female) Erythrocyte sedimentation rate (mm in 1st hour) 20 05 0-10 Total white blood cells (×109/L) 6.5 4.5 7 ± 3 Total platelet count (×109/L) 180 150 150-400 Total red blood cells (×1012/L) 6.0 3.1 5 ± 0.5 (male); 4.3 ± 0.5 (female) Neutrophils (%) 57 61 50-70 Lymphocytes (%) 35 31 20-40 Mean corpuscular volume (fL) 85 85 92 ± 9 Mean corpuscular hemoglobin (pg) 29 29 29 .5 ± 0.5 Mean corpuscular hemoglobin concentration (g/dL) 36 34 33 ± 1.5 Red cell distribution width (%) 23 24 12.8 ± 1.2 Serum bilirubin (total) (mg/dL) 2.1 0.2-1.2 Serum bilirubin (direct) (mg/dL) 0.4 <0.3 Lactate dehydrogenase (IU/L) 142 208-378 Reticulocyte count (%) 7.7 <2 Coombs’ test (direct and indirect) Negative Serum immunoglobulin M level (mg/dL) 98 40-230 mia, microcytic hypochromic anemia, target cells and raised hemoglobin A2 fraction. Sickle cell anemia is a hemoglobin disorder resul- ting from the inheritance of the sickle beta globin gene. The patient may present with vaso-occlusive crisis. Visceral sequestration crisis which is caused by sickling within organs. splenic sequestration is typically seen in infants and presents with enlarging spleen and falling hemoglobin. There may be aplas- tic crisis or hemolytic crisis.10 In this case (asymptomatic splenomegaly having moderate anemia with mild jaundice), hemoglobi- nopathies like thalassemia could be a good possi- bility. However, hemoglobinopathies with huge splenomegaly patients should have previous his- tory of blood transfusion which was absent in this case. Moreover, there was no microcytic hypochro- mic anemia in peripheral blood film and no target cell or sickle cell as well. Hemoglobin electrophore- sis was also normal. So, hemoglobinopathies (thala- ssemia, sickle cell anemia) were also excluded as Figure 1: Ultrasonography of whole abdomen well from the differential diagnosis. resulting in elevated hemoglobin F or hemoglobin Acquired hemolytic anemia 7 A2. Free alpha chains also form insoluble tetramers Acquired hemolytic anemia causes include auto and that precipitate within the red blood cell causing alloantibody-mediated destruction of red blood 8 increased fragility and cell death. Patients of beta- cells and other mechanical, toxic and infective thalassemia often present as severe microcytic ane- causes.11 mia with signs of cardiac dysfunction, pallor, jaun- dice, hepatosplenomegaly and growth failure.9 Autoimmune hemolytic anemia In beta-thalassemia minor, patients have mild ane- Considering the clinical features and some investi- BSMMU J 2019; 12: 211-216 213 gations, the autoimmune hemolytic anemia was one Chronic liver disease with portal hypertension of the possibilities. Points in favor of autoimmune Massive splenomegaly is one of the important cau- hemolytic anemia: a) splenomegaly, b) middle aged ses of chronic liver disease with portal hyperten- female and c) features of hemolysis. sion. But in this patient, there was no other feature Points against: a) Coombs’ test was negative, b) nu- of chronic liver disease with portal hypertension. cleated red blood cell and spherocytes were absent Moreover, the ultrasonography of the liver archi- in the peripheral blood film and c) no history of tecture is normal. But non-cirrhotic portal hyperten- significant drug intake or features of systemic lupus sion could be a possibility.20 In non-cirrhotic portal erythematosus, rheumatoid arthritis or any infec- hypertension, lesion is generally vascular, present tion. in the portal vein, or its branches in the peri- sinusoidal area of the liver. It is a disease of young Hairy cell leukemia to middle age.21 In non-cirrhotic portal hypertension Hairy cell leukemia is an uncommon chronic beta- duration of symptoms at presentation varies from 22 cell lymphoproliferative disease. The median age of 15 days to 18 years. Hypersplenism may remain presentation is approximately 55 years, with a male asymptomatic. Bleeding from the non-gastro- 23 predominance of 4:1.12 Symptoms include abdomi- intestinal sites is reported to be about 20%. Ascites nal fullness, fatigue, weakness, weight loss and develops in 10-34% patients of non-cirrhotic portal bruising. Approximately a quarter of patients pre- hypertension. Esophageal varices are seen in 80-90% 24 sent with abdominal discomfort and fullness due to patients. splenomegaly which can be massive. In a study of Points in favor of non-cirrhotic portal hypertension 71 cases of hairy