Gaisbock’s Syndrome: A Case Study

[Pages:2]88 Journal of The Association of Physicians of India Vol. 69 September 2021

such situations, prompt identification and treatment of TB is of utmost importance. This is not only because of the possibility of disseminated and life threatening spread of TB with immunosuppressive treatment, but also because the autoimmune hematological manifestation can remain refractory unless the underlying TB is cleared.

In this case series, it is obvious that TB did play a role in the pathogenesis of autoimmune hematological abnormalities. The first three patients had a total lack of response to initial lines of immunosuppression. Complete resolution of cytopenias was noted shortly after commencement of ATT followed by additional immunosuppressive therapy. The fourth patient had AIN which resolved promptly with ATT, even before definitive chemotherapy for lymphoma was commenced.

Clinicians should be aware

of this potential association of TB with autoimmune hematological manifestations. A high index of suspicion for underlying TB is warranted in patients with AIHA, ITP, Evans syndrome or AIN especially when the disease remains refractory to conventional immunosuppressive drugs. Investigations such as chest radiograph, mantoux test, biopsy of enlarged lymph nodes, or a TB quantiferon test by ELISA can potentially inform management in such situations.

References

1. Kuo PH, Yang PC, Kuo SS, Luh KT. Severe immune hemolytic anemia in disseminated tuberculosis with response to antituberculosis therapy. Chest 2001; 119:1961?1963.

2. Abba AA, Laajam MA, Al Majid FM. Autoimmune hemolytic anemia associated with intestinal tuberculosis. Ann Saudi Med 2002; 22:68?69.

3. Anoop P. Immune thrombocytopenic purpura: historical perspective, current status, recent advances and future directions. Indian Pediatr 2012; 49:811-818.

4. Chodisetti SB, Rai PK, Gowthaman U, Pahari S, Agrewala JN. Potential T cell epitopes of Mycobacterium tuberculosis that can instigate molecular mimicry against host: implications in autoimmune pathogenesis. BMC Immunol 2012; 13:13.

5. Esaguy N, Aguas AP, van Embden JD, Silva MT. Mycobacteria and human autoimmune disease: direct evidence of cross reactivity between human lactoferrin and the 65-kilodalton protein of tubercle and leprosy bacilli. Infect Immun 1991; 59:1117-1125.

6. Trost B, Kusalik A, Lucchese G, Kanduc D. Bacterial peptides are intensively present throughout the human proteome. Self Nonself 2010; 1:71-74.

7. Cameron SJ. Tuberculosis and the blood ? a special relationship?. Tubercle 1974; 55:55-72.

8. Coburn RJ, England JM, Samson DM, Walford DM, Blowers R, Chanarin I, Levi AJ, Slavin G. Tuberculosis and blood disorders. Br J Haematol 1973; 25:793-799.

9. Whitfield CL. Hematologic abnormalities in tuberculous patients. Arch Intern Med 1970; 126:698.

10. Siribaddana SH, Wijesundera A. Autoimmune haemolytic anaemia responding to antituberculous treatment. Trop Doct 1997; 27:243244.

11. Blanche P, Rigolet A, Massault PP, Bouscary D, Dreyfus F, Sicard D. Autoimmune haemolytic anaemia revealing miliary tuberculosis. J Infect 2000; 40:292.

12. Safe IP, O'brien C, Ferreira FR, Souza ML, Ramaswamy R. Tuberculosis associated with transient hemolytic anemia responsive to tuberculosis chemotherapy: A case report. Braz J Infect Dis 2013; 17:110111.

Gaisbock's Syndrome: A Case Study

Sanjiv Rao1, Mallikarjun Kalashetty2, D Venkateswarlu3

Abstract

A 73-year-old hypertensive was found to have new-onset polycythemia during his routine health check up. A workup revealed no evidence of polycythemia rubra vera or a secondary cause of his polycythemia (his erythropoietin level was normal, he had no splenomegaly, and a test for JAK2 v617F mutation was negative). Over the next year of follow up, his hematological profile returned to normal levels. We conclude that this patient had Gaisbock's syndrome, a relative polycythemia that occurs when there is clinically evident contraction of the intravascular fluid space (plasma volume) in smokers and people who received diuretics.

and a propensity to develop arterial and/or venous thromboses.1-3 We describe the case of an elderly man with hypertension who was found to have new-onset polycythemia during routine health check who was followed for a year and showed resolution. Studies for primary and secondary causes of polycythemia were negative, supporting the diagnosis of Gaisbock's syndrome.

Case Report

Introduction

First described in 1905, Gaisbock's syndrome refers to a symptom complex associated with polycythemia that cannot be attributed to polycythemia rubra vera or to a secondary erythrocytosis that has occurred in response to hypoxemia. Risk factors for the development of Gaisbock's syndrome include male sex, hypertension, smoking, diuretic therapy, obesity, and emotional or physical stress. The polycythemia has been attributed to decreases in

plasma volume, and may be associated with increases in blood viscosity and peripheral vascular resistance

Table 1: Patient's hematologic parameters

On presentation After phlebotomy After 6 weeks of follow up After one year

PCV (mL/dL) 61.7 59.7 49.0 43.5

A 73 year old man was referred to the outpatient department of internal medicine, manipal hospital, Bangalore when he was found to have high RBC count, high hemoglobin and high

Hemoglobin (g/dL) 21.2 20.2 16.5 14.6

RBC count (million/uL) 6.8 6.6 5.6 5.1

1Consultant Physician, Department of Internal Medicine, 2Consultant Hematologist, Department of Hematology, 3Resident (DNB), Department of Internal Medicine, Manipal Hospital, Bangalore, Karnataka Received: 04.11.2018; Accepted: 19.12.2019

89 Journal of The Association of Physicians of India Vol. 69 September 2021

hematocrit in regular health check up. His past medical history was notable for hypertension. He was taking hydrochlorothiazide and telmisartan and was on no other medication. He was a chronic smoker and had no history of sleep apnea.

Physical examination revealed a temperature of 98.6?F, a blood pressure of 110/70 mmhg, a regular pulse rate of 78 beats/minute, a respiratory rate of 19 breaths/minute and a BMI of 26.50 kg/m2. He had glossitis, palmar erythema and his tongue was dark red. He had no lymphadenopathy, and the examination of his heart, lungs and abdomen was unremarkable. His skin turgor was normal.

His complete blood count revealed elevations in his hematocrit (packed cell volume, PCV), hemoglobin, and red blood cell count (Table 1). Other red blood cell parameters (mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration) were within normal limits. His erythropoietin level was normal and testing for a JAK v617F mutation was negative. His vitamin B12 was found to be low (96.6 pg/ml) and serum uric acid was high (8.2 mg/dl). ABG showed hypoxemia with pO2 (33.9 mmhg). Other blood studies, including blood urea nitrogen, creatinine, electrolytes, liver chemistries and thyroid stimulating hormone were within normal limits. An ultrasound abdomen was normal with no evidence of splenomegaly and a chest x-ray was unremarkable. Doppler of renal vessels didn't show any evidence of renal artery stenosis bilaterally. The bone marrow biopsy didn't show the panmyelosis expected in classic polycythemia vera. Therapeutic venesection (400ml) was done. The repeat hematological profile showed reductions in haemoglobin, RBC count and hematocrit. Over the next several weeks, his hematologic parameters incrementally returned to normal (Table 1).

Discussion

Polycythemia is a disease state in which there is increased hemoglobin level (>16.5 g/dL in men or >16.0 g/ dL in women), hematocrit (>49 percent in men or >48 percent in women), or other evidence of increased red cell volume.4 It may occur as a result of

overproduction of red blood cells in the setting of a myeloproliferative disorder, such as polycythemia vera, or in lung diseases and conditions such as sleep apnea that cause sustained or intermittent levels of hypoxemia with consequent increases in erythropoietinmediated erythropoiesis. Our patient had normal erythropoietin, an absence of splenomegaly, and a negative test for a JAK2 V617F mutation, which mediates strongly against a primary or secondary cause of his polycythemia.5,6 Although we were unable to measure his plasma volume and red cell mass, his hematologic and clinical parameters and his course are in keeping with Gaisbock's syndrome, in which the polycythemia is ascribed to a contraction in the plasma volume.1 Our patient had four risk factors for Gaisbock's syndrome - hypertension, male sex, smoking and diuretic therapy; of these, hypertension appears to be the most significant contributor to the polycythemia of Gaisbock's syndrome.2 In this regard, Emamian and associates studied 9,808 individuals with essential hypertension and found that they had spurious elevations in their hematocrits, hemoglobin levels, red cell counts, and mean corpuscular hemoglobin values.7 Their finding is in keeping with the fact that plasma volumes are usually (but not always) decreased in patients with hypertension and that, as a group, hypertensives have low plasma to interstitial fluid volume ratios, indicating that extracellular fluid distribution between the intravascular and interstitial compartments is shifted toward the latter. This shift is thought to be related to altered capillary filtration pressure due to increased venous resistance.8 Patients with a history of Gaisbock's syndrome should be monitored closely for the possibility of recurrence. Messinezy and Pearson found that the PCV returns to normal in one-third of patients with relative polycythemia, in one-third the PCV stays elevated, and in the remaining third the PCV is intermittently elevated.9 Management should include tight control of hypertension, avoidance of diuretic therapy, smoking cessation, and in obese individuals and institution of a vigorous weight loss regimen. Venesection is rarely necessary, but should be considered if PCV levels are sufficiently elevated to

place the patient at risk of thrombotic events (i.e., > 54 mL/dL) or if the patient is experiencing symptoms of cardiovascular ischemia.2,10

Conclusion

We have documented a case of Gaisbock's syndrome in an elderly man with hypertension. His polycythemia resolved over a 6 week period and reached to normal values over a year. Gaisbock's syndrome is best categorized under the heading of a relative polycythemia, components of which are commonly seen in persons with essential hypertension.

This case has been presented for the following reasons:

i. Rarity in presentation. This is the first reported case in India to the best of our knowledge.

ii. This can be confused with polycuthemia rubra vera and smoker's polycythemia and one must be aware of this condition as the treatment regimens are different.

iii. This case was followed for a full year and it showed complete resolution of this condition.

References

1. Stefanini M, Urbas JV, Urbas JE. Gaisbock's syndrome: its hematologic, biochemical and hormonal parameters. Angiology 1978; 29:520-533.

2. Messinezy M, Pearson TC. Apparent polycythaemia: diagnosis, pathogenesis and management. Eur J Haematol 1993; 51:125-131.

3. Biswas M, Prakash PK, Cossburn M, Myers K, Hanna F. Life-threatening thrombotic complications of relative polycythemia. J Intern Med 2003; 253:481-483.

4. Spivak JL, Silver RT. The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis, and primary myelofibrosis: an alternative proposal. Blood 2008; 112:231.

5. Johansson P, Safai-Kutti S, Lindstedt G, Suurk?la M, Kutti J. Red cell mass, spleen size and plasma erythropoietin in polycythaemia vera and apparent polycythaemia. Acta Haematol 2002; 108:1-7.

6. Larsen TS, Pallisgaard N, M?ller MB, Hasselbalch HC. The JAK2 V617F allele burden in essential thrombocytopenia, polycythemia vera and primary myelofibrosis - impact on disease phenotype. Eur J Haematol 2007; 79:508-515.

7. Emamian M, Hasanian SM, Tayefi M, Bijari M, Movahedian Far F, et al. Association of hematocrit with blood pressure and hypertension. J Clin Lab Anal 2017.

8. Tarazi RC. Hemodynamic role of extracellular fluid in hypertension. Circ Res 1976; 38:73-83.

9. Messinezy M, Pearson TC. A retrospective study of apparent and relative polycythemia: associated factors and early outcome. Clin Lab Haematol 1990; 12:121-129.

10. Humphrey PR, Michael J, Pearson TC. Red cell mass, plasma volume and blood volume before and after venesection in relative polycythaemia. Br J Haematol 1980; 46:435-438.

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