Gaisbock's Syndrome: A Case Study

Abstract

A 57-year-old hypertensive, obese woman presented with several weeks of a febrile flu-like illness, facial and extremity flushing, and laboratory findings of polycythemia. A workup revealed no evidence of polycythemia rubra vera or a secondary cause of her polycythemia (her erythropoietin level was normal, she had no splenomegaly, and a test for JAK2 v617F mutation was negative). Over the next two weeks, her fever subsided, and her hematological profile returned to normal, pre-illness 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). KeywordsPolycythemia, Hypertension, Plasma volume, Packed cell volume, Venesection, Erythromelalgia resolved over a two-week period as she recovered from her illness. Studies for primary and secondary causes of polycythemia were negative, supporting the diagnosis of Gaisbock's syndrome. Case ReportThe patient, a 57-year-old Caucasian woman, was seen because of a two-week history of fever and a flu-like illness. Her illness began with mild upper airway symptoms (coryza, sore throat), accompanied by myalgias, arthralgias, malaise, fatigue, and anorexia followed by an intermittent non-productive cough and exacerbation of her migraine headaches. She also noted the occurrence of flushing of her face and swelling and flushing of the soles of her feet. Her past medical history was notable for hypertension, a multinodular thyroid, and mild IgM deficiency. She was taking hydrochlorothiazide and triamterene for her hypertension, but was on no other medications. She was a non-smoker, had no history of sleep apnea, and kept herself well hydrated during the illness. Her husband had experienced a flu-like illness 2-3 weeks earlier, and she had recently been immunized to influenza, but the vaccine did not cover 40% of the prevalent strains.Physical examination revealed a temperature of 102 °F, a blood pressure of 138/100, a regular pulse of 74 beats/minute, a respiratory rate of 14 breaths/minute, and a BMI of 41. Facial flushing, which increased in the recumbent position, was present, and the soles of both feet had increased warmth, diaphoresis, and erythema characteristic of erythromelalgia (Figure 1). Her oropharynx was mildly injected without exudates. She had no adenopathy, and the examination of her heart, lungs, and abdomen was unremarkable. Her skin turgor was normal. CASE STUDY

Erythrocytosis in the general population: clinical characteristics and association with clonal hematopoiesis

“…A reduction in plasma volume, which can cause relative erythrocytosis, may be present in individuals with hypovolemia (eg, induced by the use of diuretics) or in individuals with Gäisbock's syndrome, which is classically described as erythrocytosis in tense/anxious individuals with hypertension and obesity as risk factors. 30,31 Therefore, as sensitivity analysis, we repeated the analyses in individuals without use of diuretics (ATC code C03) and without metabolic syndrome (defined according to the revised criteria of the National Cholesterol Education Program's Adult Treatment Panel III. 32,33 Odds ratios (ORs) and hazard ratios (HRs) are reported with 95% confidence interval (CI).…”

Gaisbock Syndrome: A Review of Contemporary Studies, Pathogenesis, Complications, and Possible Treatment

“…A case report published in 2017 highlighted the use of various antihypertensive agents in the treatment of a 57-year-old white woman with a history of obesity and hypertension controlled with hydrochlorothiazide. 35 This patient presented with a febrile "flulike" illness, facial and extremity flushing, and erythrocytosis (hematocrit 48%, hemoglobin 16.6 gm/dL, RBC count 5.6 million/ µL). She had a negative JAK2 v617F mutation, no splenomegaly, and normal EPO, leukocyte alkaline phosphatase, and vitamin B12 levels.…”