Pulmonary thromboendarterectomy in a case of hereditary stomatocytosis

Abstract

We present a case of pulmonary thromboendarterectomy performed successfully in a patient with stomatocytosis. Stomatocytosis is a rare condition of abnormal erythrocyte morphology in which haemolysis and hyperkalaemia occur at cooler temperatures. A 35-yr-old male with stomatocytosis was referred for pulmonary thromboendarterectomy in the context of chronic thromboembolic pulmonary hypertension. He had undergone splenectomy as a child, which rendered him hypercoagulable as the spleen normally removes the haemolysed red cell fragments from blood. By constantly monitoring urine for macroscopic haematuria, arterial and mixed venous blood gas analysis perioperatively and by limiting the period of deep hypothermic circulatory arrest that is normally required for this operation, we were able to perform the operation successfully.

A novel hemoglobin-binding peptide reduces cell-free hemoglobin in murine hemolytic anemia

“…Indeed, intravascular hemolysis has been linked to pulmonary hypertension (19,24,26,45,59), systemic vasculopathies (27,28,50,52,53,60), and cardiovascular complications (11,25,30,39). Although such studies have suggested that CF-Hb likely plays important roles in vascular disease, the actual contribution of CF-Hb to disease pathology has drawn controversy, particularly in sickle cell disease (SCD) (9,18).…”

Pulmonary Hypertension in Hemolytic Disorders

“…15,20 In addition, a similar prevalence of PH in patients with thalassemia who do not develop acute chest syndrome suggests that lung injury may worsen PH but certainly is not etiologic. Chronic thromboembolic PH has been reported in patients with hereditary spherocytosis and stomatocytosis 43,[47][48][49] and appears to occur in approximately 5% of patients with SCD and severe PH. 16 PH and two (2%) of 83 patients without PH died during a 2-year follow-up period.…”

Hemolytic Anemia Associated Pulmonary Hypertension

“…4 These mechanisms ultimately can produce a systemic proliferative vasculopathy, a hallmark of which is pulmonary hypertension that develops during adulthood. In support of the role of hemolysis as an important contributing mechanism in this disorder, PAH is an increasingly recognized complication of chronic hereditary and acquired hemolytic anemias including sickle cell disease, [5][6][7][8][9][10][11][12][13][14][15] thalassemia, [16][17][18][19][20][21][22][23][24][25] paroxysmal nocturnal haemoglobinuria, 26,27 hereditary spherocytosis and stomatocytosis, [28][29][30][31][32][33] microangiopathic hemolytic anemias, [34][35][36][37][38][39][40] pyruvate kinase deficiency, 41 and possibly malaria. 42,43 Additionally, certain other conditions are associated with both intravascular hemolysis and risk of pulmonary hypertension, such as schistosomiasis, 44,45 and iatrogenic hemolysis from mechanical heart valves, 46,47 left v...…”

“…18,20,22 Although there are no formal epidemiologic data on the prevalence of PAH in other hemolytic disorders, several case series of PAH have been reported in patients with other inherited or acquired hemolytic disorders. [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][44][45][46][47][48][49][50][51][52] Of note, a number of studies suggest that PAH may be more common in patients with thalassemia intermedia and E thalassemia than in patients with thalassemia major. This observation emphasizes the importance of chronic hemolysis in PAH pathogenesis, because patients with thalassemia major are transfused repeatedly and have minimal intravascular hemolysis 125 .…”

“…[97][98][99] Pulmonary thromboembolism is reported in patients with sickle cell disease, 98 thalassemia, 100 pyruvate kinase deficiency, 41 hereditary spherocytosis, 28,30 paroxysmal nocturnal hemoglobinuria, 27,101 and hereditary stomatocytosis. 29,31,32 However, differentiation between in situ and embolic thrombosis is not always explicit in these reports. Autopsy studies in patients with sickle cell disease suggest that much of the observed thrombosis is in situ, similar to what occurs in other forms PAH.…”