Essential thrombocythemia presenting as localized hemorrhage and mucosal necrosis of transverse colon: A case report

Abstract

BACKGROUND

Most patients with essential thrombocythemia (ET) are asymptomatic. Symptomatic patients predominantly present with elevated platelet counts, microcirculatory disturbances, and thrombosis. Cases manifesting with gastrointestinal bleeding, even if complicated by colonic congestion, edema, and mucosal necrosis, are extremely rare. Patients with gastrointestinal bleeding or peritonitis usually require surgery. This report highlights timely surgery in managing ET-related acute abdomen.

CASE SUMMARY

A 60-year-old female presented with abdominal pain and hematochezia, accompanied by peritoneal irritation signs, leukocytosis, thrombocytosis, and transverse colon hemorrhage/edema/congestion. With progressive aggravation of peritonitis and no obvious reduction in inflammatory markers were observed after conservative treatment. Contrast-enhanced computed tomography showed transverse colon edema, distension, segmental colonic wall thickening, and luminal stenosis. Emergency transverse colectomy was performed; pathology revealed vascular abnormalities and mucosal necrosis. Peritonitis improved with a sustained decline in inflammatory markers after operation. ET was confirmed by JAK2 V617F mutation, and the patient achieved a good recovery following hydroxyurea treatment and follow-up.

CONCLUSION

For patients with gastrointestinal bleeding and peritonitis, timely identification and surgical intervention are critical for definitive treatment of ET.

Key Words: Essential thrombocythemia; JAK2 V617F mutation; Gastrointestinal bleeding; Peritonitis; Emergency surgery; Colonic lesions; Case report

Core Tip: Most patients with essential thrombocythemia (ET) are asymptomatic, and colonic hemorrhage, edema and mucosal necrosis are extremely rare. We report a 60-year-old female presenting with abdominal pain, hematochezia and peritonitis, who underwent emergency colectomy. After operation, peritonitis improved with a sustained decline in inflammatory markers. ET was confirmed by JAK2 V617F mutation, and the patient had a good recovery after hydroxyurea treatment and follow-up. Timely surgical intervention is critical in treatment of ET with acute abdomen.

INTRODUCTION

Essential thrombocythemia (ET) is a Philadelphia chromosomenegative myeloproliferative neoplasm characterized by clonal platelet hyperproliferation, presenting a paradoxical phenotype of concurrent thrombosis and hemorrhage[1-3]. The JAK2 V617F mutation is a key driver, causing vascular endothelial injury, platelet dysfunction, and acquired von Willebrand syndrome[4,5]. The JAK2 V617F mutation drives hemorrhage in ET through three integrated mechanisms: (1) Vascular injury, where constitutive Janus kinase-signal transducer and activator of transcription activation upregulates vascular endothelial growth factor and inflammatory cytokines, generating fragile and malformed microvessels; (2) Platelet dysfunction, where platelets display impaired aggregation, granule release, and calcium mobilization despite severe thrombocytosis; and (3) Acquired von Willebrand syndrome, where high shear stress in abnormal microvessels promotes excessive a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13-mediated cleavage of von Willebrand factor (vWF), depleting high-molecular-weight vWF multimers and resulting in functional vWF deficiency. Collectively, these hemostatic defects contribute to bleeding diathesis in ET. Most ET patients are asymptomatic; symptomatic cases mainly exhibit thrombocytosis, microcirculatory disturbances, and thrombotic events. A large cohort study of 528 patients with ET reported an overall annual bleeding incidence of only 1.85% and a major bleeding incidence of only 0.95%, indicating that bleeding events are relatively rare[6]. Cases presenting with gastrointestinal bleeding as the first manifestation, complicated by colonic congestion, edema, and mucosal necrosis, are extremely rare[7].

Untreated ET carries high perioperative risks of bleeding and thrombosis[8-10]. For patients presenting with acute abdomen, gastrointestinal bleeding, and peritonitis, after excluding other life-threatening gastrointestinal diseases, timely emergency surgery to control peritonitis and intestinal bleeding and resect the involved bowel segment is essential for subsequent ET diagnosis and targeted therapy[11-13]. We here report a 60 years old female with ET presenting as acute abdomen, hematochezia, and transverse colonic congestion with mucosal necrosis, accompanied by marked leukocytosis and thrombocytosis. Emergency transverse colectomy was performed. JAK2 V617F testing confirmed ET, and she recovered well after hydroxyurea treatment. This case highlights the suspect of ET in acute abdomen patients with hematologic abnormalities and underscores the critical role of emergency surgery in enabling definitive ET therapy by managing local complications.

CASE PRESENTATION

Chief complaints

A 60-year-old female patient complained of intermittent symptoms of abdominal pain and hematochezia for 2 days.

History of present illness

Two days before admission, the patient experienced abrupt-onset small-volume red hematochezia, accompanied by intermittent dull periumbilical pain and nausea. No abdominal distension, fatigue, palpitations, chest distress, or dizziness were noted. She subsequently had several episodes of bloody stools (about 2 times daily, 30-40 mL per episode). After receiving hemostatic treatment and fluid resuscitation at a local hospital, her stool color changed to dark brown. She was then transferred to our hospital for further treatment. Admission laboratory tests (performed on March 12, 2015) revealed marked leukocytosis (white blood cell count 21.87 × 10⁹/L, neutrophil percentage 93.8%) and a normal hemoglobin level (153 g/L). She was admitted with a diagnosis of acute gastrointestinal bleeding. Her general condition, appetite, and sleep remained satisfactory, with no significant changes in body weight or physical strength.

History of past illness

The patient had a 2-year history of hypertension, with a peak blood pressure of 21.33/13.33 kPa, which was well-controlled on oral reserpine. She also had a 1-year history of duodenal ulcers and nephrolithiasis. Fifteen years before presentation, she underwent surgery for tongue leukoplakia. Further details of the procedure were unavailable.

Personal and family history

The patient had no history of smoking or alcohol consumption, and there was no family history of gastrointestinal bleeding.

Physical examination

Abdominal examination revealed periumbilical tenderness with rebound tenderness and decreased bowel sounds. These signs worsened progressively. No other positive abdominal findings were noted.

Laboratory examinations

Laboratory tests revealed a normal hemoglobin level, leukocytosis (white blood cell count 24.97 × 10⁹/L), and thrombocytosis (platelet count 622 × 10⁹/L) (Figure 1). Postoperative detection of the JAK2 V617F mutation confirmed ET.

Figure 1 Serial changes of core hematological parameters during follow-up. Hb: Hemoglobin; WBC: White blood cell count; Neutrophil: Neutrophil percentage; PLT: Platelet count.

Imaging examinations

Contrast-enhanced computed tomography showed portal hypertension, splenomegaly, tortuous splenic hilar veins, transverse colon hemorrhage, edema, distension, segmental colonic wall thickening, and luminal stenosis (Figure 2A and B, orange arrows). Emergency laparotomy was performed for peritonitis and bleeding, revealing a 25-cm dark red, congested mid-transverse colon with clear demarcation (Figure 2C, orange arrows). Transverse colectomy with proximal colostomy was undertaken. Histopathological examination showed marked vascular congestion, hemorrhage, mucosal necrosis, submucosal edema, vascular proliferation, thick-walled vessels, focal hemangioma-like hyperplasia, and no obvious intraluminal thrombi (Figure 2D).

Figure 2 Imaging, intraoperative and histopathological findings. A: Contrast-enhanced abdominal computed tomography revealed portal hypertension, splenomegaly, tortuous venous clusters at the splenic hilum, and hemorrhage and edema of the transverse colon (orange arrows); B: Computed tomography revealed marked thickening and narrowing of the transverse colon compared with adjacent bowel loops (orange arrow); C: Intraoperative examination revealed a dark red transverse colon, with a subserosal hematoma-like change and clear demarcation from the non-congested colon (orange arrows); D: Histopathological analysis (hematoxylin and eosin stain) showed marked vascular congestion with hemorrhage, few intraluminal thrombi, focal mucosal necrosis and shedding, marked submucosal edema with vascular proliferation, thick-walled vessels, and focal angioma-like hyperplasia (orange arrows).

FINAL DIAGNOSIS

The diagnosis of ET was established based on postoperative detection of the JAK2 V617F mutation, along with the patient’s medical history, clinical manifestations, and imaging findings.

TREATMENT

Peritoneal signs worsened significantly after admission. Emergency laparotomy was performed to control peritonitis and bleeding. Given the pathological appearance of the affected colon, transverse colectomy was performed, followed by closure of the distal colonic stump and construction of a proximal end colostomy. On postoperative day 5, the fecal occult blood test was negative, while the platelet count remained elevated at 637 × 10⁹/L. The patient recovered satisfactorily following oral hydroxyurea therapy.

OUTCOME AND FOLLOW-UP

One month postoperatively, laboratory examination showed that the platelet count had returned to normal (275.0 × 10⁹/L). Eight months after the initial surgery, the patient was readmitted for colostomy reversal and had an uneventful postoperative recovery. Follow-up examinations confirmed normal platelet count and related laboratory parameters.

DISCUSSION

Most patients with ET are asymptomatic. Symptomatic patients predominantly present with elevated platelet counts, microcirculatory disturbances, and thrombosis[6]. Cases manifesting as gastrointestinal bleeding, even complicated by colonic congestion, edema, and mucosal necrosis, are extremely rare[7]. A previous study reported an ET patient presenting with gastrointestinal hemorrhage and small intestinal perforation who received combined surgical and endoscopic therapy[14]. In that case, portal vein thrombosis induced portal hypertension, which contributed to esophagogastric variceal bleeding and ascites, while small intestinal perforation stemmed from intestinal ischemia secondary to mesenteric thrombosis. In contrast, despite the presence of portal hypertension in our patient, no definite thrombosis was identified on imaging or pathological examination; instead, pathological examination predominantly demonstrated abnormal vascular proliferation. This finding further validates the high shear stress mechanism underlying JAK2 V617F mutation-associated hemorrhage in ET[5]. Current first-line therapeutic agents for ET include hydroxyurea, interferon, and aspirin, while novel drugs such as ruxolitinib are still under clinical investigation. The core therapeutic goals for ET are to reduce vascular event risks, control myeloproliferation, relieve clinical symptoms, and manage disease-related complications[15,16]. However, for patients who develop life-threatening hemorrhage complicated with peritonitis prior to standard medical intervention, pharmacological therapy alone is inadequate to treat such critical acute abdominal conditions.

Colonic lesions, including congestion, edema and necrosis, frequently precipitate intra-abdominal infection, which may subsequently progress to uncontrolled septic shock. Severe intra-abdominal infection is associated with prolonged treatment courses, substantial economic burden, exacerbated patient distress, and increased mortality risk. Early surgical debridement can eliminate intra-abdominal infectious foci and is therefore critical for halting progressive abdominal infection[17,18].

For patients with gastrointestinal bleeding, prompt recognition of imaging features of colonic congestion and necrosis, together with clinical signs of peritonitis, is crucial. Timely surgical intervention should be undertaken after excluding other life-threatening gastrointestinal disorders[19,20]. Surgical control of bleeding and intra-abdominal infection secondary to colonic lesions lays a solid foundation for the subsequent definitive treatment of ET.

CONCLUSION

ET often presents insidiously, with thrombosis or microcirculatory disorders as predominant features, making early definitive diagnosis difficult in patients with acute gastrointestinal bleeding and peritonitis. In this case, emergency laparotomy was performed due to progressive peritoneal signs and abnormal imaging findings. Resection of the affected colon prevented further congestion, hemorrhage, and deterioration. Prompt surgery provided valuable time for definitive ET diagnosis and hydroxyurea initiation. Colonic hemorrhage, congestion, and necrosis secondary to ET are rare. Timely surgical intervention is critical to stabilize the patient and enable subsequent targeted therapy.