Thalassemia with bronze Diabetes
Case Presentation
A 20-year-old male with β-thalassemia major, known since early childhood and maintained on regular blood transfusions, presented to the emergency department with complaints of altered mental status, abdominal pain, vomiting, and rapid, deep breathing for the past 24 hours. His family reported long-standing non-compliance with iron chelation therapy (deferoxamine) and recent polyuria and polydipsia for a few weeks. He had not undergone any routine endocrinological screening in the last two years.
He was recently diagnosed with diabetes mellitus at a local clinic but had not begun any definitive treatment. There was no prior cardiac history.
Initial Assessment
On examination, he was drowsy but arousable, dehydrated, hypotensive (BP 90/60 mmHg), tachycardic (HR 128/min), with a respiratory rate of 30/min and Kussmaul-type breathing. His random blood glucose was 478 mg/dL. Urine ketones were strongly positive. Arterial blood gas showed high anion gap metabolic acidosis, consistent with diabetic ketoacidosis (DKA).
Routine management with intravenous fluids, insulin infusion, potassium supplementation, and close monitoring was initiated.
Clinical Turn: Arrhythmias and Instability
During treatment, the patient developed sudden palpitations and chest discomfort. Telemetry revealed episodes of supraventricular tachycardia (SVT) with rates peaking above 180/min. These were initially responsive to adenosine but recurred. Given persistent tachycardia despite correction of acidosis, cardiac evaluation was escalated.
An ECG showed ST depressions in the lateral leads. Troponin I was elevated (2.1 ng/mL), raising suspicion for myocardial injury. A 2D echocardiogram revealed:
- Regional wall motion abnormality (RWMA) in the anterolateral segment
- Hypokinesia of the anterior and lateral walls
- A left ventricular ejection fraction (LVEF) of 40%
- A well-defined apical thrombus measuring 2.5 × 1.5 cm
The diagnosis now included acute coronary syndrome (non-ST elevation MI) and LV thrombus, possibly in the setting of iron overload cardiomyopathy. The patient began showing signs of cardiogenic shock—cold extremities, worsening hypotension, and elevated lactate.
Sepsis Joins the Fray
While managing the cardiac component, the patient also developed fever and leukocytosis. Broad-spectrum antibiotics (piperacillin-tazobactam) were started empirically. Blood cultures were sent. The provisional diagnosis was updated to include sepsis, possibly secondary to a transfusion-associated source or gut translocation during DKA.
A multidisciplinary team involving endocrinology, cardiology, hematology, and critical care was engaged.
Hospital Course and Management
The patient received:
- Insulin therapy and fluid correction for DKA
- Amiodarone infusion for SVT control
- IV furosemide and dobutamine for cardiogenic shock
- LMWH anticoagulation for the LV thrombus
- Empiric antibiotics for sepsis
- Chelation therapy re-initiation with deferasirox once stabilized
Despite a stormy course, the patient improved over the following week. Vasopressors were weaned off, blood sugars stabilized, and his mentation returned to baseline. Repeat echo at discharge showed slight improvement in EF (45%) and reduction in thrombus size.
Pathophysiological Intersection
This case exemplifies a multi-organ crisis, precipitated by long-standing iron overload in a transfusion-dependent individual with poor therapy adherence.
Key elements at play:
- Secondary diabetes mellitus: Iron deposition in pancreatic beta cells leads to insulin deficiency. This patient had features of latent glucose intolerance that progressed into overt DKA.
- Iron cardiomyopathy: Iron deposits in myocardial tissue cause restrictive or dilated cardiomyopathy, arrhythmias, and reduced ejection fraction. The presence of RWMA and LV thrombus raises concern for both structural and ischemic insults.
- Hypercoagulability: Thalassemia increases thrombotic risk due to endothelial dysfunction, chronic inflammation, and splenectomy status (if present).
- DKA-induced arrhythmias: Acidosis and electrolyte imbalances further exacerbate myocardial irritability.
- Sepsis: Compounding the hemodynamic insult, systemic infection further tipped the balance toward shock.
Discussion
This young man embodied the cumulative burden of untreated thalassemia complications—metabolic, cardiovascular, and infectious. His condition was not a simple endocrinological emergency; it was the convergence of neglected chronic disease with acute systemic collapse.
This case asks us:
- Are we doing enough long-term monitoring in thalassemia care?
- Are patients being lost to follow-up post-transition from pediatric to adult care?
- Do we anticipate multi-organ failure in chronic anemias?
In many resource-limited settings, chronic disease management is inconsistent. This case is a stark reminder that non-compliance is not benign—it accumulates risk silently.
Learning Pearls
✅ Thalassemia major patients need annual endocrine and cardiac screening, especially for glucose metabolism and myocardial function.
✅ Chelation therapy is the cornerstone of long-term survival. Gaps lead to irreversible organ damage.
✅ DKA in a thalassemic should prompt cardiac work-up, particularly if arrhythmias or unexplained hypotension occur.
✅ LV thrombus in a young adult is rare but serious; early echocardiography and anticoagulation are key.
✅ A team-based approach is essential—this case involved critical care, endocrinology, cardiology, and hematology working together.
Conclusion
This case underscores a life-threatening synergy between chronic iron overload and acute metabolic derangement. The presence of a left ventricular thrombus, DKA, arrhythmias, and cardiogenic shock in a 20-year-old is not common—and when it happens, it’s catastrophic. Timely recognition, aggressive supportive care, and a coordinated multidisciplinary effort are what ultimately turned this from a likely fatality to a survivable event.