Factor V Leiden thrombophilia with acute pulmonary embolism in an operated arthroscopic anterior cruciate ligament with medial collateral ligament reconstruction: A rare case report

INTRODUCTION

Arthroscopic anterior cruciate ligament (ACL) reconstruction is among the most prevalent orthopedic surgical interventions and is regarded as a safe treatment with minimal complication rates. Numerous case reports documented venous thromboembolism (VTE) following arthroscopic ACL surgery.^[1] Nonetheless, findings of Factor V Leiden (FVL) thrombophilia associated with acute pulmonary embolism (PE) following arthroscopic ACL surgery are unprecedented. Heterozygous FVL impacts 5% of Caucasians, predominantly Northern Europeans and individuals from the Middle East. Hispanics, Asians, Africans, and Native Americans infrequently possess FVL.^[2] FVL elevates the risk of deep vein thrombosis (DVT), with or without PE.^[3] We present a rare instance of a heterozygous mutation in the factor V gene, manifested as acute PE in a South Indian patient following arthroscopic ACL and MCL reconstruction.

CASE REPORT

A 35-year-old male patient with a recent history of ACL injury (January 10, 2025) for which arthroscopic ACL and MCL reconstruction was done on January 14, 2025 [Figure 1], presented initially to our hospital emergency department one week after surgery (January 20, 2025) with complaints of breathlessness and altered mental status and was diagnosed to be in cardiac arrest, and advanced cardiac life support (ACLS) protocol was initiated immediately. The patient had no comorbidity or risk factor for DVT or PE before this incident. A computed tomography (CT) pulmonary angiography was performed, showing PE in both the main left and right pulmonary arteries [Figure 2]. The patient was subsequently thrombolyzed with tenecteplase (40 mg IV).

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Figure 1:

X-ray left knee, anteroposterior (Left side) and lateral view (Right side), post anterior cruciate ligament and medial collateral ligament reconstruction surgery.

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Figure 2:

Computed tomography pulmonary angiography showing acute pulmonary thromboembolism with a large clot (red arrow).

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CLINICAL ASSESSMENT

The patient is currently intubated with a Glasgow Coma Scale score of E1M3Vt. Vital signs show a blood pressure of 128/70 mmHg with ongoing support from noradrenaline, vasopressin, and adrenaline. The pulse rate is 102 beats/min, and the respiratory rate is 26 breaths/min. Pupils are bilaterally reactive to light. The patient is on 30% FiO₂ in pressure-regulated volume control mode. The patient experienced another episode of cardiac arrest during the intensive care unit stay; two cycles of CPR achieved the return of spontaneous circulation.

DISCUSSION

Although many case reports on VTE following arthroscopic ACL surgery,^[1,4,5] this is the first case report on FVL thrombophilia associated with acute PE following arthroscopic ACL surgery. The likelihood of VTE episodes may be heightened in arthroscopic ACL repair compared to meniscectomy, which is deemed less invasive and does not necessitate osseous drilling.^[5]

FVL results from a mutation in the factor V gene. The mutated FVL exhibits resistance to activated protein C (APC). Consequently, APC is incapable of inhibiting FVL’s production of fibrin. Upon activation, FVL diminishes coagulation at a slower rate than the standard factor V.^[6] Heterozygous FVL impacts 5% of Caucasians, predominantly Northern Europeans and Middle Easterners, although it is infrequently observed in Hispanics, Asians, Africans, and Native Americans.^[2] Our patient is a South Indian individual identified with a heterozygous FVL mutation, indicating the inheritance of one copy of the FVL gene from one parent and one copy of the normal factor V gene from the other parent. The probability of PE escalates with the presence of many predisposing variables; hence, awareness of these factors is crucial.^[7] Arthroscopic surgery is seen as lower risk compared to other orthopedic surgeries, including total joint replacement and trauma-related interventions. Despite the modest complication rates associated with arthroscopy, VTE problems, including DVT and PE, pose significant life-threatening risks and warrant urgent consideration.^[1] In our case, arthroscopic ACL reconstruction was performed 1 week before the diagnosis of PE, which is a moderate predisposing factor. The patient did not adhere to the prescribed physiotherapy and opted for bed rest post-surgery, contrary to medical advice, which constitutes a significant predisposing factor.

The prodromal signs and symptoms of PE are predicated on hemodynamic instability and the compensatory mechanisms employed to rectify that instability. The signs and symptoms typically indicate clinical features of compromised pulmonary gas exchange and diminished cardiac output, including dyspnea, pleuritic chest discomfort, tachypnea, and tachycardia.^[8] Regrettably, they exhibit inconsistency and frequently lack specificity. Our patient was admitted to the emergency department, presenting with severe dyspnea and altered mental status. Freeman.^[9] determined that neither symptom nor physical finding exhibited a high positive predictive value for the diagnosis of PE. Stein et al.^[10] showed that dyspnea, tachypnea, or pleuritic discomfort was observed in 92% of patients with PE.

Although day-care orthopedic and arthroscopic surgeries are generally safe, rare, potentially life-threatening complications can occur. These include PE due to DVT, fat embolism syndrome following long bone manipulation, anaphylaxis to drugs, and local anesthetic systemic toxicity, which may arise from accidental intravascular injection leading to seizures or cardiac arrest. Other critical risks include cardiac arrhythmias, air embolism – particularly during shoulder arthroscopy – compartment syndrome, and hemorrhagic shock from vascular injury. Infections may progress to sepsis and septic shock, while perioperative embolism can result in stroke. Elderly and obese individuals, as well as those with cardiac or thromboembolic histories, are at higher risk. Preventive measures such as thorough pre-operative assessment, DVT prophylaxis, strict aseptic technique, and vigilant perioperative monitoring are essential.

CONCLUSION

Our case underscores a rare but serious complication of arthroscopic ACL and MCL reconstruction – acute PE associated with heterozygous FVL mutation in a South Indian male patient with no prior history of thromboembolic risk factors. Early recognition of symptoms and adherence to postoperative physiotherapy are essential to prevent life-threatening complications. This case also emphasizes the importance of considering genetic testing in unexplained or severe thromboembolic events following orthopedic procedures, even in populations where such mutations are rare.