Successful Management of Hughes-Stosvin Syndrome in a Patient with Chronic Kidney Disease: A Case Study

In a remarkable case at Sterling Hospital, a 39-year-old female with chronic kidney disease (CKD) and hypertension was diagnosed with the rare and challenging condition, Hughes-Stovin syndrome, a variant of Behçet’s syndrome. This article outlines her journey, from initial diagnosis through complex management, to a successful kidney transplant.

Initial Diagnosis and Treatment

The patient was diagnosed with CKD stage 4 and hypertension in April 2022. Despite initial conservative management, her condition deteriorated, and she required maintenance hemodialysis beginning in July 2022 via a right brachio-cephalic AV fistula. Complicating her health further, she experienced recurrent fevers of unknown origin (PUO) and one episode of spontaneous hemothorax by August 2022. A high-resolution CT (HRCT) scan of her chest revealed multiple pulmonary artery aneurysms, a hallmark sign of vasculitis. Additionally, she had several instances of superficial thrombophlebitis, requiring prolonged hospitalizations and treatments with various antibiotics and antifungals, but with little effect.

Referral to Sterling Hospital

After her condition showed no improvement, she was referred to Sterling Hospital for advanced care. While her maintenance dialysis continued, the fever spikes persisted, and she continued to suffer from superficial thrombophlebitis and recurrent hemoptysis. A lung biopsy following one of the hemoptysis episodes indicated pulmonary capillaritis, further supporting the diagnosis of vasculitis. Based on this, she was treated with cyclophosphamide injections twice weekly in consultation with a rheumatologist.

Diagnosis of Hughes-Stovin Syndrome

Despite these treatments, the patient's symptoms did not improve, prompting a more in-depth investigation by the rheumatologist. HLA-B51 testing was conducted, which returned positive, confirming the diagnosis of Hughes-Stovin syndrome—a rare variant of Behçet's syndrome. This condition is characterized by pulmonary artery aneurysms, hemothorax, superficial thrombophlebitis, and vasculitis, making her case particularly complex.

Targeted Treatment and Disease Remission

Given the confirmed diagnosis, the patient was started on a targeted treatment with Adalimumab, a biologic immuno-suppressant, administered subcutaneously once every three weeks from May 2023. This therapy yielded a significant positive response: her fever subsided, she gained weight, and there were no further episodes of hemoptysis or superficial thrombophlebitis.

Successful Kidney Transplant

The patient continued dialysis three times a week until March 2024 when a cadaver kidney became available for transplant. The surgery was successful, and her kidney function stabilized with a nadir creatinine level of 1.0. She is currently off dialysis and is being maintained on triple immunosuppressive therapy along with antihypertensive medications.

Conclusion

This case demonstrates the complexity of managing rare autoimmune conditions like Hughes-Stovin syndrome, particularly in patients with underlying chronic illnesses such as CKD. Through timely diagnosis, targeted treatment with Adalimumab, and expert multidisciplinary care, this patient achieved disease remission and successfully underwent a kidney transplant, offering a new lease on life.