A rare and stubborn form of facial swelling has shown dramatic improvement after dermatologists tried a higher dose of omalizumab – a drug better known for treating asthma and chronic urticaria – in a patient whose symptoms had resisted every standard therapy.
The case, detailed in a recent research letter published in JDDG: Journal der Deutschen Dermatologischen Gesellschaf [link here], describes what may be the first report of Morbihan syndrome responding to high-dose, high-frequency omalizumab.
The 38-year-old woman who presented to a dermatology clinic in Melbourne had spent more than a year watching her face gradually change. What began as swelling around her chin spread to her cheeks and eyelids, leaving her with persistent, non-pitting facial oedema and redness. Despite multiple rounds of treatment, nothing worked.
“Her facial oedema progressively worsened,” the authors wrote, despite trials of isotretinoin, corticosteroids, and antibiotics including erythromycin and minocycline.
Morbihan syndrome is a rare inflammatory condition that causes chronic, disfiguring swelling in the central face. Its cause remains unclear, and diagnosis is often delayed or mistaken for rosacea, lupus or angioedema. Laboratory tests are typically normal, and treatment is frustratingly hit and miss, report the treating team including Dr Theng Chun Wong from the Department of Dermatology at Monash Health.
“There is no standardised treatment protocol for MoS and management is often challenging,” the authors said. “Isotretinoin is considered first-line therapy, although response rates are variable.”
The patient’s symptoms continued to worsen until clinicians escalated treatment to the anti-IgE monoclonal antibody, omalizumab, at a loading dose of 450 mg before progressively increasing the dose and frequency over the following year. The higher regimen, 450 mg every two weeks, produced almost complete remission.
By the end of two years, the patient’s dermatology life quality index score was 1, indicating minimal impact from the disease. “No adverse effects of omalizumab were reported,” the team wrote.
Researchers believe omalizumab may work by blocking IgE-mediated activation of mast cells, which can drive the swelling, redness and fibrosis seen in Morbihan syndrome.
“Omalizumab may modulate the pathogenesis of MoS in a subset of patients by inhibiting mast cell degranulation and the release of downstream inflammatory mediators,” the authors said.
Only two other cases of Morbihan syndrome successfully treated with omalizumab have been reported worldwide, both using standard doses. This case marks the first documented success with higher and more frequent dosing.
“Our case highlights that MoS recalcitrant to standard omalizumab dosing may benefit from higher doses and more frequent administration,” the authors said.
They say their findings “underscore the importance of setting realistic treatment expectations” in patients with chronic, treatment-resistant disease.