Abstract
NLRP3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant disorder involving multiple systems. We aim to assess the ocular manifestations of Chinese adult patients with NLRP3-AID. Twelve adult patients (> 18 years old) were diagnosed as NLRP3-AID at the Department of Rheumatology, Peking Union Medical College Hospital. All patients underwent ophthalmologic evaluation by an ophthalmologist. Clinical and genetic features of these patients were collected and compared with those from Caucasian population. A total of 7 NLRP3-AID patients (58%) 14 eyes had ocular manifestations. Five NLRP3 variants were identified, and 3 patients (43%) with severe ocular damages were all found to have the NLRP3 T348M variant. The incidences of papilledema and optic atrophy in the Chinese adult NLRP3-AID patients of moderate type were similar to those in the Caucasian NLRP3-AID patients of severe type. This is the first cohort of Chinese adult NLRP3-AID patients with ocular involvement. Ocular manifestations were diverse and even severe in NLRP3-AID, particularly in patients with the moderate phenotype, and may have relationship with genotypes. Awareness of these manifestations by rheumatologists and ophthalmologists could help to avoid the irreversible ocular damages.
Highlights
NLR family pyrin domain containing-3 (NLRP3)-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant disorder involving multiple systems
Urticarial-like rash, arthralgia/arthritis, hearing loss and central nervous system involvement are the most common symptoms associated with fever, the ocular manifestations should not be neglected in NLRP3-AID
Literature has shown that ophthalmic findings could occur in all 3 types of NLRP3-AID, whereas prominently and critically in the severe type (CINCA)[13]
Summary
NLRP3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant disorder involving multiple systems. The incidences of papilledema and optic atrophy in the Chinese adult NLRP3-AID patients of moderate type were similar to those in the Caucasian NLRP3-AID patients of severe type. NLRP3-AID is an autosomal dominantly inherited SAID caused by mutations in the NLR family pyrin domain containing-3 (NLRP3) gene on chromosome 1q44, leading to enhanced activation of the NLRP3-inflammasome and overproduction of interleukin (IL)-1β6,7 It includes three overlapping clinical entities of increasing disease severity: the mild (familial cold autoinflammatory syndrome, FCAS), moderate (Muckle–Wells syndrome, MWS), and severe phenotypes (chronic infantile neurological cutaneous and articular syndrome, CINCA). In regard to the ocular involvement, chronic conjunctivitis is known as the most frequent in NLRP3-AID, and serious involvement of eyes can be seen in the severe phenotype and leads to bad s equelae[9] Both rheumatologists and ophthalmologists should be aware of ocular manifestations related to NLRP3-AID. We described the ocular manifestations of adult NLRP3-AID in the Chinese population and compared them to the Caucasian cohorts of NLRP3-AID
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