Assessment of Epidemiology and Clinical Profile of Psoriatic Arthritis Patients in India.

BACKGROUND: Psoriasis is an inflammatory skin disease associated with significant comorbidity. However, the characteristics of patients with psoriasis are not well documented in India, and a more detailed understanding is needed to delineate the epidemiologic profile at the regional level for better management of psoriasis. Herein, we reported the clinical profile and demographic pattern of psoriasis to further understand its burden in the Indian setting. METHODS: We conducted a retrospective observational study of patients diagnosed with psoriasis who fulfilled the classification criteria for psoriatic arthritis (CASPAR) criteria. Patients were included from the rheumatology outpatient department of Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute in Mumbai, India. The outcomes included demographic and clinical profiles, patterns of joint involvement, and comorbidities associated with psoriasis. A p-value of <0.05 was considered significant. RESULTS: We enrolled 60 patients, with a mean age of 50.87 years and a higher proportion of females (62%). The majority of patients with less than five joints had associated comorbidities (40 out of 60). Psoriatic arthritis (PsA) occurred in 41 patients [mean ± standard deviation (SD) age of onset-38.88 ± 13.24 years], with the highest occurrence in the 30-50 years (53.3%). The majority of patients with PsA developed it within 2 to ≥5 years of psoriasis occurrence. We did not find any significant correlation between the occurrence of PsA and comorbidities, as well as the duration of PsA and the number of joints (p = 0.152). Pitting and enthesitis were the most common morphological changes noted in almost half of the patients. CONCLUSION: Our study provides an overview of the epidemiologic and clinical characteristics of psoriasis patients in India. These findings could be useful for early diagnosis of PsA and help clinicians in assessing the progression of psoriasis into PsA.

Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

OBJECTIVE: To report genotype data of the patients with Wilson disease (WD) hailing from across several parts of India to add to the available spectrum of causative variants in ATP7B gene (ATPase copper transporting beta polypeptide gene) and associated phenotypes in the Indian population. METHODS: The entire ATP7B gene was sequenced in 58 patients with WD and additional testing was also done by MLPA to look for intragenic deletions duplications and exome sequencing to rule out genetic variations with similar phenotypic overlap. RESULTS: Of all patients, 37 patients had a total of 33 distinct pathogenic variations, including 29 in the exonic regions and 4 at intronic splice sites. Of the variations identified, six were novel. The underlying genomic variations could be identified in nearly two-thirds of the patients by sequencing the entire gene. CONCLUSIONS: This study reports the genotype-phenotype data to add to the available spectrum of causative variants in ATP7B gene. The inability to detect a pathogenic variation in some patients and the existence of phenotypic variations in individuals with the same variation suggest that additional factors or genes may play a role in causation of the disease. Further, a marked genetic heterogeneity was found in the study patients, indicating ethnic diversity of the Indian population.

Quality of Life of Patients with Wilson's Disease and Their Families.

Objectives: Wilson's disease (WD) is a chronic disease caused by altered copper metabolism requiring lifelong therapy. Its long-term and debilitating nature has the potential to affect the quality of life (Qol) of patients as well as their families. Our study aims to assess this impact of the disease on patients and their families. Methods: We conducted a prospective, observational study over 2 years on 73 patients and 73 age-matched controls with 33 children and 40 adults in each group. The Qol of cases and controls was assessed using the PedsQL Generic Core Scales and World Health Organisation Quality of Life BREF (WHOQOL-BREF) for children and adults, respectively. Families of child and adult patients were interviewed using PedsQL Family Impact Module and Family Attitude Scale (FAS), respectively. The data were statistically analyzed. Results: Mean age of the cases was 22.04 ± 11.8 years. Qol scores for both adults and children were worse in cases with neuropsychiatric disease than in those with hepatic disease. For children, the mean scores of overall psychological functioning were lower in cases compared with controls (P = 0.0001). Qol of parents of the patients was significantly lower than those of parents of the controls as was the family functioning (P = 0.0001 and P = 0.016). Family Attitude Scale scores for adults did not differ significantly between cases and controls. Conclusion: The Qol of patients with neuro-WD is worse than that of hepatic disease. The disease impacts the psychological functioning of the children and the Qol of their families, which improves with the duration of the disease. What is known: WD is a long-term, debilitating disease. Patients have to take lifelong treatment with frequent medical visits and often multiple hospitalizations. What is new: WD affects the Qol of not only the patients but also their families. Qol of patients with neuro-WD is worse than that of patients with hepatic disease.