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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary biliary cholangitis (PBC) is a chronic, cholestatic condition associated with symptoms that directly impact the quality of life in those afflicted with the disease. In addition to pruritus and fatigue, patients with PBC may develop metabolic bone disease from reduced bone density, such as osteopenia and osteoporosis. Osteoporosis increases the risk of fractures, as well as morbidity and mortality. The prevalence of osteoporosis in PBC is expected to increase in conjunction with the rising prevalence of PBC as a whole. Timely diagnosis, prevention and management of osteoporosis are crucial in order to optimize the quality of life. There is a paucity of data evaluating the management of osteoporosis in PBC. The optimal timing for diagnosis and monitoring is not yet established and is guided by expert opinion. National guidelines recommend screening for osteoporosis at the time of diagnosis of PBC. Monitoring strategies are based on results of initial screening and individual risk factors for bone disease. Identifying reduced bone density is imperative to institute timely preventive and treatment strategies. However, treatment remains challenging as efficacious therapies are currently lacking. The data on treatment of osteoporosis in PBC are mostly extrapolated from postmenopausal osteoporosis literature. However, this data has not directly translated to useful treatment strategies for PBC-related osteoporosis, partly because of the different pathophysiological mechanisms of the two diseases. The lack of useful preventive measures and efficacious treatment strategies remains the largest pitfall that challenges the management of patients with PBC. In this review, we comprehensively outline the epidemiology, clinical implications and challenges, as well as management strategies of PBC-related osteoporosis.
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PMID:Osteoporosis in Primary Biliary Cholangitis: Prevalence, Impact and Management Challenges. 3202 74

Primary biliary cholangitis is a cholestatic, chronic autoimmune liver disease with a wide individual variation in disease progression. The diagnosis is predominantly based on chronic elevation of alkaline phosphatase and the presence of anti-mitochondrial antibodies or other specific antinuclear antibodies (i.e. anti-gp210 and anti-sp100). Even in early-stage disease, health-related quality of life can be severely impaired by symptoms such as pruritus, fatigue, and sicca syndrome and metabolic bone disease should be assessed and treated. The prognosis of the disease is, however, largely determined by the development of cirrhosis and its complications. Ursodeoxycholic acid is associated with an improved prognosis and should be initiated and continued in all patients. Clinical outcome is related to the biochemical response to ursodeoxycholic acid, but the prognosis of those with an incomplete response is still better than those who remain untreated. Obeticholic acid was recently approved as second-line treatment and bezafibrate may serve as an adequate off-label alternative, particularly in patients with pruritus. Preliminary data suggest an additive effect of triple therapy with ursodeoxycholic acid, obeticholic acid, and bezafibrate, whereas other promising drugs are being evaluated in clinical trials.
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PMID:Diagnosis and treatment of primary biliary cholangitis. 3229 7

We present a case of an otherwise healthy 3-year-old child who presented with limping, bone pain, fatigue, and agitation. Differential diagnosis included an infection of the bone, malignancy, an inflammatory bone disease, and metabolic bone disease. Magnetic resonance imaging of the lower limbs and the spine was consistent with scurvy, and the diagnosis was confirmed by very low levels of vitamin C. Further history taking revealed a diet based entirely on dairy pudding, with no fruits or vegetables, and being a "picky eater" was the sole reason. Intravenous treatment with vitamin C led to full recovery. Previous reports of scurvy were in patients with other medical conditions, such as malabsorption, or behavioral conditions as in autism. This case demonstrates that scurvy, an almost forgotten condition from past centuries, can occur in otherwise healthy children and should raise awareness regarding the importance of a balanced diet and proper nutritional history taking. Following growth charts as the only screening tool for balanced and inclusive nutrition may not be sufficient.
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PMID:"What can you C in a limping child?" Scurvy in an otherwise healthy "picky eater". 3310 52


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