Abstract Co-morbid conditions are common in patients with rheumatoid arthritis (RA). Although the presence of co-morbid conditions can be assessed using standardised indexes such as the Charlson index, most clinicians…
Abstract Rheumatoid arthritis (RA) is considered to occur when genetic and environmental factors interact to trigger immunopathological changes and consequently an inflammatory arthritis. Over the last few decades, epidemiological and…
In 2011, the outcome of rheumatoid arthritis (RA) is better than ever before in part due to changes in the natural history of the disease and also a reflection of…
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare disease of the skin and bones that has clear genetic predisposition and well-defined clinical features. PDP is characterised by…
Jaccoud’s arthropathy (JA) is a condition characterised clinically by ‘reversible’ joint deformities such as swan neck, thumb subluxation, ulnar deviation, ‘boutonniere’ and hallux valgus, along with an absence of articular…
Familial tumoral calcinosis (TC) is a rare disorder distinguished by the development of ectopic and vascular calcified masses that occur in settings of hyperphosphatemia (hFTC) and normophosphatemia (nFTC). Serum phosphorus…
The focus will be on xanthomatosis, a tissue danger signal which needs to be recognized by the clinician, and its relationship with monogenetic lipoprotein disorders (cholesterol, triglycerides), bile acid and…
Blau syndrome (BS) is a rare dominantly inherited, inflammatory syndrome characterised by the clinical triad of granulomatous dermatitis, symmetric arthritis and recurrent uveitis. The caspase recruitment domain gene CARD15/NOD2 has…
Gaucher disease (GD) is an inherited lysosomal storage disorder affecting multiple organs. Non-neuronopathic GD, the most common form, can present with hepatosplenomegaly, anaemia, bleeding tendencies, thrombocytopenia, skeletal pathologies, growth retardation…
Genetic haemochromatosis is a hereditary disease characterised by tissue iron overload. In Caucasians it is most often due to homozygous C282Y HFE gene mutation, but other genes may be involved….
