Treatments as described above can be effective in reducing the frequency and degree of effusions. Deformative changes to joints are not a common feature of this mostly non-inflammatory condition. Epidemiology
Intermittent hydrarthrosis is uncommon and its prevalence is not known. (In 1974 more than 200 cases were reported in published literature). It affects men and women equally although some publications suggest the condition is slightly more prevalent in females. Case reports indicate that only white people are affected. First onset of IH is most common between the ages of 20 and 50 years, and in females, onset can often coincide with puberty.Usually the condition begins spontaneously or following trauma to the joint in otherwise healthy individuals. History
Perrin (France) is reported to have first recorded this condition in 1845. The periodic nature of infusions was noted by CH Moore (Middlesex Hospital, UK) in 1852. When the condition was first being reported in scientific journals, IH was classified as either ‘symptomatic’ or ‘idiopathic’ (of unknown cause). The symptomatic state was associated with existing disease such as rheumatoid arthritis, ankylosing spondylitis, other arthritis, or infection e.g. Brucellosis. With the idiopathic variant, an allergic component was believed to be involved since, in some patients at least, allergic phenomena (including cases of angioedema) were associated with episodes of inflammation.
Prognosis
The term thanatophoric is Greek for "death bearing". Children with this condition are usually stillborn or die shortly after birth from respiratory failure. A small number have survived into childhood, and a very few beyond. Survivors have difficulty breathing on their own and require respiratory support such as high flow oxygen through a canula or ventilator support via tracheostomy. There may also be evidence of spinal stenosis and seizures. The oldest known living TD survivor as of 2013 was a 29-year-old woman. One man lived to be 26 years old. Another man lived to age 20. It was reported in 1998 that a 21 year old man with the condition lives in the United States, while two children with TD aged 10 and 12, a boy and a girl, were known in Germany. There was also a 6-year-old boy living with TD and two 1-year old boys. As of 2021 Christopher Álvarez, 24, is a Colombian living with TD in New York City. Incidence
This condition affects about 1 in 60,000 births. References
External links
GeneReview/NCBI/NIH/UW entry on Thanatophoric Dysplasia
Thanatophoric dysplasia at NLM Genetics Home Reference