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Medline Abstract For Reference 1 Of Fibrodysplasia Uptodate

Leo Migdal
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medline abstract for reference 1 of fibrodysplasia uptodate

Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that... This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs. Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.

Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification... Flare-ups may also be caused by viral illnesses such as influenza. People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities. Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 1 million people worldwide.

Several hundred cases have been reported. Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and disabling genetic disorder of connective tissue. The condition is characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and striated muscles. Fibrodysplasia ossificans progressiva occurs sporadically and is transmitted as a dominant trait with variable expression and complete penetrance. Reproductive fitness is low. There are fewer than 150 known patients with the disorder in the United States.

A point prevalence of one affected patient in every 2 million of population has been observed. There is no sexual, racial, or ethnic predilection. The disease presents in early life; its course is unavoidably progressive. Most patients are confined to a wheelchair by the third decade of life and often succumb to pulmonary complications in the 5th/6th decade of life. At present there is no effective prevention or treatment. The recent discovery of overproduction of bone morphogenetic protein-4 in lesional cells and lymphocytic cells of affected patients provides a clue to both the underlying pathophysiology and potential therapy.

The FOP gene has recently been mapped to human chromosome 4q 27-31. How many clinical questions arise during an average day at the office? How many more questions might one entertain if clear-cut, expert advice were seconds away? Enter UpToDate, an electronic clinical database for, well, acquiring up-to-date clinical information—plus continuing medical education (CME) credits and patient handouts. Unlike a textbook, UpToDate is not set up for paging through content from beginning to end. Rather, it is designed for searches that yield lists of relevant monographs.

UpToDate’s initial screen displays simple menu bars and a prominent search box (Figure 1). The next step allows one to narrow the search (Figure 2). Per its educational objectives, UpToDate provides “instant access to the most current clinical information and recommendations on patient care and treatment,” yet is “comprehensive” from “physiological concepts through results of the most recent clinical... The service is available in 3 formats: personal computer-based, online, and Pocket PC. We reviewed these formats using Windows PCs. Following are a few questions that needed answering during a half-day of practice:

UpToDate answered 4 of the 6 questions quickly, requiring no more than a few minutes for each search. We found that 2% nitroglycerin must be diluted to 0.2% for use on anal fissures. We also obtained summarized information on interstitial cystitis, a treatment recommendation for conjunctivitis, and data regarding the efficacy of calcitonin administered by either of 2 routes. The information generally was excellent.

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