When I met him nine years ago, Johann was the kind of patient that family physicians dread taking on. He looked twice his 28 years, thanks to a long history of polysubstance abuse, including alcohol, cocaine, and heroin. In addition, he suffered from asthma, anxiety, depression, irritable bowel syndrome and hepatitis C.
Tragically, he was also the father of a two-year-old, HIV-positive boy who had become infected in utero by his mother. Frankly, Johann was not my cup of tea, but I agreed to look after him as a favour to his hepatologist, who is a good friend of mine.
One year later, Johann’s girlfriend left him, taking their son to another province. Johann, without any significant source of income with which to travel, has never seen him again. Despite this and other setbacks in his life, Johann has surprised me with his resiliency, finally even stopping his self-abusive behaviour.
Two years ago, at age 35, Johann developed significant pain in his back, hands and ankles over 6 months. There were no radicular symptoms. Johann had been born with congenital club feet. Radiographs of the affected joints showed considerable osteoarthritis. Serological tests were negative. Liver function tests were, of course, elevated (mildly), the platelets were slightly reduced, and the ESR was 16.
On examination, his face and body showed significant scarring and light bruising. He had very poor oral hygiene and had had a number of dental procedures. There was a soft systolic murmur heard over the prechordium and the neurological exam was normal other than his vision, which had declined significantly over the past two years. Does this constellation of symptoms point to any unifying diagnosis?
Don’t be disappointed if you’re stumped. I was too! But the knowledgeable rheumatologist I sent Johann to was not.
The critical finding that the rheumatologist discovered on physical examination was hypermobility of his hands and knees. Does that help?
Johann was diagnosed with Ehlers-Danlos syndrome (EDS). This is actually a group of genetic disorders characterized by mutations in the production of collagen. With abnormal collagen, patients suffer from loose joints, hyperelastic skin, bruising and a variety of other problems involving the strength, structure and integrity of bones, blood vessels and internal organs.
As with most genetic disorders, there is no cure. An echocardiogram is prudent and physical therapy may be effective. Life span, except in the rare vascular form of EDS, is normal.
This case taught me that in the practice of medicine, there’s often more than meets the eye. I had mistakenly assumed that Johann’s scars, bruises, poor oral hygiene and bowel complaints were simply a result of his lifestyle. But it took an astute rheumatologist to see past those issues and teach me that every patient deserves nothing but our very best clinical efforts.
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