Connective tissue connects. And so, when diagnosing a connective tissue condition, we must join the dots between symptoms across the body that can at first appear unrelated. There are many disorders of the connective tissue and at our Patient Information Symposium in London this Saturday we are taking the conversation beyond those conditions we support - Marfan and Loeys-Dietz syndromes - to include Stickler Syndrome. What is Stickler Syndrome?
Stickler syndrome was discovered in 1965 by Dr Gunnar Stickler, a German-American paediatrician. It is a genetic condition affecting connective tissue, specifically collagen, with symptoms that can vary widely from person to person. Like Marfan syndrome, it can affect the joints and bones, but the two conditions have quite different patterns of involvement and risk. In Stickler syndrome, the eyes, hearing, joints and mouth and face are particularly important.
There are now at least 11 recognised sub-groups of Stickler syndrome, but its effects tend to congregate around these four areas: short-sightedness, cataracts and, most significantly, a high risk of retinal detachment; hearing loss and glue ear; hypermobility and progressive arthritis; and cleft or high-arched palate.
The distinction from Marfan syndrome is important. While enlargement and dissection of the aorta are major concerns in Marfan syndrome, Stickler syndrome carries a particular risk to the eyes. Indeed, it is the most common inherited cause of retinal detachment.
Yet Stickler syndrome is frequently overlooked or diagnosed one symptom at a time. The dots are often not joined up, leaving important risks, particularly retinal detachment, unrecognised. Diagnosis should not be a lottery. When these symptoms begin to form a pattern, it is important to seek specialist assessment and join the dots.
