Late diagnosis of rare bone disease

Patients with the rare bone disease SCCH in many cases live with symptoms for years before being properly diagnosed. This increases the likelihood of developing chronic pain or even becoming disabled.  Researchers in Leiden published an article on this subject in ‘Arthritis Care & Research’.

Bone scan of a sternum and clavicle showing inflammation activity.   

Bone disease

The rare bone disease Sterno-costo-clavicular hyperstosis (SCCH) is a rheumatological disorder, although it is not rheumatoid arthritis itself. The research team comprised Willem van der Kloot from the Institute of Psychology, Neveen Hamdy, Sadhna Chotkan and Ad Kaptein from the LUMC. The research was supported by the Netherlands Association of Patients with SCCH. Their research included the first study of the consequences of late diagnosis.

Inflammatory disorder

Skin disorder (pustules) on the sole of the foot. This complaint can occur in some cases of SCCH. 

SCCH is a chronic, sterile inflammatory disorder of parts of the skeleton. Patients suffer pain, swelling and malformation of the sternum, clavicle and upper ribs. Roughly one-third of sufferers also have skin problems, particularly on the palms of the hands and the soles of the feet. Medication can slow the condition down and reduce the symptoms. In the Netherlands some 80 people have been diagnosed with SCCH.  

Diagnosis

The researchers interviewed a large number of sufferers. The path to diagnosis in most cases was very inefficient. The patients were given the right diagnosis on average five years after the first visit to a doctor, and in some cases diagnosis even took as long as 30 years.  A quarter of the patients had to wait more than eight years for the diagnosis and half were referred to three or more specialists before a diagnosis was made.  The patients underwent many different investigations, such as blood tests, X-rays, scans and bone biopsies, in the years before the diagnosis was confirmed.
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Spread of SCCH patients in the Netherlands.

This map shows circles indicating the postal areas where 51 patient members of the SCCG patient organisation live. The greater the number of patients, the larger the circle. Members are concentrated in and around Apeldoorn, Leiden, Nijmegen and Tiel.  The most likely explanation for this is that SCCH patients live mainly in the area of the four hospitals with specialists who are known to treat patients diagnosed with SCCH. In other regions SCCH may be less recognised by medical staff. 
Full explanation (in Dutch) (pdf).
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Coincidence

Forty per cent of the patients studies were given a wrong diagnosis, varying from 'malignant tumours' to 'psychosomatic symptoms' to 'problems of old age'.  What was remarkable was that almost a quarter of the patients eventually arrived at the right diagnosis by doing research themselves or because they chanced to hear of the condition from friends or acquaintances.

Quality of life

The researchers discovered that a long process of diagnosis has an adverse effect on the quality of life of the patients. By delaying the diagnosis, the disease remains untreated and patients are left for a long time in uncertainty about the cause of their symptoms. The later the diagnosis is made, the more pain patients suffer, the more their symptoms restrict them in their daily activities and the more psychological problems they develop. It has also been shown that patients who wait a long time for a diagnosis are more likely to become so disabled by the condition that they are no longer able to work.

Disturbing

Researcher Van der Kloot: ‘SCCH is a rare disease and it is therefore understandable that many doctors fail to recognise it. However, it is disturbing that a large proportion of SCCH patients suffer more as a consequence of the disease than they would have if the right diagnosis had been made earlier. And this is in spite of the fact that it is a very easy disease to diagnose. The symptoms are very typical, if the doctor has even a suspicion of what it is, he can arrive at a diagnosis in a very short space of time.' In the opinion of the researchers, if the diagnosis time for SCCH patients is to be reduced, GPs, physiotherapists and specialists have to be made more aware of the condition.  

Link

SCCH patient association

(2 February 2010)