Where does that come from? A regular column that examines the history and origins of a particular medical topic.

Grandson of a musically talented grandfather and son of a passable singer, Beethoven was born in Bonn, Germany in December 1770. He grew up to be ugly; in more recent times he would possibly have been a candidate for cosmetic surgery. He had a large head and a severely scarred and reddened face. He also had an aggressive, combative personality and was capable of spectacular rages - and he harboured grudges. For example, he changed the dedication of his third symphony from Bonaparte to Eroica when he heard Napoleon had declared himself Emperor of France.

Perhaps due to his lack of social graces, the composer never married, though he was fond of women. He was a friend of Goethe and as a youth had, in what must have been seminal moment in musical history, once played the piano for Mozart.

But it is his medical history, especially that of his deafness and abdominal symptoms, which are of interest to us.

After having particularly good hearing as a young man, Beethoven first noticed some deafness in 1796, but not until 1801 was it troublesome enough for him to admit it to friends. It resulted in him avoiding social functions and brought on a feeling of isolation. The progression was inexorable until by the age of 45 he was ‘stone' deaf.

It started in the left ear and at first was associated with high-pitched sounds. The accompanying tinnitus, or noises in the ear, was severe enough for him to contemplate suicide, as noted in a letter to his brother, written but never dispatched and found in his effects after death. Extraneous loud noises were especially troublesome and famously he covered his ears with cushions during Napoleon's bombardment of Vienna in 1809.

He used a variety of ear trumpets, but to no effect; many are now in his museum in Bonn. Occasionally he held a stick between his teeth to convey vibrations. He last played in public in 1814, and from 1817 onwards communicated by writing in his well-known conversation books, some of which survive.

The differential diagnosis has included otosclerosis (thickening of the bones in the ear), meningovascular syphilis, chronic ear infection and auditory nerve degeneration caused by its constriction due to Paget's disease, an increased blood flow in the bone matrix causing thickening in the bones. He would seem young to have had Paget's, but it can occasionally begin in the 20s, and he did have a large head typical of the disease. Further, at autopsy his skull was found to be thickened and abnormally vascular which is also typical of the malady.

The popular diagnosis has been regarded as a mixture of otosclerosis and Paget's-induced nerve deafness. What should have clinched the pathology were the post-mortem findings. Beethoven himself in the so-called Heiligenstadt Testament urged doctors to do an autopsy for the benefit of future generations.

The composer died in 1827 and a post-mortem was carried out by, rather incredibly, a pathologist called Wagner. With 10,000 people attending his funeral, Beethoven was as famous during his life as he is now, so the results of the pathology report were eagerly awaited. Wagner extracted the tiny bones, or ossicles, from the inner ear, put them aside in the Vienna Anatomy Institute for detailed examination later, but from that day to this they have never been seen again!

In 1863, when his grave fell into disrepair, the body was exhumed. Predictably, no ossicles were found but the right temporal bone over the ear was discovered to be thickened. In 1888 the maestro was dug up again - same result. The remains were then reinterred with those of his friend Franz Schubert, who had died 20 months after Beethoven.

Beethoven's recurrent abdominal colic and diarrhoea with occasional bowel bleeding troubled him on and off throughout his life from the age of 19. As well, the composer had intermittent attacks of depression, bronchitis, and rheumatic joint pains which were bad enough to send him to bed for weeks on end. In 1821 he had a prolonged attack of jaundice, which recurred four months before he died.

At autopsy the abdominal cavity contained 8 litres of rust-coloured fluid, the liver was leathery and shrunk to half its normal size, greenish in colour and covered in bean-sized nodules. Sounds horrible!

Some think Beethoven had cirrhosis, perhaps as part of long-term chronic active hepatitis but, although he was fond of a drink, the findings were not the pathology associated with alcohol or syphilis.

The spleen was twice its normal size and the pancreas was enlarged and hard with a dilated main duct suggestive of chronic pancreatitis, perhaps associated with his alcohol consumption. The kidney contained chalky calculi considered to be typical of renal papular necrosis and not renal stones.

The composer's face was said to have' the terrifying countenance of a leper' and was reddened and lumpy with punched out scars. There was a marked scar on the right side of the nose and the chin, thought to be more consistent with the chronic, disfiguring and generalised disease ‘systemic lupus erythematosus' rather than, say, smallpox. Such a conclusion would fit with a number of his other afflictions.

Other diagnoses have been forwarded to explain Beethoven's plethora of signs and symptoms: sarcoidosis and Whipple's disease, for instance, both rare. The former, a type of cancer, is very uncommon in men, unlike the latter which is merely uncommon and in which there is an intestinal malabsorption with diarrhoea, joint pains, enlarged spleen, skin problems, pleurisy and occasionally behavioural problems. But ‘commonest things are commonest' and it is thought these are unlikely diagnoses.

In 1995 a lock of Beethoven's hair was examined. On a tiny sample of eight hairs tests for opiates were negative, no mercury was found, but lead levels were elevated 42 times above what is regarded as normal, raising the distinct possibility of chronic lead poisoning accounting for all symptoms. In the early 19th century the source of the metallic element could have been, for instance, glassware or the Viennese water pipes. As there were no controls from 19th century Vienna, the significance is unsure.

So an unequivocal diagnosis in this great man is still not possible.

Better we enjoy Ludwig van Beethoven's sublime genius than agonise over his presumed pathology.

ACSM #39