Client L following a delay in diagnosing and treating genetic haemochromatosis (GH)

Mr L’s case arises out of a delay in diagnosing and treating genetic haemochromatosis (GH), a condition in which elevated ferritin levels lead to iron deposition in the tissues of organs and joints causing serious, potentially life threatening damage. Treatment is by simple venesection to maintain normal iron levels.

As a result of the delay Mr L suffered liver cirrhosis, oesophageal varices and joint damage with significant disability. Breach of duty and causation in respect of the liver damage and oesophageal varices was eventually admitted but the major issue (and value) in dispute was the cause and progression of the arthritis.

This case was very specific in that at the time of the breach there were no arthritic symptoms at all but because there was clearly evidence of liver damage from iron deposition, it was considered likely that iron deposition would have occurred in the joints as well. Mr L’s case was that provided the accumulation of iron is halted before the symptoms develop, the onset will be delayed and the significant delay in providing treatment in his case had led to an acceleration of his osteoarthritis by around 15 years. The Defendant argued that it would have progressed at the same rate and severity notwithstanding earlier treatment.

The scientific literature concerning GH arthritis was complicated, equivocal and more current research at the time had raised the possibility of an alternative cause of the joint damage unrelated to the iron deposition.  However, as this is a familial condition, Mr L’s brother was tested and also diagnosed with the same gene mutation of GH, his ferritin level was raised but was considerably lower than Mr L’s had been, possibly as a result of being a regular blood donor. He had normal liver function tests and was asymptomatic. He subsequently had regular venesection to reduce and maintain normal iron levels and seven years on remained free of any joint or organ damage. This helped to support the Claimant’s case that it is the iron irritation that causes the damage rather than the underlying connection to the gene itself and further helped to support that the amount and duration of iron excess before treatment likely affects the onset and speed of progression.

The claim was settled three months before trial.