25. Before we decide if we should conduct a detailed investigation of a complaint, we look at whether there are signs the organisation has got something wrong. We do this by comparing what should have happened with what did happen. We have done this and have not found any indications that something has gone wrong. We will explain the reasons for our decision in more detail below.
Failure to diagnose amyloidosis
26. Mr L complains the Trust failed to diagnose amyloidosis when his daughter, Ms N displayed symptoms for this which included feeling weak, pain, lethargy, loss of appetite, thrush, carpel tunnel and weight loss over a significant period.
27. As we have explained above, we can see from Ms N’s records the Trust formally diagnosed Ms N with amyloidosis shortly before her death in May 2022.
28. In response to Mr L’s complaint, the Trust said Ms N had several medical problems which accounted for her symptoms. These included regional pain syndrome following a hysterectomy in 2008, a hernia repair in 2009 and knee surgery 2011. The Trust said Ms N also had chronic pancreatitis identified in 2016 which may have contributed to her stomach pain. It says CT scans taken in 2019, 2020 and 2021 did not show any changes with Ms N’s abnormal protein which would have indicated it needed to carry out further investigations.
29. The Trust first reviewed Ms N in 2011 to investigate the antibody protein which her GP had identified. As we have said in paragraphs 12 to 14, the Trust determined no further investigations were needed. The Trust explained finding abnormal antibodies such as Ms N had, are very common.
30. The Trust concluded it did not have an earlier opportunity to diagnose Ms N sooner. It said Ms N’s amyloidosis was first considered following an abnormal echocardiogram it obtained in March 2022 to investigate her heart failure. The Trust then requested further bone investigations, including a biopsy for Ms N to confirm this.
31. Guidelines on the management of amyloidosis explain a high level of suspicion is necessary when considering amyloidosis in patients. This is because the disease can impact many different organs, making it difficult to identify without careful consideration. They also explain amyloidosis is a disease that happens gradually and emphasise the need to take a biopsy of the affected organ. They say obtaining an echocardiography (the process of using ultrasound waves to create images of the heart) is required to assess amyloidosis. They explain given the rarity of the condition it may go unrecognised or not be adequately assessed.
32. The guidelines acknowledge carpal tunnel syndrome, feeling very tired and losing weight are common early signs of amyloidosis. However, they explain clinicians are rarely able to diagnose the condition until symptoms affecting specific organs appear.
33. Ms N’s records show the Trust’s haematology department last reviewed her in November 2021, 4 months prior to when it first started to consider she had amyloidosis.
34. Ms N’s medical records from November 2021 show her blood results were not concerning and her monoclonal paraproteinemia was described as becoming smaller and less visible. The consultant haematologist noted this was likely to disappear and planned to review Ms N again in 12 months’ time.
35. Our haematology adviser told us there was no indication for the Trust to consider amyloidosis at this time. They said this was because Ms N’s main symptoms were related to her nervous system and together with results of investigations done by other teams, such as CT scans, did not raise concerns she had amyloidosis.
36. Ms N’s records also show in December 2021 the Trust obtained an echocardiogram. As we have said in paragraph 31, this is one of the tests used to diagnose amyloidosis. Our haematology adviser reviewed this report and told us this did not suggest Ms N had amyloidosis at that time. Given this evidence, we have not gone into details about symptoms Ms N had before then.
37. In January 2022 Ms N returned to the Trust’s emergency department with symptoms of chest pain. The Trust carried out an ECG (a test used to monitor heart activity). Ms N’s records show she self-discharged before the Trust could complete treatment but returned some days later as her symptoms of chest and stomach pain persisted.
38. Ms N was reviewed by the Trust’s cardiology department in late January 2022. It carried out investigations into her heart and determined angina (a type of pain when your heart does not get enough oxygen rich blood) was not the cause of her chest pain. The consultant cardiologist determined no further input was required from the department and Ms N was discharged with a plan to attend the pain clinic.
39. In late February 2022, Ms N’s GP referred her back to the Trust’s cardiology department as she developed new symptoms which included breathlessness, excess fluid and a raised BNP (B-type natriuretic peptide, a protein in your blood).
40. In early March 2022, Trust’s cardiology department reviewed Ms N again. It carried out a further echocardiogram for Ms N and noted there were signs the left ventricle of her heart (the part which pumps oxygen out to the body) had thickened significantly. It noted the pressure inside of Ms N’s ventricle was higher than normal when it filled with blood.
41. Upon review of Ms N’s records, we consider this the first opportunity for the Trust to suspect Ms N had amyloidosis. This is because as our gastroenterology adviser explained, in March 2022 Ms N’s results indicated she may have had possible cardiac amyloidosis. We accept this advice and agree this was the first opportunity the Trust should have suspected Ms N may have had amyloidosis. We will explain this in more detail below.
42. The consultant cardiologist noted there were signs of heart failure and requested a cardiac MRI scan (a medical test that creates detailed images of the inside of your body) to diagnose Ms N’s condition. The cardiologist remarked a bone scan would be needed if the MRI suggested amyloidosis.
43. Unfortunately, whilst she was waiting for an MRI appointment, Ms N attended the Trust in late April 2022 due to her worsening health and stomach pain. As we have explained in paragraphs 16 to 19, it was during this admission the Trust identified Ms N had amyloidosis after it obtained a further CT scan and a gastric biopsy to investigate Ms N’s symptoms.
44. Sadly, in May 2022 we can see from Ms N’s records, she was identified as having multiorgan failure due to amyloidosis.
45. We can understand why Mr L is concerned the Trust failed to diagnose Ms N sooner when she had attended and undergone regular investigations from 2011 when monoclonal paraproteinemia was first identified. We can also see why it would be concerning to Mr L that his daughter had persisting symptoms of amyloidosis which included carpal tunnel, pain and weight loss for some time before this was diagnosed.
46. Our haematology adviser explained monoclonal paraproteinemia (also known as MGUS, which was the abnormal protein Ms N had), is a common condition which does not show any symptoms and rarely develops into amyloidosis. They explained Ms N had lots of health issues which would have made it extremely difficult to see any symptoms that may have indicated she had possible amyloidosis until 2022, especially given Ms N’s normal echocardiogram in December 2021. Our haematology adviser also told us amyloidosis is not routinely looked for in carpal tunnel biopsies or during surgeries.
47. Our gastroenterology adviser also reiterated this advice and explained when there were signs that Ms N had possible cardiac amyloidosis the Trust identified and managed these quickly, with appropriate input from a haematologist. We accept this view as we can see the Trust acted in line with guidelines on the management of amyloidosis as it obtained a biopsy as soon as it identified signs of possible amyloidosis (as we explained in paragraph 18).
48. Considering the views of our advisers and the guidance we have seen; we consider the Trust acted in line with guidelines on the management of amyloidosis when it assessed Ms N’s symptoms and diagnosed her. This is because as the guidance we have referred to explains, there are known difficulties with identifying symptoms of amyloidosis which we accept was unfortunately the case for Ms N.
49. The guidance also explains symptoms are typically hard to diagnose and amyloidosis is usually only identified when it affects specific organs, which as we have identified, is what happened in Ms N’s case when her heart condition declined. For these reasons, we have not found any indications of failings in relation to the timing of the Trust’s diagnosis of Ms N’s amyloidosis.
Failure to refer for bone marrow investigations
50. Mr L complains the Trust failed to refer Ms N for bone marrow investigations on a yearly basis after 2011 when Ms N’s GP identified she had an abnormal protein in her blood. Mr L told us he was concerned the Trust took a ‘watch and wait’ approach when it came to his daughter’s health.
51. In its response to Mr L, the Trust said there was no indication for it to refer Ms N for bone marrow investigations in 2011 or thereafter. It said if it had carried out bone marrow investigations any earlier, they may have provided false reassurance and would not have given any indication of amyloidosis developing 11 years after.
52. Guidelines on the management of amyloidosis explain that bone marrow investigations, such as a bone marrow biopsies are recommended at diagnosis.
53. Our haematology adviser explained there are no other specific guidelines that would apply to this case. Our adviser explained this is an exceptionally rare condition with non-specific symptoms, meaning there are other much more common explanations of such symptoms Ms N had, including those described by Mr L.
54. Our haematology adviser also told us because of how rare amyloidosis is, it is not normal practice to screen patients for the condition routinely. They explained repeat bone marrow biopsies are only carried out when there are significant changes in a patient's paraprotein levels, or symptoms of concern for myeloma. We have carefully reviewed Ms N’s records and can see this was not the case for her.
55. As we have described in the background to this case, and in paragraphs 34 and 37, the Trust reviewed Ms N regularly and monitored her paraprotein levels. In late 2021 the Trust identified her levels had improved and said her abnormal protein may even disappear. It planned to review Ms N again in 12 months.
56. We have carefully reviewed Ms N’s medical records and taking into account the views of our haematology adviser, have not identified any indication the Trust should have referred her for bone marrow investigations prior to 2022 when signs of amyloidosis became apparent. This means we see no indication of a failing here.
57. We are very sorry to hear of how distressing this time was for Mr L and his family to see Ms N become so unwell. We hope our decision provides Mr L with assurance about what happened with his daughter’s care.