BRITISH MEDICAL JOURNAL
4 FEBRUARY 1978
peace of mind. Such a policy must not, however, be adopted in prepubertal girls. Anxious parents commonly bring a girl aged between 8 and 12 to a breast clinic with a 1-2 cm discoid mass beneath one nipple. The mass is due to asymmetrical development of the breast disc of early puberty. Surgical interference in such a case is a catastrophe: removal of the breast disc at this stage will inevitably mean complete failure of development of the breast on that side. Haagensen, C D, in Diseases of the Breast, p 654. Philadelphia, Saunders, 1971. of Surgery, Stone, A M, Shenker, I R, and McCarthy, K, 1977, 134, 275. 3 Teasdale, C, and Baum, M, Lancet, 1976, 2, 627. 2
American_Journal
American tests of medical competence Four years ago pressure from the American public (and from the commercial insurance carriers, who are financially responsible for the greater part of medical care in the United States) led to the introduction of the law on professional services review organisations, the medical audit groups that impose minimum standards of care. At about the same time in professional circles the concept of hiring a medical diploma -rather than having it for life-was gaining credence, at least for postgraduates. In 1973 the American Board of Medical Specialties took a policy decision that all its constituent boards should carry out some kind of regular recertification of accredited specialists. Some boards have been more active than others in pursuing quality control by recertification, and some are finding that identifying obsolete doctors is not as easy as sticking an expiry date label on a packet of cheese or a roll of film. In a thoughtful article in the Journal of Allergy and Clinical Immunology' J E Salvaggio has recently set out the problems faced by his board in the absence of fully developed "precise workable examinations for the assessment of clinical competence." At present the board relies on a multiple-choice test of factual knowledge, which is case orientated and tied closely to its own self-assessment programme. This is the pattern set by the American Board of Internal Medicine. Salvaggio recognises the limitations of a purely cognitive test as a guarantee of competence and his conclusion that it needs to be supplemented somehow with tests of performance recalls the guidelines so ably set out by the Committee on Goals and Priorities of the National Board of Medical Examiners in 1973.2 On the other hand, the bedside clinical test has been viewed with little enthusiasm in the United States for several years-though this disenchantment may be fading, if others follow the trend set by the National Board, which has incorporated an evaluation of a candidate's ability in performing physical examination into the National Certifying Examination for Primary Care Physicians' Assistants.3 Other factors need to be taken into account, too: evaluating clinical competence becomes more difficult as a doctor gets older; the educational message of self-assessment programmes will reach only those who are prepared to receive it; the design of continuing medical educational exercises has been seriously criticised4; and there is growing recognition that evaluating some current medical practice must take account of the activities of a group rather than that of an individual.
261
Whatever tests of competence are used, there remains the difficult question of doctors' "attitudes," which are valued as highly as technical ability by many patients. Attitudes can be measured by questionnaires, scales, and simulated patients,5 but more conventional medical audit6 at present finds more supporters, possibly because it can incorporate some idea of the outcome of a patient's treatment. How far do these recertification problems have any importance for Britain, where even a certification procedure has not yet been agreed and the postgraduate examinations are all threshold tests at one level or another and not intended to signify the completion of training in a specialty ? It is true, as has been remarked by Forsyth,7 that criticism of the National Health Service comes more from those providing the service than from those using it, but recent parliamentary events8 have shown more than a stir of lay interest in how we perform. Doctors in Britain should take note of the difficulties being faced by their American colleagues and be ready to grapple with them should a move towards recertification develop here. The crucial point is that evaluation of medical competence must remain a matter to be developed by the profession, and not imposed by the Government. Salvaggio, J E, Journal of Allergy and Clinical Immunology, 1977, 60, 153. Evaluation in the Continuum of Medical Education. Philadelphia, National Board of Medical Examiners, 1973. 3 National Board of Medical Examiners Annual Report. Philadelphia, National Board of Medical Examiners, 1975. 4 Chapman, C B, in Anglo-American Conference on Continuing Medical Education, eds C L Joiner and G E Paget. London, Royal Society of Medicine, 1974. 5 Fleming, P R, et al, Examinations in Medicine. Edinburgh, Churchill Livingstone, 1976. 6 Sanazaro, P J, British Medical_Journal, 1974, 1, 271. 7 Forsyth, G, in Health Services Prospects. An International Survey, eds I D Wilson and G McLachlan. London, Lancet and Nuffield Provincial Hospitals Trust, 1973. 8 First Report from the Select Committee on the Parliamentary Commissioner for Administration: Independent Review of Hospital Complaints in the National Health Service, House of Commons Paper 45. London, HMSO, 1977. 1
2
Cardiac involvement in Friedreich's ataxia Friedreich's ataxia is a familial neuromuscular disorder characterised by spinocerebellar ataxia, loss of deep tendon reflexes, and skeletal deformities such as kyphoscoliosis, pes cavus, hemivertebrae, and hallux valgus. The association with cardiac disease was already recognised by Friedreich: three of his six original cases described in 18631 showed severe fatty degeneration of the heart at necropsy. Since then cardiovascular lesions have repeatedly been reported. Indeed, it has been suggested that Friedreich's ataxia is a neurocardiac disease.2 Symptoms referable to the heart have been found in half of the patients,3 but the incidence has varied with the diagnostic criteria used by different investigators. Electrocardiographic changes (not necessarily associated with cardiac symptoms) occur in over 90% of patients with the disease.4 Clinically, cardiac symptoms may on rare occasions precede the neurological manifestations. Generally the cardiac symptoms are those of progressive heart failure, together with palpitations, retrosternal pain, and angina.5 Electrocardiographic changes include arrhythmias changes of repolarisation with Q waves in leads I, II, aVF,
262
V5 and V6, and various forms of heart block.4 6 7 At necropsy the heart is overweight and may reach as much as 730 g.8 The chambers are dilated, and thrombus is superimposed on thickened endocardium in about one-third of the hearts examined. Histologically, fibrous replacement of the myocardium is widespread, particularly in the subendocardial and the subepicardial regions. Fatty infiltration may sometimes be prominent.8 9 The myocardial fibres are hypertrophied and usually regularly arranged. If dilatation is severe the cell diameter may be normal, because of stretching. The coronary arteries are often widely patent, but may contain flecks of atheroma. The heart valves are usually unaffected, and the conducting tissue is often normal,8 though abnormal changes have been reported) 0 More recently, attention has been drawn to the clinical manifestations of hypertrophic cardiomyopathy in patients with Friedreich's ataxia.3 11-14 The development of a cardiomyopathy has been confirmed by cardiac catheterisation and angiographyll-'3 and echocardiography,314 but so far not pathologically. In Canadian series of 11 patients3 two showed typical clinical evidence of hypertrophic cardiomyopathy while in two more there were characteristic echocardiographic changes. The ratio of septal to posterior wall thickness was increased, varying between 1l5 and 2*3. That alone would not be diagnostic of hypertrophic cardiomyopathy (such changes have been described in congenital heart disease) and in fact histological changes suggestive of hypertrophic cardiomyopathy could be shown in only two of eight patients examined at necropsy."5 Furthermore, follow-up in many cases has shown that asymmetric septal thickening may resolve.16 Nevertheless, in the four Canadian patients in whom hypertrophic cardiomyopathy was diagnosed there was other suggestive evidence, including characteristic motion of the anterior eles,t of the mitral valve, decreased excursion and systolic thickening of the septum, and increased systolic thickening of the left ventricular free wall. Numerous family studies have been undertake in patients with Friedreich's ataxiah3 17 and inheritance is most commonly ccasionally sex linked.19 The autosomal recessive18 or ve two sexes are about equally affected. The high incidence of cardiac lesions has led to suggestions that the term Friedreich's ataxia should be replaced by Friedreich's disease.'7 As yet, however, we cannot explain the mechanism of the association of cardiac abnormalities with the musculoskeletal lesions. Possibly a single common gene might be responsible, affecting skeletal and cardiac muscle.20 21 It seems unlikely that small vessel disease would be responsible for the myocardial changes, since pathological studies have shown that only9so. of vessels are narrowed sufficiently to have possibly caused fibrosis. Attempts to show abnormal tryptophan metabolism have yielded conflicting results.22 23 The prognosis of patients with the syndrome is poor: 56% in one series died from heart failure8 and 170 had cardiac symptoms before death. It is, indeed, the cardiac disability that determines the ultimate outlook for these patients. In view of the evidence that hypertrophic obstructive cardiomyopathy may be associated with Friedreich's ataxia in a substantial number of cases, its early recognition may be of particular importance, since treatment may influence the prognosis favourably. Friedreich, N, Virchows Archivfeurpathologische Anatomien und Physiologie, 1863, 26, 391 and 433; 27, 1. 2 Hartman, J M, and Booth, R W, American Heartaournal, 1960, 60, 716. Smith, E R, et al, American Heart gournal, 1977, 94, 428. mThorenc, Acta Paediatrica, 1964, 53, suppl 153. a Schilero, A J, Antzis, E, and Dunn, J, American Heart Journal, 1952, 44, 805.
BRITISH MEDICAL JOURNAL
4 FEBRUARY 1978
6
Heck, A F, Neurology (Minneapolis), 1963, 13, 587. 7 Emanuel, R, Proceedings of the Royal Society of Medicine, 1972, 65, 939. 8 Hewer, R L, British Heart Journal, 1969, 31, 5. 9 Olsen, E G J, Proceedings of the Royal Society of Medicine, 1972, 65, 941. 10 James, T N, and Fisch, C, American Heart Journal, 1963, 66, 164. 1 Boehm, T M, Dickerson, R B, and Glasser, S P, American Journal of the Medical Sciences, 1970, 260, 279. 12 Gach, J V, Adriange, M, and Franck, G, American Journal of Cardiology, 1971, 27, 436. 13 Ruschhaupt, D G, Thilenius, 0 G, and Cassels, D E, American Heart journal, 1972, 84, 95. 14 Van der Hauwaert, L G, and Dumoulin, M, British Heart Journal, 1976, 38, 1291. 15 Maron, B J, et al, Circulation, 1975, 52, 926. 16 Larter, W E, et al, Circulation, 1976, 53, 19. 17 O'Brien, E T, Dajee, H, and Ward, 0 C, European3Journal of Cardiology, 1977, 6, 15. 18 Pratt, R T C, The Genetics of Neurological Disorders, p 34. London, Oxford University Press, 1967. 19 Turner, E V, and Roberts, E, Journal of Nervous and Mental Diseases 1938, 87, 74. 20 Smith, E R, et al, Clinical Research, 1975, 23, 208A. 21 Smith, E R, et al, Annals of Internal Medicine, 1976, 85, 566. 22 Fischl, J, and Rabiah, S, Clinical Chemistry, 1964, 10, 281. 23 Robinson, N, Curzon, G, and Theaker, P, Journal of Clinical Pathology, 1965, 18, 797.
Treatment of arthritis associated with psoriasis The arthritis associated with psoriasis is, like rheumatoid arthritis, extremely variable in its pattern. Some patients remit completely; others have remissions and relapses; and fortunately only a few pursue an unrelenting course. Though there is no specific treatment for the disease, many drugs can alleviate symptoms, while others can apparently control the course of the illness. The diagnosis of psoriatic arthropathy should be borne in mind for any patient presenting with polyarthritis, for joint manifestations may appear before the skin lesions. Recognising psoriatic arthritis is particularly important, because antimalarials (as used in the treatment of rheumatoid arthritis) may produce exfoliative dermatitis in patients with psoriasis. Direct questioning is essential: the patient may have had an attack of psoriasis years before and not volunteered this during routine history taking. As with rheumatoid arthritis, educating patients about their disease is of supreme importance. Nearly all patients with arthritis are concerned not only about the present but about the future. The patient and his family should be told that some cases of psoriatic arthritis remit completely, that nearly every patient can be helped, and that it is rare for any patient to become completely crippled. Treatment aims at maintaining the patient's confidence, easing his pain, and preserving or restoring function to the affected joints. For most mild cases simple analgesics such as aspirin or the non-steroidal anti-inflammatory drugs are helpful; it is extraordinary how variable is the response of individual patients to apparently similar pharmacological preparations. Side effects on the gut and the bone marrow may, however, present problems with phenylbutazone and indomethacin. A small dose of a corticosteroid-2.5 mg or 5 mg of prednisolone at night-may be helpful if early morning stiffness is a problem. Local steroid injections may be useful provided there are no skin lesions or psoriasis near the affected joint, when the injection may lead to infection of the joint. Simple physical methods such as heat and ice may help and do not make the psoriasis worse.
4 FEBRUARY 1978
peace of mind. Such a policy must not, however, be adopted in prepubertal girls. Anxious parents commonly bring a girl aged between 8 and 12 to a breast clinic with a 1-2 cm discoid mass beneath one nipple. The mass is due to asymmetrical development of the breast disc of early puberty. Surgical interference in such a case is a catastrophe: removal of the breast disc at this stage will inevitably mean complete failure of development of the breast on that side. Haagensen, C D, in Diseases of the Breast, p 654. Philadelphia, Saunders, 1971. of Surgery, Stone, A M, Shenker, I R, and McCarthy, K, 1977, 134, 275. 3 Teasdale, C, and Baum, M, Lancet, 1976, 2, 627. 2
American_Journal
American tests of medical competence Four years ago pressure from the American public (and from the commercial insurance carriers, who are financially responsible for the greater part of medical care in the United States) led to the introduction of the law on professional services review organisations, the medical audit groups that impose minimum standards of care. At about the same time in professional circles the concept of hiring a medical diploma -rather than having it for life-was gaining credence, at least for postgraduates. In 1973 the American Board of Medical Specialties took a policy decision that all its constituent boards should carry out some kind of regular recertification of accredited specialists. Some boards have been more active than others in pursuing quality control by recertification, and some are finding that identifying obsolete doctors is not as easy as sticking an expiry date label on a packet of cheese or a roll of film. In a thoughtful article in the Journal of Allergy and Clinical Immunology' J E Salvaggio has recently set out the problems faced by his board in the absence of fully developed "precise workable examinations for the assessment of clinical competence." At present the board relies on a multiple-choice test of factual knowledge, which is case orientated and tied closely to its own self-assessment programme. This is the pattern set by the American Board of Internal Medicine. Salvaggio recognises the limitations of a purely cognitive test as a guarantee of competence and his conclusion that it needs to be supplemented somehow with tests of performance recalls the guidelines so ably set out by the Committee on Goals and Priorities of the National Board of Medical Examiners in 1973.2 On the other hand, the bedside clinical test has been viewed with little enthusiasm in the United States for several years-though this disenchantment may be fading, if others follow the trend set by the National Board, which has incorporated an evaluation of a candidate's ability in performing physical examination into the National Certifying Examination for Primary Care Physicians' Assistants.3 Other factors need to be taken into account, too: evaluating clinical competence becomes more difficult as a doctor gets older; the educational message of self-assessment programmes will reach only those who are prepared to receive it; the design of continuing medical educational exercises has been seriously criticised4; and there is growing recognition that evaluating some current medical practice must take account of the activities of a group rather than that of an individual.
261
Whatever tests of competence are used, there remains the difficult question of doctors' "attitudes," which are valued as highly as technical ability by many patients. Attitudes can be measured by questionnaires, scales, and simulated patients,5 but more conventional medical audit6 at present finds more supporters, possibly because it can incorporate some idea of the outcome of a patient's treatment. How far do these recertification problems have any importance for Britain, where even a certification procedure has not yet been agreed and the postgraduate examinations are all threshold tests at one level or another and not intended to signify the completion of training in a specialty ? It is true, as has been remarked by Forsyth,7 that criticism of the National Health Service comes more from those providing the service than from those using it, but recent parliamentary events8 have shown more than a stir of lay interest in how we perform. Doctors in Britain should take note of the difficulties being faced by their American colleagues and be ready to grapple with them should a move towards recertification develop here. The crucial point is that evaluation of medical competence must remain a matter to be developed by the profession, and not imposed by the Government. Salvaggio, J E, Journal of Allergy and Clinical Immunology, 1977, 60, 153. Evaluation in the Continuum of Medical Education. Philadelphia, National Board of Medical Examiners, 1973. 3 National Board of Medical Examiners Annual Report. Philadelphia, National Board of Medical Examiners, 1975. 4 Chapman, C B, in Anglo-American Conference on Continuing Medical Education, eds C L Joiner and G E Paget. London, Royal Society of Medicine, 1974. 5 Fleming, P R, et al, Examinations in Medicine. Edinburgh, Churchill Livingstone, 1976. 6 Sanazaro, P J, British Medical_Journal, 1974, 1, 271. 7 Forsyth, G, in Health Services Prospects. An International Survey, eds I D Wilson and G McLachlan. London, Lancet and Nuffield Provincial Hospitals Trust, 1973. 8 First Report from the Select Committee on the Parliamentary Commissioner for Administration: Independent Review of Hospital Complaints in the National Health Service, House of Commons Paper 45. London, HMSO, 1977. 1
2
Cardiac involvement in Friedreich's ataxia Friedreich's ataxia is a familial neuromuscular disorder characterised by spinocerebellar ataxia, loss of deep tendon reflexes, and skeletal deformities such as kyphoscoliosis, pes cavus, hemivertebrae, and hallux valgus. The association with cardiac disease was already recognised by Friedreich: three of his six original cases described in 18631 showed severe fatty degeneration of the heart at necropsy. Since then cardiovascular lesions have repeatedly been reported. Indeed, it has been suggested that Friedreich's ataxia is a neurocardiac disease.2 Symptoms referable to the heart have been found in half of the patients,3 but the incidence has varied with the diagnostic criteria used by different investigators. Electrocardiographic changes (not necessarily associated with cardiac symptoms) occur in over 90% of patients with the disease.4 Clinically, cardiac symptoms may on rare occasions precede the neurological manifestations. Generally the cardiac symptoms are those of progressive heart failure, together with palpitations, retrosternal pain, and angina.5 Electrocardiographic changes include arrhythmias changes of repolarisation with Q waves in leads I, II, aVF,
262
V5 and V6, and various forms of heart block.4 6 7 At necropsy the heart is overweight and may reach as much as 730 g.8 The chambers are dilated, and thrombus is superimposed on thickened endocardium in about one-third of the hearts examined. Histologically, fibrous replacement of the myocardium is widespread, particularly in the subendocardial and the subepicardial regions. Fatty infiltration may sometimes be prominent.8 9 The myocardial fibres are hypertrophied and usually regularly arranged. If dilatation is severe the cell diameter may be normal, because of stretching. The coronary arteries are often widely patent, but may contain flecks of atheroma. The heart valves are usually unaffected, and the conducting tissue is often normal,8 though abnormal changes have been reported) 0 More recently, attention has been drawn to the clinical manifestations of hypertrophic cardiomyopathy in patients with Friedreich's ataxia.3 11-14 The development of a cardiomyopathy has been confirmed by cardiac catheterisation and angiographyll-'3 and echocardiography,314 but so far not pathologically. In Canadian series of 11 patients3 two showed typical clinical evidence of hypertrophic cardiomyopathy while in two more there were characteristic echocardiographic changes. The ratio of septal to posterior wall thickness was increased, varying between 1l5 and 2*3. That alone would not be diagnostic of hypertrophic cardiomyopathy (such changes have been described in congenital heart disease) and in fact histological changes suggestive of hypertrophic cardiomyopathy could be shown in only two of eight patients examined at necropsy."5 Furthermore, follow-up in many cases has shown that asymmetric septal thickening may resolve.16 Nevertheless, in the four Canadian patients in whom hypertrophic cardiomyopathy was diagnosed there was other suggestive evidence, including characteristic motion of the anterior eles,t of the mitral valve, decreased excursion and systolic thickening of the septum, and increased systolic thickening of the left ventricular free wall. Numerous family studies have been undertake in patients with Friedreich's ataxiah3 17 and inheritance is most commonly ccasionally sex linked.19 The autosomal recessive18 or ve two sexes are about equally affected. The high incidence of cardiac lesions has led to suggestions that the term Friedreich's ataxia should be replaced by Friedreich's disease.'7 As yet, however, we cannot explain the mechanism of the association of cardiac abnormalities with the musculoskeletal lesions. Possibly a single common gene might be responsible, affecting skeletal and cardiac muscle.20 21 It seems unlikely that small vessel disease would be responsible for the myocardial changes, since pathological studies have shown that only9so. of vessels are narrowed sufficiently to have possibly caused fibrosis. Attempts to show abnormal tryptophan metabolism have yielded conflicting results.22 23 The prognosis of patients with the syndrome is poor: 56% in one series died from heart failure8 and 170 had cardiac symptoms before death. It is, indeed, the cardiac disability that determines the ultimate outlook for these patients. In view of the evidence that hypertrophic obstructive cardiomyopathy may be associated with Friedreich's ataxia in a substantial number of cases, its early recognition may be of particular importance, since treatment may influence the prognosis favourably. Friedreich, N, Virchows Archivfeurpathologische Anatomien und Physiologie, 1863, 26, 391 and 433; 27, 1. 2 Hartman, J M, and Booth, R W, American Heartaournal, 1960, 60, 716. Smith, E R, et al, American Heart gournal, 1977, 94, 428. mThorenc, Acta Paediatrica, 1964, 53, suppl 153. a Schilero, A J, Antzis, E, and Dunn, J, American Heart Journal, 1952, 44, 805.
BRITISH MEDICAL JOURNAL
4 FEBRUARY 1978
6
Heck, A F, Neurology (Minneapolis), 1963, 13, 587. 7 Emanuel, R, Proceedings of the Royal Society of Medicine, 1972, 65, 939. 8 Hewer, R L, British Heart Journal, 1969, 31, 5. 9 Olsen, E G J, Proceedings of the Royal Society of Medicine, 1972, 65, 941. 10 James, T N, and Fisch, C, American Heart Journal, 1963, 66, 164. 1 Boehm, T M, Dickerson, R B, and Glasser, S P, American Journal of the Medical Sciences, 1970, 260, 279. 12 Gach, J V, Adriange, M, and Franck, G, American Journal of Cardiology, 1971, 27, 436. 13 Ruschhaupt, D G, Thilenius, 0 G, and Cassels, D E, American Heart journal, 1972, 84, 95. 14 Van der Hauwaert, L G, and Dumoulin, M, British Heart Journal, 1976, 38, 1291. 15 Maron, B J, et al, Circulation, 1975, 52, 926. 16 Larter, W E, et al, Circulation, 1976, 53, 19. 17 O'Brien, E T, Dajee, H, and Ward, 0 C, European3Journal of Cardiology, 1977, 6, 15. 18 Pratt, R T C, The Genetics of Neurological Disorders, p 34. London, Oxford University Press, 1967. 19 Turner, E V, and Roberts, E, Journal of Nervous and Mental Diseases 1938, 87, 74. 20 Smith, E R, et al, Clinical Research, 1975, 23, 208A. 21 Smith, E R, et al, Annals of Internal Medicine, 1976, 85, 566. 22 Fischl, J, and Rabiah, S, Clinical Chemistry, 1964, 10, 281. 23 Robinson, N, Curzon, G, and Theaker, P, Journal of Clinical Pathology, 1965, 18, 797.
Treatment of arthritis associated with psoriasis The arthritis associated with psoriasis is, like rheumatoid arthritis, extremely variable in its pattern. Some patients remit completely; others have remissions and relapses; and fortunately only a few pursue an unrelenting course. Though there is no specific treatment for the disease, many drugs can alleviate symptoms, while others can apparently control the course of the illness. The diagnosis of psoriatic arthropathy should be borne in mind for any patient presenting with polyarthritis, for joint manifestations may appear before the skin lesions. Recognising psoriatic arthritis is particularly important, because antimalarials (as used in the treatment of rheumatoid arthritis) may produce exfoliative dermatitis in patients with psoriasis. Direct questioning is essential: the patient may have had an attack of psoriasis years before and not volunteered this during routine history taking. As with rheumatoid arthritis, educating patients about their disease is of supreme importance. Nearly all patients with arthritis are concerned not only about the present but about the future. The patient and his family should be told that some cases of psoriatic arthritis remit completely, that nearly every patient can be helped, and that it is rare for any patient to become completely crippled. Treatment aims at maintaining the patient's confidence, easing his pain, and preserving or restoring function to the affected joints. For most mild cases simple analgesics such as aspirin or the non-steroidal anti-inflammatory drugs are helpful; it is extraordinary how variable is the response of individual patients to apparently similar pharmacological preparations. Side effects on the gut and the bone marrow may, however, present problems with phenylbutazone and indomethacin. A small dose of a corticosteroid-2.5 mg or 5 mg of prednisolone at night-may be helpful if early morning stiffness is a problem. Local steroid injections may be useful provided there are no skin lesions or psoriasis near the affected joint, when the injection may lead to infection of the joint. Simple physical methods such as heat and ice may help and do not make the psoriasis worse.
