Consultant physicians working with patients - Royal College of ...

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2 Specialties Metabolic medicineMetabolic medicineDr Ruth M Ayling Consultant chemical pathologist1 Description of the specialtyMetabolic medicine (MM) can be defined as a groupof overlapping areas of clinical practice with commondependence on detailed understanding of basicbiochemistry and metabolism. Those areas are: disorders of nutrition,eg obesity, patients requiring parenteral nutrition inherited metabolic disease (IMD),eg phenylketonuria, galactosaemia, urea cycledefects, glycogen storage disorders abnormalities of lipid metabolism andcardiovascular risk assessment disorders of calcium metabolism and bone,eg osteoporosis, vitamin D deficiency, Paget’sdisease, osteogenesis imperfecta, renal stones diabetes mellitus.They fall within the expertise of both the physician andbiochemist. With regard to training, MM is considereda subspecialty and whilst it is possible to specialise witha background in general internal medicine, most MMphysicians are also trained in chemical pathology.The patients cared for by MM physicians are a diversegroup across all age ranges. Many have chronicdisorders that require long-term follow-up. Advances indiagnostics such as developments in neonatal screeningand new treatments such as enzyme replacementtherapies are bringing novel management challenges,particularly for patients with IMD.In each domain the MM physician works to lead andcoordinate the activities of a multidisciplinary teamconfirming a biochemical diagnosis, institutingtreatment, preventing complications and offeringinformation, help and support.MM physicians who are chemical pathologists alsoprovide professional direction in a clinical biochemistrylaboratory. In addition to providing interpretativeadvice on a wide range of clinical biochemistry tests forGPs and hospital colleagues, they are particularly wellplaced to advise on any aspects that fall within the fivemetabolic medicine domains listed above.2 Organisation of the service and patternsof referralMM is a new and developing specialty so it is notpossible to describe a typical service. Although MMphysicians are trained in all five domains, most willsubspecialise in two according to the needs of theservice in which they work. In a district general hospitaland some teaching hospitals, MM physicians mighthave clinical responsibilities such as the management ofpatients receiving parenteral nutrition and those withabnormalities of lipid metabolism and cardiovascularrisk assessment or disorders of calcium metabolism andbone, in addition to duties within the clinicalbiochemistry laboratory. The clinical biochemistrylaboratory service is led by an MM physician trained inchemical pathology and comprises a mixture of clinicaland scientific staff. The MM consultant hasresponsibility for hospital outpatient clinics as well asproviding ward referrals and care of patients admittedfor investigation.In other settings such as a tertiary referral centre, theMM physician may specialise in just one domain,eg IMD, to deliver a more clinically focused service,particularly in adults. As many metabolic disorders arecomparatively rare, laboratory and clinical networksexist and are being further developed to link regionalservices to district general hospitals and so ensure awide delivery of full diagnostic services and tertiarylevel clinical care.The majority of referrals to MM physicians are fromGPs or consultant colleagues. As the specialty becomesbetter established it is anticipated that referrals willincrease, for example adult patients with IMD nothaving the opportunity to be cared for by a physicianwith specific expertise and patients with metabolic bonedisease not currently being seen in a dedicatedmultidisciplinary clinic, are two obvious groups.C○ Royal College of Physicians 2013 167
Consultant physicians working with patients3 Working with patients: patient-centredcareOptimal management of metabolic disease involvesinforming patients and engaging them in theirtreatment. Many metabolic disorders require complexnutritional modifications, and dietetic regimens need tobe tailored to the requirements, lifestyle and preferencesof individual patients for success.Patient-centred carePatient choice: cultural considerationsIt is essential that the MM specialist appreciates andresponds to the needs of people from different culturalbackgrounds. Innovative approaches have been tried insome regions, particularly with respect to diabetes andlipid management, and the nature of the specialty favoursrapid dissemination of examples of good practice.Patient support groupsPatient support groups are available in all domains of thespecialty and play a vital role in providing information,peer support and counselling. Examples include: disorders of nutrition – Patients on Intravenous andNasogastric Nutrition Therapy (PINNT) (www.pinnt.com) abnormalities of lipids – Heart UK (www.heartuk.org.uk) disorders of calcium metabolism and bonemetabolism – National Osteoporosis Society(www.nos.org.uk) IMD – Contact a Family (www.cafamily.org.uk),National Society for Phenylketonuria (NSPKU)(www.nspku.org) diabetes–DiabetesUK(www.diabetes.org.uk).Many MM physicians are involved with the patientsupport groups relevant to their own domain(s) ofinterest within the specialty at local or national level.4 Interspecialty and interdisciplinary liaisonMultidisciplinary team workingMM favours a multidisciplinary team (MDT) approach.The members of the team and their particular expertisewill vary according to the domain involved. Forexample, an MM physician prescribing parenteralnutrition will work closely with an appropriately skilledspecialist nurse, dietitian and pharmacist. Aphysiotherapist is an essential team member in aspecialist outpatient clinic where patients with bonedisease are seen.Working with other specialtiesMM has key links with a number of other specialties, eg: gastroenterology, general surgery cardiology orthopaedics, rheumatology paediatrics obstetrics endocrinology.This illustrates the breadth of skills that the MMphysician needs in order to maximise the expertise ofother medical and surgical colleagues to best advantage.Working with GPs and GPs with a special interestSome metabolic disorders such as commondyslipidaemias and diabetes mellitus are frequentlyencountered in general practice and it is essential forMM physicians to work closely with GPs to ensureappropriate care pathways and optimal care, particularlyfor those patients who have chronic metabolic disorders.5 Delivering a high-quality serviceMaintaining and improving the quality of careA high-quality MM service will be well staffed, wellresourced and consultant led. It will be supported by anaccredited clinical biochemistry laboratory offering afull repertoire of investigations to enable the diagnosisand monitoring of metabolic disease.Service developments to deliver improvedpatient careMM physicians maintain and improve quality ofcare both for their patients and in clinical biochemistrylaboratories for which they have responsibility.This is achieved by involvement in management,clinical governance, professional self-regulation,continuing professional development (CPD), educationand training and by the provision of specialist adviceat local, regional and national levels. They participatein laboratory quality control and national externalquality assurance schemes and projects that auditoutcomes. The MM physician is also responsible for theimplementation of guidelines from bodies such as theRoyal College of Pathologists, the National Institute forHealth and Care Excellence (NICE) and the Department168 C○ Royal College of Physicians 2013
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AbbreviationsA&EAACsAMUsARCPCCGsCCS
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2 Specialties Clinical geneticsClin
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