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

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