#19 Acromegaly ✋💦

Before we get into this episode, just to mention, always wash your hands, always gain consent and aim to ensure that a patient's welfare, safety and comfort is maintained throughout the exam. This podcast is supported by Past Test. Past Test is an excellent resource which has a vast library of photographs, videos and notes which you can use to help prepare for the exam. For ice-based candidates, you can also claim back the cost of the resource using the training support scheme. Hi there, welcome back to MRCPI bedside where I'm joined by Dr. Michelle Mahar. Michelle is an endocrinology SPR currently working here in Dublin. How are you, Michelle? Hi, how are you? Thanks so much for having me on. I'm good. No, thank you. Thank you for joining us and thank you for agreeing today to talk about a common station in the clinical exams which is acromegally. It can come up in both the short cases, usually around station three. We were just discussing there that it certainly could also come up as a long case. As we've done previously, we might add over to Michelle to maybe give us a brief introduction about the station on acromegally maybe how you might get a lead in and then her approach. Yeah, absolutely. Acromegally is one of those things that's actually quite rare, but the work of exams is pretty common. So could definitely come up as a long case in which case you'd be expected to focus more on the history as well as the exam, but also as a short case in which case it would often be more of a spot diagnosis initially and they proceed to an appropriate exam. I suppose just a brief introduction to acromegally, it is a state of growth hormone excess and it generally occurs as a result of a pituitary micro-macro-atonoma which we can talk about a little bit more later but was essentially a benign pituitary tumor. In terms of a history for acromegally, the brief might read something like this patient is presenting with sweats and aches and pain. So it's pretty vague. And in this setting of a simulated long case, the patient isn't going to have features of acromegally but you'd be hoping maybe to tease out some of the symptoms. So in terms of the history, I like to think of it in terms of acromegally symptoms initially. So signs of active disease which would be arthralogen sweats and then symptoms which might relate to a tumor itself which would include headaches or visual symptoms, although headaches might be part of the syndrome of acromegally as well. And then in terms of complications that occur in acromegally, they can have cardiac disease. For example, you might ask about symptoms of cardiac failure like shortness of breath or perfilidema and they can get colonic polyps so you might ask about all to bowel, habit or pure bleeding. You can also get carpletonyl syndrome so you might ask about tingling the hands and they can also be more prone to insulin resistance and diabetes. So looking for symptoms which will reflect diabetes like polyureia and polydipsia. And then finally, something a little bit more specific to acromegally might be that the patient might also present with hypopituatrizum. So screening for things like fatigue and dizziness which might occur with cortisol deficiency or reduced libido and erectile dysfunction which could occur with gonadotope and deficiency, for example. So it is certainly quite a broad disease and can have varied presentations. But I suppose that gives you a little bit of a framework from which to think about the different aspects of it. So how would you approach an exam, a clinical exam? Yeah, so I suppose in a real case of acromegally this would typically come up in station three. And it may be a little bit hard to determine what exam you're been asked to do initially. The brief might be a little bit vague and might say, inspect this patient and proceed to examine them as you see fish because it is generally considered a spot diagnosis and by looking at someone you may have a fair idea that they have features of acromegally. Sometimes you might not know initially and always a good place to start with examination is the hands. So you'd be looking to see if they have evidence of quite large hands, whether they have any rings or maybe that these have been taken off. And sometimes they might even have these at the bedside as a clue or something like that. They might also have evidence of sweaty palms which would reflect active acromegally might have marks of checking their blood sugars on the pulps of their fingers as well if they have diabetes. And if at this stage you feel that they have a diagnosis of acromegally might be worth just testing for carpal tunnel syndrome as well with the failings and tinnels test. Acromegally patients often have high blood pressure so you'd mention that you check the blood pressure as well and assess their pulse as well as they might have cardiac disease and atrial fibrillation. The face should hopefully show you plenty of signs of acromegally. So be looking at their face in general for course and other facial features looking for frontal basing or prominence after a super orbital ridge and then pro-nathism which is a prominent jaw. And then also asking them to open up their mouth and having a look to see if the teeth are spaced out because of jaw enlargement or whether they have macroglasty as well. And then they might also have evidence of a prior hyperfacectomy or a patchoued research scar which would be a small scar on their upper lip as the access to this is generally through the nose. It's always really important to check the eyes and assess the visual feels in particular and looking for evidence of bytemporal hemianopia because a patchoued retruma will typically cause that form of visual feel defect but they could have any form of visual feel defect. And this would definitely be an indication for more urgent management of these patients. Then from here on in the exam is probably a little bit more general and you may be pressed for time so you can always see that you might mention some of these rather than doing the exam as such but briefly you could have a look the neck looking for any evidence of a goi sure which can happen in acromegally. You might assess the JVP to see if this evidence of heart failure look at the chest then expose the armpits or exhilas while looking for acomposus which will occur with insulin resistance. And look then to see if they have evidence going of chemistry which again can occur with acromegally and assessing the apex beat and ascultating the harsh looking for any evidence of cardiomyopathy or displacement of the apex beat. You could also examine the abdomen looking for evidence of organometallia as well. So they would be some of the main things so it probably follows a slightly different format to a lot of exams but I sure the examiner will guide you as well looking for any key features of the examination and hopefully a lot of these features are seen on general inspection as well. Absolutely and Michelle mentioned there that it's also okay as you go through you you know you want to be showing the examiner that you have an exam learned off but if you don't have time to pop it the abdomen you can turn to them and say I would also I do like to pop it the abdomen or do a lower limb exam to check for signs of complications of diabetes for example. Yeah absolutely because your time is limited so it's just important that your confidence in the exam that you execute and say that you would do other things as necessary. That would lead us on to if the examiner then asked you what would a differential diagnosis be because you do get you do get marks for an appropriate differential diagnosis but you probably would maybe need to give more the causes of acromicillia. Yeah I think so yeah absolutely because acromicly by definition really doesn't have a differential diagnosis but you could always say something like and this gentleman appears to features consistent with acromicule. You could have it's some other differentials which might include something like cushing syndrome for example but generally I think you would probably be going down more the route of the etiology of acromicly. So as I mentioned earlier in the vast majority of cases this is due to but nine pituitary tumor so pituitary micro abnormal which is less than 1 centimeter in diameter or macro adenoma which is greater than 1 centimeter in diameter. As I said these cause the most cases but there are rarer causes of acromicly which might include a pituitary cushing tumor for example or an or an or an or a hypothelanic tumor that produces growth hormone releasing hormone as well. How would you investigate such a patient. Yeah so the screening test for acromicly is not actually grow hormone level it's an insulin like growth factor one level. So the reason being that your growth hormone is secreted in a pulsatile fashion trade the day and you could measure this and it might be in a normal range in a patient with acromicly. Whereas growth hormone goes to the liver to stimulate IGF one or insulin like growth factor one release and this is released in a more constant fashion. So after a positive screening test or positive IGF one level you would then go on to an oral glucose tolerance test and this is a diagnostic test where you infuse a solution of glucose and this should suppress your growth hormone and when it doesn't suppress it this is diagnostic of acromicly. The additional blood tests that you would do would be a full pituitary profile so you'd want to do a 9 am cortisol, luteinizing hormone or LH follicle saliminating hormone or FSH and a testosterone level. as well, along with auto function tests and a prolactin. And you commonly see that the prolactin level would be elevated related to a stock effect on the pituitary gland. Other more routine blood tests there would include a renal profile looking at the sodium in particular. As in the case of any pituitary tumor, there may be diabetes and sypidus, and as a result, you may have a sodium level on the higher level of normal. It's also worth checking a calcium level as well as patients with pituitary adenomas may have a MEN1 syndrome and have a concomitant hyperparatiroidism as well. And then for completion, I would ask for a HPA1C in lipids as well as these patients have commonly type 2 diabetes and a high cardiovascular risk profile as well. And in terms of imaging, the MRI pituitary with contrast is the imaging modality of choice and here looking for a pituitary adenoma. And you might order this along with the oral glucose tolerance for growth hormone. And in all patients, you would get formal visual field testing with an ophthalmology service as well. You may be guided by the patient and their symptoms as well in terms of other investigations you might carry out which may relate more to complications of acromegly, but certainly every patient a baseline should have an ECG and an echo looking for evidence of cardiomyopathy. And patients should also have a baseline colonoscopy and may require surveillance colonoscopy if they have polyps. If there's evidence of sleep apnea, they might require sleep studies and if they've evidence of carpal tunnel syndrome, they might require a near-of-conduction studies as well. But all of this is a little bit in excess to the baseline investigations that you would need and it's guided really on what kind of presentation the patient has. And so there's a lot of complicating conditions there which would also open the examiner up to going down those roots for questions. How is acromegly managed? So all of these patients should be discussed at a pituitary MDT ideally, but the first line therapy is surgery. So that infars a transphenoidal resection of the pituitary tumor. And this is carried out by a neurosurgical service. Sometimes a complete resection might not be possible if the tumor is quite large and in case of the chronic gland or very close to the optic chiasm for example and sometimes a more limited surgical approach might have to be adopted and second line therapies added after that. And in some patients they may not be fit for surgery and may have to be treated with medical therapy. But for the vast majority of patients the first line therapy is surgery. Surgery can be complicated by a variety of factors. So as always there's a risk of hemorrhage, there's a risk of infection, a particularly meningitis, risk of CSF leak and also a risk of varying degrees of hypopituitrism, meaning a patient may end up having to take steroid medication or leave the thoraxine for example and this would be monitored closely after a pituitary surgery. As I mentioned if there is some remnant tissue or tumor there, the patient may require further treatments. And so there are various other options for treatment. This would include radiotherapy, so stereotactic radiotherapy in the first instance. And then there are also medical options, particularly if there is persistent disease. The medications are generally grouped into three groups. The first one are somatosatnamalugs, so things like acryotide which inhibit growth hormone and these are given as an IAM or a subcutaneous injection every few weeks. Another similar agent are growth hormone antagonists like pegvismat and these are given as a daily subcutaneous injection. And then finally although less effective dopamine agonist such as copergline can be used. So the advantage of these is that they are an oral medication. These are more commonly used for hyperpollectinemia but do have some role in acamegly as well. Michelle, thank you so much. That was brilliant. Thank you for going through all that. And we've heard anecdotely a few times that one of the examiner's favorite questions is what clinical features can imply active disease. So I think Michelle mentioned them already. It's the sweating, it's the skin tags. It's the peripheral edema that those, some of the major signs. Yeah, yeah, absolutely. So the sweating in particular and the arthralgia. Before we let you go Michelle, I just ask you, do you remember what your cases were and where you did them? Yes, so I did my exam in Tallah and for the endocrine station I had a lady who had evidence of thyroid eye disease and she also had a scar of her neck consistent with a previous thyroidectomy but had persistent thyroid eye disease. And the abdominal station had a case of spleen of megaly and then for the neurology station I had a patient with spastic paraparesis and we asked for a lower limb neurological exam and for the cardiovascular exam I honestly can't remember which is a good sign I suppose because it was only a year ago. Yes, yeah, I actually think I got some of those similar cases as well. Yeah, I think a lot of the same things tend to rotate through and definitely thyroid and acrimetally higher. To very. And we're just a brief note that we were also saying that in terms of endocrinology that some of the other main topics to cover would be you know your peripheral neuropathy and potentially a sharko joint arm for a diabetes case. Is there anything else that you can think of Michelle that the candidates likely should know from an endocrine point of view? I think there is a way the main thing so absolutely diabetic, fresh, thyroid and acrimetally exam. Sometimes cushing syndrome could potentially come up but I actually haven't heard of that but that might be something worth looking over and having a basic awareness of. And I think when they changed the exams form a couple of years ago there was a feeling they might put some equipment on the exam. Sometimes as part of the endocrine station that you might be presented with an insulin pump. So I think this may have been the case that it was part of an exam where a patient who had diabetes and you were asked before a diabetic for example had an insulin pump by the bedside so it might be just worth knowing how to recognize one or even Google pictures and you know basic equipment like insulin pens and things like that as well. Michelle thank you so much that was brilliant. Thank you for going through everything. Thank you for your time. We'll let you go finally and enjoy this. Enjoy the sun. Thank you goodbye. A big thank you again to Stepping on Lego who provide our amazing show music. If you'd like to get in touch they can be contacted at Stepping on Lego Band at gmail.com or through social media. And if you want to contact us you can get in touch via our Instagram @mrcpibedside, Twitter account or ex-event@mrcpibedside or email which is [email protected]. Thanks again and good luck. Good luck.