Krenskels Syndrome in Elderly Persons - Term Paper Example

Krenskel’s Syndrome 1. Krenskel’s syndrome is a genetic mutation which leads to the walls of capillaries increasing in their permeability as individuals age . It there is more than one copy of this unusual mutation then this is incompatible with life after only a few months. If there is only one mutation the condition gradually worsens as the individual ages . This results in a number of symptoms including haemoptysis , the coughing up of blood from the respiratory tract, below the level of the larynx. It is due to the fragility of the capillaries, which may be put under extra pressure if for instance the person coughs. This is often the presenting symptom in this condition, as it is far too rare to be picked up in other ways. Peripheral oedema, otherwise referred to as interstitial fluid, that is fluid which settles in the small spaces between tissue. It more often a symptom of such conditions as right sided heart failure, cirrhosis, or the use of steroid drugs, so if it does occur then medical personal are more likely to investigate the possibility of these conditions in the first instance. It occurs in those with Krenskel’s syndrome because, if the capillaries are weak walled, porous and leak , a stronger , more concentrated, fluid will always pass into a weaker one in the body’s attempts at homeostasis. Until the strength of fluid outside the blood vessels equals that inside the process will continue and oedema increases. Because humans are often upright this fluid outside the circulatory system, will naturally tend to pool in the lower limbs, because it is not being affected by the work of the heart and blood vessels in sending circulatory fluids around. At first only plasma would cross the capillary barrier, but as permeability increases with age, other blood products, including blood cells, including the oxygen carrying red blood cells, would cross out of the circulatory system into the tissues. Proteinuria is a symptom of cardio vascular disease, of which Krensel’s syndrome is one in that it is a disease which affects blood vessels. ( Patient , undated) . It’s presence shows that renal function is deteriorating, in that proteins are leaking through the glomeruli , rather than being retained by the body (Medicine Net .com 2015) . Both blood albumin and globulins will be lost into the urine (German, 2015). Albumin accounts for over 50 percent of all serum proteins. It has important bodily functions for homeostasis which include pulling water into the capillaries and also maintaining the correct percentage of water within the circulatory system. Albumins also bind and carry substances that are relatively poorly soluble in water. This would include the are calcium, the fat soluble vitamins A,D,E and K, and some substances used in medications. Globulins are divided into three types, alpha, beta and gamma globulins. Alpha and beta globulins work by transporting substances. The gamma globulins are also known as antibodies or immunoglobulins . It can be seen therefore that proteinuria affects not only the makeup blood in circulation, including the presence of vitamins, but also has a negative effect on the body’s immune response abilities. Proteinuria may be picked up on a routine check, or if the person has a urinary infection which requires the testing of the urine, but may present in the first instance by presenting other symptoms such as puffy face and around the eyes, as well as oedema of the limbs. The urine may be foamy and appetite may be poor. Blood pressure may be elevated. It can be diagnosed using the Urine Albumin to Creatinine Ratio (UACR) a test which gives an estimate of how much albumin is excreted in a 24-hour period, but does not without require urine to be collected for a whole day, which could be very awkward for patients ( German , 2015). Proteinuria is a symptom rather than a disease so medical staff will first try to discover the cause so that this can be treated, using tests such as Glomerular filtration rate (GFR), a renal ultrasound scan or kidney biopsy. German goes on to suggest that ACE inhibitors, such as Monopril ( fosinopril ( Drugs.com, 2015) and Vasotec, ( elanapril) Drugs.com. 2015) which are used to treat hypertension, can be useful in cases of proteinuria in those with this condition, and it seems logical that such treatments might be of some use in cases of Krenskel’s syndrome where the elevated blood pressure of older ages is increasing symptoms. 2. Krenskel’s syndrome will affect many body organs , because capillaries are present throughout the body. In this essay the intestinal tract will be considered. As a person ages their blood pressure tends to increase along with their years. Weber (2015) , says that 80% of over 65s have high blood pressure. This in part explains why the older a person with Krenskel’s syndrome is the more likely they are to have leaking capillaries. If this occurs within the gastro intestinal tract then there will be blood passing into that tract and being lost from the body. This could present in a number of ways such as hematemesis , the vomiting of blood, perhaps particularly if the person has a high hepatic blood pressure . These are however capillary bleeds, rather than venous or arterial ones, so a slow seepage is likely to be the case, rather than sudden gushes of blood. This may present in the first instance as general feelings of tiredness , as anaemia gradually gets worse due to hidden ( occult ) blood loss. Krenskel’s syndrome is such a rare syndrome that it is highly unlikely that this would be diagnosed, or even considered in a case of anaemia, defined as a case of reduced red blood cell mass, as measured by common tests such as measures of hemoglobin (Hb) concentration and haematocrit ( Artz and Besa, 2015). Such a case of anaemia may require a quite comprehensive evaluation before any one cause can be arrived at, and may involve scans, biopsy, colonoscopy among other tests. The person may look pale and have shortness of breath as their body tries to cope with its decreased capacity to carry oxygen , which is carried in red blood cells. In milder cases tests for occult blood may reveal the presence of small amounts of blood contained in stools, because red blood cells are passing through capillary walls and directly into the gastro-intestinal tract where digestion takes place. As the condition gains in it severity over time, the person may become aware of darker stools and even be aware that they are passing blood in their stools. The finding of occult, or even frank blood, in the stools resulting from gastrointestinal bleeding, will lead to lots of investigations such as scans, biopsies and colonoscopies as well as blood and other tests, but none of these will in this case result in finding a condition which can be easily treated. Prognosis will depend upon the amount being lost, which , according to what is known about this condition, will get gradually worse over time , as the amount of leakages increases. It is likely and logical that the person will have been losing other circulatory fluids for some considerable time before the leakage becomes bad enough to allow red blood cells, which are relatively large in size, to exude through the capillary walls. Because this is a genetic condition because this affects every body cell and so every capillary. Treatment would therefore consist of dealing with symptoms, rather than any attempt at a cure. These would however only be likely to offer only temporary relief. So the anaemia could be treated by giving iron tablets injections, or even blood transfusions, depending upon the severity of the anaemia, and this may help to some extent. There is a danger from the latter treatment of increasing blood pressure , which would of course increase the amount of capillary leakage and could potentially make matters worse. Any transfusion should therefore be carried out at a slow rate of infusion. The peripheral oedema could be treated with diuretics, especially perhaps the thiazide based diuretics, such as bendroflumethiazide ( Patient, undated) and indapamide ,( Patient, undated) but the use of these could cause heart arrhythmias and electrolyte imbalances ( WebMed , 2015), so cardiac problems and also biochemical ones. There are also common side effects such as itching , itchy skin and dizziness. There is also the problem that these medications are not advised if the person has other conditions such as porphyria, gout or lupus erythematosus, adrenal problems or has increased amounts of blood calcium or has abnormally lo levels of potassium or sodium in the blood. This rare syndrome is a disease of the connective tissue, and so symptoms may be very similar to those found in cases of osteogensis imperfecta, a relatively rare life -long genetic condition, which can also be easily overlooked or misdiagnosed. Although often known as brittle bone disease this is a disease which can affect any connective tissues, such as muscles , tendons and sinews , which would include blood vessels. The condition can present in a number of different ways, and in its severity, even among members of a family. As well as the obvious broken bones, it can affect sinews as well as blood vessels, and so sufferers may find that they too bleed from the gastro intestinal tract, although the results can be more dramatic, as, as well as capillaries being involved, the larger blood vessels may rupture resulting in a sudden and a massive blood loss. The two conditions can be differentiated by looking at the genes involved. Evidence of blood within the gastro-intestinal tract is unlikely to lead very quickly, if at all, to a diagnosis of Krenskel’s syndrome, unless a relative in the affected Indochinese family has already been diagnosed. Even if this is correct diagnosis is done, and the individual has the condition explained to them, the actual diagnosis is unlikely to be useful, except that some questions are answered. If there are larger blood vessels with damage these can be repaired, as is done in the case of aneurysms, or where stents are used. In cases of severe bleeding , which could of course affect the whole length of the gastrointestinal tract, the person may eventually develop a failure of their circulation and will go into shock, and eventual heart failure. The prognosis, whatever the symptoms , and however early a diagnosis is made, seems very poor, and will be based upon relieving symptoms , rather than cures. Even if symptoms can be relieved, this will be only on a temporary basis, as this is a condition which gradually worsens with age. As so little is known about this rare and only recently described condition, it is at present impossible to come up with accurate life expectancy rates. References Artz, A. and Besa , E, (2015) Anaemia in elderly persons, Medscape, retrieved from http://emedicine.medscape.com/article/1339998-overview Drugs.com, (2015), Monopril, retrieved from http://www.drugs.com/monopril.html Drugs,com, (2015) , Vasotec, retrieved from http://www.drugs.com/vasotec.html German, S, (2015), What is proteinuria? DaVita, retrieved from http://www.davita.com/kidney-disease/overview/assessing-your- risk/proteinuria/e/7463 Medicine Net.com , (2015), Proteinuria, retrieved from http://www.medicinenet.com/script/main/art.asp?articlekey=5086 Patient , (undated) , Bendroflumethiazide tablets , retrieved from http://www.patient.co.uk/medicine/bendroflumethiazide-tablets Patient,( undated), Proteinuria, retrieved from http://www.patient.co.uk/doctor/proteinuria-pro Weber, C, (2015), What Happens to Blood Pressure as we Age?, About Health, retrieved from http://highbloodpressure.about.com/od/highbloodpressure101/f/aging_and_bp.htm WebMed, (2015) , High Blood Pressure and Diuretics (Water Pills), retrieved from http://www.webmd.com/hypertension-high-blood-pressure/guide/diuretic-treatment Read More