Module 10: Endocrine system pathology
describe Osteoporosis
Osteoporosis is a condition characterized by the loss of the normal density of bone, resulting in fragile bone. Osteoporosis leads to literally abnormally porous bone that is more compressible like a sponge, than dense like a brick. This disorder of the skeleton weakens the bone causing an increase in the risk bone fracture. Normal bone is composed of protein, collagen, and calcium all of which give bone its strength. Bones that are affected by osteoporosis can fracture with relatively minor injury that normally would not cause a bone fracture. The fracture can be either in the form of cracking (as in a hip fracture), or collapsing (as in a compression fracture of the vertebrae of the spine). The spine, hips, and wrists are common areas of bone fractures from osteoporosis, although osteoporosis-related fractures can also occur in almost any skeletal bone.
Rickets Describe
Rickets is a softening of bones in children potentially leading to fractures and deformity. Rickets is among the most frequent childhood diseases in many developing countries.
diagnosisof Rickets
A doctor may diagnose rickets by: • Blood tests: o Serum calcium may show low levels of calcium, serum phosphorus may be low, and serum alkaline phosphatase may be high. • Arterial blood gases may reveal metabolic acidosis • X-rays of affected bones may show loss of calcium from bones or changes in the shape or structure of the bones. • Bone biopsy is rarely performed but will confirm rickets. An X-ray of an advanced sufferer from rickets tends to present in a classic way: bow legs (outward curve of long bone of the legs) and a deformed chest. Changes in the skull also occur causing a distinctive "square headed" appearance. These deformities persist into adult life if not treated.
describe Acromegaly
Acromegaly (from Greek akros "extreme" or "extremities" and megalos "large" - extremities enlargement) is a syndrome that results when the pituitary gland produces excess growth hormone (hGH) after epiphyseal plate closure. A number of disorders may affect the pituitary to create this circumstance, although most commonly it involves a growth hormone (GH) producing tumor derived from a distinct type of cells (somatotrophs) and called pituitary adenoma. Acromegaly is often associated with gigantism.
describe Diabetes
Diabetes is a disease in which the body does not produce or properly use insulin. Insulin is a hormone that is needed to convert sugar, starches and other food into energy needed for daily life. Type 1 diabetes Results from the body's failure to produce insulin, the hormone that "unlocks" the cells of the body, allowing glucose to enter and fuel them. It is estimated that 5-10% of Americans who are diagnosed with diabetes have type 1 diabetes. Type 2 diabetes Results from insulin resistance (a condition in which the body fails to properly use insulin), combined with relative insulin deficiency. Most Americans who are diagnosed with diabetes have type 2 diabetes. Gestational diabetes Immediately after pregnancy, 5% to 10% of women with gestational diabetes are found to have diabetes, usually, type 2. Pre-diabetes Pre-diabetes is a condition that occurs when a person's blood glucose levels are higher than normal but not high enough for a diagnosis of type 2 diabetes. There are 57 million Americans who have pre-diabetes, in addition to the 23.6 million with diabetes.
symptoms of Diabetes
Diabetes often goes undiagnosed because many of its symptoms seem so harmless. Recent studies indicate that the early detection of diabetes symptoms and treatment can decrease the chance of developing the complications of diabetes. Some diabetes symptoms include: Frequent urination Excessive thirst Extreme hunger Unusual weight loss Increased fatigue Irritability Blurry vision
symptoms of Acromegaly
Features that result from high levels of growth hormone or an expanding tumor include: • Soft tissue swelling visibly resulting in enlargement of the hands, feet, nose, lips and ears, and a general thickening of the skin • Soft tissue swelling of internal organs, notably the heart with attendant weakening of its muscularity, and the kidneys, also the vocal cords resulting in a characteristic thick, deep voice and slowing of speech • Generalized expansion of the skull at the fontanelle • Pronounced brow protrusion, often with ocular distension • Pronounced lower jaw protrusion with attendant macroglossia (enlargement of the tongue) and teeth gapping It can also cause complications to include: • Severe headache • Arthritis and carpal tunnel syndrome • Enlarged heart • Hypertension • Diabetes mellitus • Heart failure • Kidney failure • Compression of the optic chiasm leading to loss of vision in the outer visual fields • Increased palmar sweating and sebum production over the face (seborrhea) are clinical indicators of active growth hormone (GH) producing pituitary tumors. These symptoms can also be used to monitor the activity of the tumor after surgery although biochemical monitoring is confirmatory.
treatment Osteoporosis
Hormone therapy (HT) was once the mainstay of treatment for osteoporosis. But because of concerns about its safety and because other treatments are available, the role of hormone therapy in managing osteoporosis is changing. Prescription medications can help slow bone loss and may even increase bone density over time. These include biophosphonates, raloxifene, calcitonin, teriparatide, and tamoxifen. A new physical therapy program has been shown to significantly reduce back pain, improve posture and reduce the risk of falls in women with osteoporosis who also have curvature of the spine. The program combines the use of a device called a spinal weighted kypho-orthosis (WKO) - a harness with a light weight attached - and specific back extension exercises. The WKO is worn daily for 30 minutes in the morning and 30 minutes in the afternoon and while performing 10 repetitions of back extension exercises.
diagnosis of Acromegaly
If this is suspected, imaging and laboratory tests are used to confirm or rule out this condition. IGF1 (insulin-like growth factor 1, which is a hormone) provides the most sensitive and useful lab test for the diagnosis of acromegaly. Other pituitary hormones can be tested to include thyroid stimulating hormone, gonatropic hormones, adenocorticotropic hormone, and prolactin. An MRI of the brain focusing on the sella turcica after gadolinium administration allows for clear delineation of the pituitary and the hypothalamus and the location of the tumor. On radiographs bones can become thickened, lengthened or enlarged, and have increased density.
diagnosis of Diabetes
In order to determine whether or not a patient has pre-diabetes or diabetes, health care providers conduct a Fasting Plasma Glucose Test (FPG) or an Oral Glucose Tolerance Test (OGTT). Either test can be used to diagnose pre-diabetes or diabetes. The American Diabetes Association recommends the FPG because it is easier, faster, and less expensive to perform. With the FPG test, a fasting blood glucose level between 100 and 125 mg/dl signals pre-diabetes. A person with a fasting blood glucose level of 126 mg/dl or higher has diabetes. In the OGTT test, a person's blood glucose level is measured after a fast and two hours after drinking a glucose-rich beverage. If the two-hour blood glucose level is between 140 and 199 mg/dl, the person tested has pre-diabetes. If the two-hour blood glucose level is at 200 mg/dl or higher, the person tested has diabetes.
etiology of Acromegaly
In over 90 percent of acromegaly patients, the overproduction of growth hormones is caused by a benign tumor of the pituitary gland, called a pituitary adenoma. These tumors produce excess growth hormones and, as they expand, compress surrounding brain tissues, such as the optic nerves. This expansion causes the headaches and visual disturbances that often accompany acromegaly. In addition, compression of the surrounding normal pituitary tissue can alter production of other hormones, leading to changes in menstruation and breast discharge in women and impotence in men because of reduced testosterone production. There is a marked variation in rates of GH production and the aggressiveness of the tumor. Some adenomas grow slowly and symptoms of growth hormone excess are often not noticed for many years. Other adenomas grow rapidly and invade surrounding brain areas or the sinuses, which are located near the pituitary. In general, younger patients tend to have more aggressive tumors. Most pituitary tumors arise spontaneously and are not genetically inherited. Many pituitary tumors arise from a genetic alteration in a single pituitary cell which leads to increased cell division and tumor formation. This genetic change, or mutation, is not present at birth, but is acquired during life. The mutation occurs in a gene that regulates the transmission of chemical signals within pituitary cells; it permanently switches on the signal that tells the cell to divide and secrete growth hormones. The events within the cell that cause disordered pituitary cell growth and growth hormone oversecretion currently are the subject of intensive research. In a few patients, acromegaly is caused not by pituitary tumors but by tumors of the pancreas, lungs, and adrenal glands. These tumors also lead to an excess of GH.
symptoms Osteoporosis
In the early stages of bone loss, you usually have no pain or other symptoms. But once bones have been weakened by osteoporosis, you may have osteoporosis symptoms that include: Back pain, which can be severe if you have a fractured or collapsed vertebra Loss of height over time, with an accompanying stooped posture Fracture of the vertebrae, wrists, hips or other bones
symptoms of Paget's Disease
Many people do not know they have Paget's disease because they have a mild case of the disease with no symptoms. Sometimes, symptoms may be confused with those of arthritis or other disorders. In other cases, the diagnosis is made only after complications have developed. Symptoms can include: • Bone pain is the most common symptom. Bone pain can occur in any bone affected by Paget's disease and is often worse at night. It often localizes to areas adjacent to the joints and can be accompanied by warmth to the touch. • Headaches and hearing loss may occur when Paget's disease affects the skull. • Pressure on nerves may occur when Paget's disease affects the skull or spine. • Increased head size, bowing of limb, or curvature of spine may occur in advanced cases. • Hip pain may occur when Paget's disease affects the pelvis or thighbone. • Damage to cartilage of joints may lead to arthritis.
describe Paget's Disease
Paget's disease is a chronic bone disorder that is due to irregular breakdown and formation of bone tissue. Paget's disease can cause bones to expand and weaken and may result in bone pain, arthritis, bone deformity and fractures. It is usually localized to one bone but can involve many bones. Paget's disease is also known as osteitis deformans.
diagnosis of Paget's Disease
Paget's disease may be diagnosed using one or more of the following tests: X-rays-Pagetic bone has a characteristic appearance on x-rays. It begins as an area of radiolucency that represents the destructive phase of the disease. During the reparative process, the development of irregular islands of sclerosis and cortical thickening results in a mottled, cotton-wool appearance. Paget's disease causes enlargement of the vertebral body and increased trabeculation. The pelvis is the most common and often the initial site of Paget's. A distinct early sign is coarsening of the trabeculae. Alkaline phosphatase test-An elevated level of alkaline phosphatase in the blood can be suggestive of Paget's disease but can be found in other conditions. Bone scan-This is useful in determining the extent and activity of the condition. If a bone scan suggests Paget's disease, the affected bone or bones should be x-rayed to confirm the diagnosis
symptoms of Rickets
Signs and symptoms of rickets include: • Bone pain or tenderness • Dental problems • Muscle weakness (rickety myopathy or "floppy baby syndrome") • Increased tendency for fractures, especially greenstick fractures • Skeletal deformity o Toddlers: Bowed legs o Older children: Knock-knees o Cranial, spinal, and pelvic deformities • Growth disturbance • Hypocalcemia (low level of calcium in the blood), and • Tetany (uncontrolled muscle spasms all over the body). • Craniotabes (soft skull) • Costochondral swelling • Double malleoli sign due to metaphyseal hyperplasia • Widening of wrist raises early suspicion, it is due to metaphysial cartilage hyperplasia
etiology of Paget's Disease
The actual cause of Paget's disease is not known. It is a common metabolic disease. Destruction of bone, followed by a reparative process, results in weakened, deformed, and thickened structures that tend to fracture easily.
diagnosis Osteoporosis
The best screening test is dual energy x-ray absorptiometry (DEXA). It is quick, simple and gives accurate results. Other tests that can accurately measure bone density include ultrasound and CT scans. Radiographs will show cortical lining thinning, with irregularity and resorption of endosteal surfaces. The bone density decreases.
Etiology of Diabetes
The cause of diabetes continues to be a mystery, although both genetics and environmental factors such as obesity and lack of exercise appear to play roles. Type 1 and type 2 diabetes have different causes. Yet two factors are important in both. First, you must inherit a predisposition to the disease. Second, something in your environment must trigger diabetes. In most cases of type 1 diabetes, people need to inherit risk factors from both parents. One trigger might be related to cold weather. Type 1 diabetes develops more often in winter than summer and is more common in places with cold climates. Another trigger might be viruses. Perhaps a virus that has only mild effects on most people triggers type 1 diabetes in others. Early diet may also play a role. Type 1 diabetes is less common in people who were breastfed and in those who first ate solid foods at later ages. In many people, the development of type 1 diabetes seems to take many years. In experiments that followed relatives of people with type 1 diabetes, researchers found that most of those who later got diabetes had certain autoantibodies in their blood for years before. Type 2 diabetes has a stronger genetic basis than type 1, yet it also depends more on environmental factors. Americans and Europeans eat too much fat and too little carbohydrate and fiber, and they get too little exercise. Type 2 diabetes is common in people with these habits. The ethnic groups in the United States with the highest risk are African Americans, Mexican Americans, and Pima Indians. In contrast, people who live in areas that have not become Westernized tend not to get type 2 diabetes, no matter how high their genetic risk. Obesity is a strong risk factor for type 2 diabetes. Obesity is most risky for young people and for people who have been obese for a long time. Gestational diabetes is more of a puzzle. Women who get diabetes while they are pregnant are more likely to have a family history of diabetes, especially on their mothers' side. But as in other forms of diabetes, nongenetic factors play a role. Older mothers and overweight women are more likely to get gestational diabetes.
treatment of Acromegaly
The goals of treatment are to reduce GH production to normal levels, to relieve the pressure that the growing pituitary tumor exerts on the surrounding brain areas, to preserve normal pituitary function, and to reverse or ameliorate the symptoms of acromegaly. Currently, treatment options include surgical removal of the tumor, drug therapy, and radiation therapy of the pituitary. Surgery is used to remove the tumor. This will relieve the pressure on surrounding brain regions and lead to a lowering of GH levels. Medications are used to reduce both GH secretion and tumor size. Medical therapy is sometimes used to shrink large tumors before surgery. Radiation therapy has been used both as a primary treatment and combined with surgery or drugs. It is usually reserved for patients who have tumor remaining after surgery.
treatment of Diabetes
The major goal in treating diabetes is to minimize any elevation of blood sugar without causing abnormally low levels of blood sugar. Type 1 diabetes is treated with insulin, exercise, and a diabetic diet. Type 2 diabetes is treated first with weight reduction, a diabetic diet, and exercise. When these measures fail to control the elevated blood sugars, oral medications are used. If oral medications are still insufficient, treatment with insulin is considered The first thing that should occur is to make healthful lifestyle choices in diet, exercise and other health habits. These will help improve blood sugar control. People should try to lose weight, eat a well-balanced diet, exercise regularly, eliminate alcohol use, and monitor blood glucose levels. Treatment of Type 1 diabetes almost always involves the daily injection of insulin, usually a combination of short-acting insulin, and a longer acting insulin. For Type 2, people are given a chance to lower blood sugar levels without medication. It is becoming more common for Type 2 diabetics to take a combination of oral medications and insulin injections to control blood sugar levels.
etiology of Rickets
The predominant cause is a vitamin D deficiency, but lack of adequate calcium in the diet may also lead to rickets. Although it can occur in adults, the majority of cases occur in children suffering from severe malnutrition, usually resulting from famine or starvation during the early stages of childhood. Osteomalacia is the term used to describe a similar condition occurring in adults, generally due to a deficiency of vitamin D. Vitamin D is required for proper calcium absorption from the gut. In the absence of vitamin D, dietary calcium is not properly absorbed, resulting in hypocalcemia, leading to skeletal and dental deformities and neuromuscular symptoms.
etiology of Osteoporosis
The strength of your bones depends on their size and density; bone density depends in part on the amount of calcium, phosphorus and other minerals bones contain. When your bones contain fewer minerals than normal, they're less strong and eventually lose their internal supporting structure. The process of bone remodeling Scientists have yet to learn all the reasons why this occurs, but the process involves how bone is made. Bone is continuously changing - new bone is made and old bone is broken down - a process called remodeling, or bone turnover. A full cycle of bone remodeling takes about two to three months. When you're young, your body makes new bone faster than it breaks down old bone, and your bone mass increases. You reach your peak bone mass in your mid-30s. After that, bone remodeling continues, but you lose slightly more than you gain. At menopause, when estrogen levels drop, bone loss in women increases dramatically. Although many factors contribute to bone loss, the leading cause in women is decreased estrogen production during menopause. Your risk of developing osteoporosis depends on how much bone mass you attained between ages 25 and 35 (peak bone mass) and how rapidly you lose it later. The higher your peak bone mass, the more bone you have "in the bank" and the less likely you are to develop osteoporosis as you age. Not getting enough vitamin D and calcium in your diet may lead to a lower peak bone mass and accelerated bone loss later. The strength of your bones depends on their size and density; bone density depends in part on the amount of calcium, phosphorus and other minerals bones contain. When your bones contain fewer minerals than normal, they're less strong and eventually lose their internal supporting structure. The process of bone remodeling Scientists have yet to learn all the reasons why this occurs, but the process involves how bone is made. Bone is continuously changing - new bone is made and old bone is broken down - a process called remodeling, or bone turnover. A full cycle of bone remodeling takes about two to three months. When you're young, your body makes new bone faster than it breaks down old bone, and your bone mass increases. You reach your peak bone mass in your mid-30s. After that, bone remodeling continues, but you lose slightly more than you gain. At menopause, when estrogen levels drop, bone loss in women increases dramatically. Although many factors contribute to bone loss, the leading cause in women is decreased estrogen production during menopause. Your risk of developing osteoporosis depends on how much bone mass you attained between ages 25 and 35 (peak bone mass) and how rapidly you lose it later. The higher your peak bone mass, the more bone you have "in the bank" and the less likely you are to develop osteoporosis as you age. Not getting enough vitamin D and calcium in your diet may lead to a lower peak bone mass and accelerated bone loss later. What keeps bones healthy Three factors that you can influence are essential for keeping your bones healthy throughout your life: Regular exercise Adequate amounts of calcium Adequate amounts of vitamin D, which is essential for absorbing
treatment of Rickets
The treatment goals are to relieve symptoms and correct the cause of the condition. The underlying cause must be treated to prevent recurrence. The replacement of deficient calcium, phosphorus, or vitamin D will eliminate most symptoms of rickets. Dietary sources of vitamin D include fish, liver, and processed milk. Exposure to moderate amounts of sunlight is encouraged. Treating rickets caused by metabolic abnormalities may require a special prescription for vitamin D. Positioning or bracing may be used to reduce or prevent deformities. Some skeletal deformities may require corrective surgery.
treatment of Paget's Disease
Treatment for Paget's diseases consists of medications that alter the rate of bone turnover. The two most common treatment medications are bisphosphonates and calcitonin. These are the same treatment medications used in individuals with osteoporosis. The bisphosphonates bind to the bone to stop it from being reabsorbed. Calcitonin inhibits the cells that absorb the bone. Both these Paget's disease treatment medications prevent the weak parts of bone that cause deformity and are at high risk for being fractured. Sometimes surgery is needed if there is a significant bone deformity or if there is a break in the bone. Fractures are most common in the femur and tibia, and are usually treated with an intramedullary rod, a rod that is inserted within the marrow cavity in the center of the bone. Unfortunately, fractures often take a long time to heal in patients with Paget's disease because of the abnormalities in bone turnover. Another common surgery in patients with Paget's disease is called an osteotomy. In this procedure a wedge of bone is removed to correct a malalignment. This procedure is often necessary when the bones of the legs become misshapen in the later stages of this disease.