Managing Chronic Conditions Classifications Geneticinherited Congenital Metabolic Autoimmune

Managing Chronic Conditions

Classifications Ø Genetic/inherited Ø Congenital Ø Metabolic Ø Autoimmune Ø Degenerative Ø Infectious Ø Chronic – develops slowly and persists for an extended period of time Ø Acute – having a sudden onset and a prompt resolution

Chronic Disease Prevention Ø Usually a healthy lifestyle will help in the prevention of virtually all diseases. Ø Yet there is little known about how to prevent most of the chronic disease. Ø The human body is vulnerable to the effects of aging and the array of disease that we really do not understand yet.

Genetic/Inherited Conditions Ø Genetic or inherited conditions can occur in any of 3 ways: l l l Abnormal genetic material are transmitted from 1 or both parents at conception Abnormal genetic material is formed by mutation of normal genetic material at a very early stage of cellular replication then passed on with each cell doubling Abnormal number of chromosomes, 46, is inherited or formed

Genetic/Inherited Conditions Ø Abnormal Number of Sex Chromosomes l l You get 23 from mom and 23 from dad. 2 of the 46 are sex chromosomes. You get an X from mom and either an X or Y from dad. 44 XX is a female and 44 XY is a male Ø Occasionally people are born who possess more or fewer than the normal 46 because they have more than or fewer than the normal sex chromosomes.

Genetic/Inherited Conditions Ø Klinefelter’s Syndrome – occurs in males and is relatively rare (1 in 1, 000 male births) l l 47 chromosomes – 44 XXY, the Y from dad is combined with 2 XX from mom Advanced maternal age is though to be related to the development of this syndrome Ø These children look normal at birth but slowly show signs by the time they reach puberty.

Genetic/Inherited Conditions Men with Klinefelter’s syndrome are often l tall, l very thin, l have gynecomastia (breast enlargement), l small penis, small testicles and underdeveloped secondary sexual characteristics are typical. Ø It can also cause infertility, and some impairment in learning ability and personality adjustment Ø Many of these characteristics are thought to be caused by the influence of that second X chromosome from the mom. Ø

Genetic/Inherited Conditions Ø Ø Ø Turner’s Syndrome is caused by an altered sex chromosome number. It occurs in females (1 in 5, 000 female births) when one of the 2 X chromosomes is missing resulting in 44 X 0 Equivalent versions of many of the problems seen in men with Klinefelter’s: l Infertility, a characteristic body type, and diminished secondary sex characteristics Treatment involves a carefully coordinated use of human growth hormone to stimulate growth in height and well-being in adulthood and estrogen therapy to feminize the body. Lots of other specialist are usually involved in the overall treatment

Genetic/Inherited Conditions Ø Turner’s Syndrome

Inherited Genetic Mutations Ø Cystic fibrosis claims more children’s and young adults lives than any other inherited condition. Ø In the US 1 in every 2, 000 live births is born with it. Ø Life expectancy has increased from 8 years to about 30 Ø Cystic fibrosis causes a profound disruption in the function of the exocrine glands.

Inherited Genetic Mutations Ø This impaired function is due to the body’s ability to produce a protein that helps regulate chloride content within the secretory cells of various exocrine glands. Ø Exocrine gland - A gland that secretes a substance out through a duct; include the salivary glands, sweat glands and glands within the gastrointestinal tract.

Inherited Genetic Mutations Ø Treatment includes: l l l Special diets to help maintain weight & support growth Respiratory therapy to maintain the health of the airways Newly approved inhaled antobiotic A vaccine effective against CF’s principle pneumonia-causing bacterium New drug to improve the quality of life & increase the life expectancy Some gene-replacement therapy

Inherited Genetic Mutations Ø CF can be tested for before birth. Ø This test does carry a risk of causing miscarriage. Ø If the test on the embryo is positive then counseling can be given to the parents regarding their options. Ø Including whether or not to continue with the pregnancy.

Inherited Genetic Mutations Ø Sickle-cell trait and sickle-cell disease are most often found in African Americans who can possess either form of this abnormal hemoglobin. Ø Approx. 8% of African Americans carry the recessive gene for sickle-cell trait. Ø Approx. 1. 5% have full sickle-cell disease. Ø It is a painful, incapacitating and lifeshortening disease.

Inherited Genetic Mutations Ø The red blood cells are elongated, crescent- shaped and unable to pass through the body’s minute capillaries. Ø The body responds to these cells be removing them very quickly which can lead to anemia, sickle-cell anemia. Ø It is also associated with impaired lung function, congestive heart failure, gallbladder infections, bone changes, abnormalities of the eyes and skin and occasionally, extremely serious pulmonary hypertension.

Inherited Genetic Mutations Ø Effective screening and new medications, people with sickle-cell disease may live to reach 50. Ø In 1% of people with sickle-cell disease, a bone marrow or stem-cell transplant may be able to give the body the ability to produce a normal form of hemoglobin.

Sickle Cell

Sex Chromosome-Linked Inherited Genetic Mutations Ø Genetic mutations located on a maternal sex chromosome (X) present a unique problem for males. Ø Because of the males inability to offset or override the mutated genes influence because he lacks a second X chromosome containing a normal version of the mutated gene. Ø Females have the extra X chromosome so the mutation may be blocked.

Sex Chromosome-Linked Inherited Genetic Mutations Ø Duchenne muscular dystrophy is an inherited condition in which muscle fibers lack the ability to produce a protein called dystrophin, which is necessary for normal muscular function. Ø This absence causes skeletal muscles deterioration, impairing the ability to stand, walk and eventually even breath. Ø Premature death generally occurs because of respiratory collapse.

Sex Chromosome-Linked Inherited Genetic Mutations Ø There are several other forms of muscular dystrophy. Ø It is very rarely seen in females. Ø If it does happen to a female it is almost certainly caused by a mutation in the person’s genetic makeup.

Congenital Abnormalities Ø These abnormalities are present at birth. Ø They are caused by inappropriate changes in tissues during embryonic development. Ø Congenital abnormalities do not involve an atypical number of chromosomes. Ø Any congenital abnormality is caused by the inappropriate or incomplete development of a particular embryonic structure of the failure of a structure to function properly at birth.

Congenital Abnormalities Ø Some abnormalities are so severe that they are incompatible with life within the uterus so the body spontaneously aborts the embryo. Ø Others are life-threatening but are carried full term. Ø Many other cases the abnormality is recognized early and can be corrected, or may be so minor that it is not a problem.

Congenital Abnormalities Ø No single factor is responsible for causing congenital abnormalities. Ø They may be the result of genetic mutation or environmental factors. Ø Most are caused by some complex interplay of factors. Ø Talipes or clubfoot is among the most common congenital abnormalities, affecting 1 of every 1, 000 infants.

Congenital Abnormalities Ø There appears to be a genetic disposition for talipes, yet the specific cause or causes are unknown. Ø Treatment begins soon after birth with a combination of manipulation of the foot followed by a series of plaster casts. Ø Some talipes require surgery while others only stretching exercises performed regularly along with casting work

Talipes (Club Foot)

Congenital Abnormalities Ø Cleft palate & cleft lip occur when the structures of the face form as separate halves on each side of the midline. Ø One of these conditions occurs in 1 of every 800 live births. Ø Environmental factors such as the use of certain medications during pregnancy, alcohol use and smoking. Ø Surgery is recommended to correct both conditions and to prevent difficulties.

Congenital Abnormalities Ø Cleft lip and cleft palate are diagnosed at delivery. Ø Cleft lip is repaired at 3 -4 months of age. Ø Cleft palate before age 2.

Congenital Abnormalities Ø Scoliosis is an abnormal lateral spinal curvature. Ø Curvatures that are less than 10 degrees are considered postural malalignments and do not require surgery. Ø Scoliosis starts as a lateral deviation of the spine and can progress to an “S” shape. Ø If uncorrected a rotation can develop.

Congenital Abnormalities Ø Advanced scoliosis can lead to the chest compressing the heart, lungs and related structures that pass through the middle of the chest. Ø The scoliosis initially develops during the rpeteen years and progressively worsens until the spine stops growing after puberty. Ø Screenings are done during the 4 th and 6 th grades.

Congenital Abnormalities Ø 3 treatment options: l l l Do nothing Use a brace Undergo surgery Ø Only 2% of females and 1% of males have scoliosis.

Metabolic Disorders Ø Metabolic disorders are caused by the body’s inability to control chemical processes that regulate the building up and tearing down of tissue. Ø These are caused directly by abnormal function. Ø Diabetes mellitus has 2 principle forms l Type I & Type II Ø Insulin – a hormone produced by the islet cells of the pancreas that is necessary for the normal utilization of glucose

Metabolic Disorders Ø Type II or non-insulin-dependent diabetes is caused by a growing ineffectiveness of insulin in moving glucose into cells causes the buildup of glucose in the blood. Ø Hyperglycemia – the condition of having an abnormally high blood glucose level, a hallmark symptom of Type II diabetes mellitus Ø This causes the kidneys to begin the process of filtering glucose from the blood.

Metabolic Disorders Ø Excess glucose then spills over into the urine, this removal of glucose in the urine is a 2 nd important symptom. Ø Increased thirst, 3 rd symptom, occurs in response to the movement of fluid from extracelluar spaces into the circulatory system to maintain homeostasis Ø Diet modification, weight loss and regular exercise is the only treatment required to maintain an acceptable level of glucose.

Metabolic Disorders Ø Advance stages require medication. Ø 18 million people are known to have Type II diabetes and 41 million people are in a prediabetic state with 5. 2 million undiagnosed for either condition. Ø There is noted increase in the numbers among Hispanic American, especially those of Mexican descent. Ø This may be related to a genetic marker that was recently found.

Metabolic Disorders Ø The American Diabetes Association recommends a blood glucose of 90 -130 mg/dl between meals and a level less than 180 mg/dl at 2 hours after beginning a meal. Ø Blood pressure in those individuals susceptible to developing Type II diabetes should keep their blood pressure readings less than 135/80.

Metabolic Disorders Ø Type I or insulin-dependent usually occurs before age 35, most often during childhood. Ø In Type I diabetes the body does not produce any insulin. Ø This is caused by destruction of the insulinproducing cells of the pancreas by the immune system. Ø Treatment is accomplished by obtaining insulin from an outside source.

Metabolic Disorders Ø When people with Type I diabetes do not eat enough, exercise too much, or take too much insulin they may develop excessively low levels of blood sugar resulting in hypoglycemia. Ø Hypoglycemia is a condition of having an abnormally low blood glucose level. Ø This can also occur in nondiabetic people.

Metabolic Disorders Ø For nondiabetics it may also be associated with drug use, liver damage, partial removal of the stomach, fasting, pancreatic tumors or as a prediabetic symptoms. Ø Classic hypoglycemia symptoms are headaches, mild confusion, low energy levels, anxiety, sweating and tremors, may look pale and behave somewhat abnormally. Ø Treatment usually involves diet modification.

Autoimmune/Hypersensitivity Disorders Ø On occasion, however, the immune system fails to recognize the body’s own protein as being familiar and mistakenly identifies its own protein as foreign and begins attacking it in an attempt to protect the body. Ø This results in an autoimmune disorder. Ø Fibromyalgia is a chronic condition with symptoms that are so complex an affected person might never be diagnosed and treated despite years of discomfort.

Autoimmune/Hypersensitivity Disorders Ø 2% of people are thought to have fibromyalgia. Ø Intermittent periods of morning stiffness, muscle pain, fatigue, numbness and tingling, poor sleep, chronic headaches, jaw discomfort and many other problems are often seen as signs of aging or stress. Ø Actually they can be signs of fibromyalgia.

Autoimmune/Hypersensitivity Disorders Ø The cause of fibromyalgia is unclear. Ø It may be an immune system dysfunction, altered neurotransmitter regulation, hormonal abnormalities or subtle brain dysfunction are the cause. Ø Preventive measures for fibromyalgia might be to reduce stress levels, avoid infections and maintain a high level of overall health.

Autoimmune/Hypersensitivity Disorders Ø Ruling out lupus, rheumatoid arthritis thyroid disease and chronic fatigue syndrome are important. Ø Diagnosis is based on medical history and the assessment of discomfort in 11 out of 18 so-called tenderpoint locations. Ø Treatment centers on improving sleep and reducing pain. Ø Sleep meds, NSAIDs, mild sedatives and muscle relaxants

Autoimmune/Hypersensitivity Disorders Ø Asthma is a chronic respiratory disease characterized by acute attacks of breathlessness and wheezing caused by chronic airway inflammation with episodes of narrowing of the bronchioles. Ø Extrinsic asthma – allergens such as pollen, dust mites, mold spores, animal fur or dander and feathers produce sudden and severe bronchoconstriction that narrows the airways.

Autoimmune/Hypersensitivity Disorders Ø Intrinsic asthma – caused by stress, frequent respiratory tract infections, hormone replacement therapy or possibly by the aftereffects of maternal antibiotic during pregnancy Ø What about exercise induced asthma? Ø Is asthma used as an excuse by some?

Autoimmune/Hypersensitivity Disorders Ø Prevention or management includes a combination of approaches. Ø Maintenance of high-level wellness though a healthful lifestyle that includes: l l l A sound diet Regular exercise And effective stress management For extrinsic asthma treat the causes Medications are also available

Autoimmune/Hypersensitivity Disorders Ø Crohn’s disease is a type of inflammatory bowel disease and is an erosive deterioration of the inner surface and muscular layer of the intestinal wall that affects nearly 500, 000 Americans. Ø It most often affects the terminal end of the small intestine and the beginning of the large intestine or colon.

Autoimmune/Hypersensitivity Disorders Ø Symptoms include abdominal pain in the lower right quadrant, fever, diarrhea, weight loss and rectal bleeding that leads to anemia. Ø A genetic disposition and a history of emotional stress may be the principle factors. Ø The symptoms lead the doctor to perform tests to determine what type of IBD the patient has. Ø Medications usually treat Crohn’s but surgery may be needed to remove obstructions.

Autoimmune/Hypersensitivity Disorders Ø Lupus is one of the most familiar autoimmune disorders or connective tissue disorders. Ø These disorders are caused by an extensive and inappropriate attack by the body’s immune system on its own tissues, which then serve as self-antigens. Ø Self-antigens are the cells and tissues that stimulate the immune system’s autoimmune response.

Autoimmune/Hypersensitivity Disorders Ø Systemic lupus erythematosus l l Systemic – throughout the entire body system Erythema – red, refers to the reddish rash that imparts a characteristic mask to the face Ø Seen in women 25 times more often than in men and it first appears during young adulthood. Ø Autoimmune antibodies may first appear in the blood as much as a decade before the first observable symptoms appear.

Autoimmune/Hypersensitivity Disorders Ø Higher incidence of lupus reported among African American women and women of Hispanic and Asian origin than among other women. Ø Intermittent periods of inflammation, stiffness, fatigue, pleurisy and discomfort over wide areas of the body including muscles, joints and skin. Ø There is no real prevention.

Autoimmune/Hypersensitivity Disorders Ø Treatment includes NSAIDs, malarial drugs for the skin rash, and a low dose prednisone to reduce fever, treat episodes of pleurisy and minimize certain neurological symptoms. Ø Periods of active lupus (flares) are often triggered by exposure to the sun, periods of fatigue or an infectious disease.

Autoimmune/Hypersensitivity Disorders Ø In the progressive disease multiple sclerosis, the cells that produce myelin are destroyed, myelin production ceases and the underlying nerves are badly damaged. Ø Neurological functions eventually becomes so disrupted that vital functions are significantly impaired. Ø The cause of MS is unknown. Ø Evidence points to some link between the Epstein-Barr virus Antigen.

Autoimmune/Hypersensitivity Disorders Ø MS usually appears for the first time during the young adult years in one of 4 forms. Ø Initial symptoms are often visual impairment, prickling and burning in the extremities, and an altered gait. Ø In its most advanced stages, movement is greatly impaired and mental deterioration may be present. Ø Children showing tremors or reporting intermittent dimming of vision should be seen by a pediatric neurologist.

Autoimmune/Hypersensitivity Disorders Ø The definitive diagnosis of MS is made through MRI scans for lesions in the spinal nerves or the brain. Ø Treatment is aimed at reducing the severity of symptoms and extending the periods of remission. Ø A variety of drugs, injections and physical therapy are used.

Degenerative Diseases Ø Conditions within this category are among the most debilitating of all chronic conditions in that they generally appear late in life, in conjunction with the overall frailty of advanced age. Ø Parkinson’s Disease involves the chronic progressive loss of dopamine production within specific areas of the brain

Degenerative Diseases Ø 4 primary signs: l l Tremor or trembling in the hands, arms, kegs, jaw & face Rigidity or stiffness of the limbs or trunk Slowness of movement Postural instability and impaired balance As symptoms worsen people become less able to walk, talk and perform simple tasks associated with daily living. Ø These sign can also be associated with other conditions: head injury, tumors, prolonged use of tranquilizers and manganese & carbon monoxide poisoning. Ø

Degenerative Diseases Ø 1 in 5 elderly Americans shows some Parkinsonian signs. Ø 500, 000 Americans have been diagnosed with primary Parkinson’s and about 50, 000 new cases are diagnosed annually. Ø Usually first seen in people over 50 with 60 being the average at first diagnosis. Ø Whites are more likely to be diagnosed.

Degenerative Diseases Ø 3 theories behind the cause of Parkinson’s: l l l Free radicals – highly excited unstable chemical compounds Environmental toxins Inherited disposition associated with genetic material found within the mitochondria of cells

Degenerative Diseases Ø Parkinson’s is diagnosed by a neurologist with MRI and CT scans. Ø There are some drugs available to delay the progression. Ø Xenotransplant – a transplant of tissue from an animal such as a pig to a human Ø Electrodes have also been implanted in the brain to reduce tremors.

Degenerative Diseases Ø Alzheimer’s disease – adult-onset form of dementia resulting from loss of acetylcholine production within specific areas of the brain Ø Affects approx. 4 -5 million adults in the US. Ø Initial signs are often subtle and may be confused with mild depression or frontotemporal dementia Ø Dementia – the loss of cognitive abilities, including memory and reason

Degenerative Diseases Ø There is no real treatment and no cure at this time. Ø Most of these chronic conditions and degenerative disease are associated with the effects of aging. Ø For most of them you can try to manage the effects. Ø For almost all of them there is no cure.