Metabolic and Endocrine Pathologies Flashcards
Addisons Disease
- adrenal dysfunction that presents with hypofunction of the adrenal cortex
- decreased production of both cortisol and aldosterone
Etiology: when adrenal cortex produces insufficient cortisol and aldosterone hormones
s/s: widespread metabolic dysfunction, fluid and electrolyte imbalance, hypotension, weakness, anorexia, weight loss, altered pigmentation; if left untreated, can result in shock and death
treatment: long-term pharmacological intervention using synthetic corticosteroid and mineralocorticoids
Cushings syndrome
- adrenal dysfunction that presents with hyperfunction of the adrenal glands, allowing excessive amounts of cortisol production
etiology: when the pituitary gland produces excessive adrenocorticotropic hormone with subsequent hypercortisolism
s/s: persistent hyperglycemia, growth failure, truncal obesity, purple abdominal striae, moon shaped face, buffalo hump, weakness, acne, hypertension, male gynecomastia, depression, poor concentration, memory loss
treatment: pharmacological intervention to block the production of the hormones, radiation, chemotherapy, surgery
DM I vs DM 2
DM I
- onset: usually less than 25 years of age
- abrupt onset
- 5-10% of all cases
- etiology: destruction of islets of langerhans cells secondary to possible autoimmune or viral causative factor
- insulin production: very little or none
- ketoacidosis can occur and polyphagia, weight loss, polyuria, polydipsia, blurred vision, dehydration, and fatigue
- treatment: insulin injections, exercise, diet
DM 2
- onset: usually older than 45 ears of age
- gradual onset
- 90-95% of all cases
- etiology: resistance at insulin receptor sites usually secondary to obesity; ethnic prevalence
- insulin production: variable
- ketoacidosis will rarely occur
- treatment: weight loss, oral insulin, exercise, and diet
diabetes testing
fasting plasma glucose: 8 hours after last intake of food or drink; positive if blood glucose level is >125 mg/dL (normal is <100)
oral glucose tolerance test: taken two hours after ingestion of sugary drink; positive if blood glucose level is 200 mg/dL (normal is <140)
A1c testing: based on attachment of glucose to hemoglobin that measures average blood glucose level over last few months; positive if A1c level is 6.5% or greater (normal is <5.7)
Graves Disease
- most specific cause of hyperthyroidism
- most common in women over age 20 but can occur in any gender or age
etiology: caused by an autoimmune disease in which certain antibodies produced by the immune system stimulate the thyroid gland causing it to become overactive
s/s: consistent with hyperthyroidism; mild enlargement of thyroid gland (goiter), heat intolerance, nervousness, weight loss, tremor, and palpitations
treatment: pharmacological interventions; removal of thyroid gland using radiation or surgical interventions
hyperparathyroidism
- occurs due to excessive levels of hormone production by the parathyroid gland that leads to disruption of calcium, phosphate, and bone metabolism
- symptoms may include renal stones and kidney damage, depression, memory loss, muscle wasting, bone deformity, and myopathy
- acute treatment may include pharmacological intervention that produces an immediate lowering of serum calcium using diuretics or antiresorptive medications
- surgical intervention is usually required to remove the diseased parathyroid gland
- pharmacological intervention may be used prior to surgery or for long term management
hypoparathyroidism
- occurs due to hyposecretion or low-level production of parathyroid hormone by the parathyroid gland
- symptoms may include hypocalcemia, neurological symptoms such as seizures, cognitive defects, short stature, tetany, muscle pain, and cramps
- acute treatment requires rapid elevation in serum calcium levels through intravenous calcium
- long term treatment includes pharmacological management and dietary modification
hyper vs hypo parathyroidism
hypo
- decreased bone resorption
- hypocalcemia
- elevated serum phosphate levels
- shortened 4th and 5th metacarpals (pseudohypoparathyroidism)
- compromised breathing due to intercostal muscle and diaphragm spasms
- cardiac arrhythmias and potential heart failure
- increased neuromuscular activity that can result in tetany
hyper
- increased bone resorption
- hypercalcemia
- decreased serum phosphate levels
- osteitis fibrosa, subperiosteal resorption, arthritis, bone deformity
- nephrocalcinosis, renal hypertension, and significant renal damage
- gout
- decreased neuromuscular irritability
hyperpituitarism
- occurs when there is an excessive secretion of one or more hormones under the pituitary glands control
- disorders and symptoms depend on the hormones affected
- can include gigantism, acromegaly, hirsutism, galactorrhea, amenorrhea, infertility, and impotence
- treatment is hormone and site dependent, can include tumor resection, surgery, radiation therapy and hormone suppression/replacement
hypopituitarism
- there is a decreased or absent hormonal secretion from the anterior pituitary gland
- rare disorder
- typical disorders and symptoms include dwarfism, delayed growth and puberty, sexual anti reproductive disorders, and diabetes insipidus
- treatment is also based on deficit hormones and usually includes pharmacological replacement therapy
hyperthyroidism
- excessive levels of thyroid hormones in the bloodstream
- symptoms can include an increase in nervousness, excessive sweating, weight loss, increase in blood pressure, exophthalmos, myopathy, chronic periarthritis, and an enlarged thyroid gland
- treatment may include pharmacological intervention, radioactive iodine, and surgery
hypothyroidism
- decreased levels of thyroid hormone in the blood stream, slowing metabolic processes within the body
- symptoms include fatigue, weakness, decreased heart rate, weight gain, constipation, delayed puberty, and retarded growth and development
- common causes include hashimotos thyroiditis or an underdeveloped thyroid glan
- treatment includes oral thyroid hormone replacement therapy
hypo vs hyper thyroidism
hypo
- depression, anxiety, increased lethargy, fatigue, headache, slowed speech, slowed mental function, impaired short-term memory
- proximal muscles weakness, carpal tunnel syndrome, trigger points, myalgia, increased bone density, cold intolerance, paresthesias
- dyspnea, bradycardia, CHF, respiratory muscle weakness, decreased peripheral circulation, angina, increase in cholesterol
- anorexia, constipation, weight gain, decreased absorption of food and glucose
- infertility, irregular menstrual cycle, increased menstrual bleeding
hyper
- tremors, hyperkinesis, nervousness, increased DTR’s, emotional lability, insomnia, weakness, atrophy
- chronic periarthritis, heat intolerance, flushed skin, hyperpigmentation, increased hair loss
- tachycardia, palpitations, increased respiratory rate, increase in blood pressure, arrhythmias
- hypermetabolism, increased appetite, increased peristalsis, nausea, vomiting, diarrhea, dysphagia
- polyuria, infertility, increased first trimester miscarriage, amenorrhea
male hypogonadism
- primary is defined as a deficiency of testosterone secondary to failure of the testes to respond to FSH and LH
- most common cause of primary is Klinefelters syndrome
- secondary occurs when there is a failure of the hypothalamus or pituitary to produce the hormones that will stimulate the production of testosterone
- occurs before puberty: symptoms will include sparse body hair, underdevelopment of skeletal muscles, and long arms and legs secondary to a delay in the closure of the epiphyseal growth plates
- adult onset will present with a decreased libido, erectile dysfunction, infertility, decreased cognitive skills, mood changes, and sleep disturbances
- treatment includes hormone replacement pharmacological intervention
female hypogonadism
- primary results if the gonad does not produces the amount of sex steroid sufficient to suppress secretion of LH and FSH at normal levels
- the most common cause of primary is Turner syndrome
- secondary hypogonadism occurs when there is a failure of the hypothalamus or pituitary to produce the hormones that subsequently stimulate the production of estrogen
- pre puberty symptoms will include gonadal dysgenesis, a short stature, failure to progress through puberty or primary amenorrhea, and premature gonadal failure
- adult onset symptoms include secondary amenorrhea
- treatment includes hormone replacement pharmacological intervention
metabolic acidosis
- when there is an accumulation of acids due to an acid gain or bicarbonate loss, pH drops below 7.35
etiology: renal failure, lactic acidosis, starvation, diabetic or alcoholic ketoacidosis, severe diarrhea, or poisoning by certain toxins
s/s: compensatory hyperventilation, vomiting, diarrhea, headache, weakness, and malaise, hyperkalemia, and cardiac arrhythmias. Untreated can lead to coma and death
treatment: managing underlying cause, correcting any coexisting electrolyte imbalance, and administering sodium bicarbonate
metabolic alkalosis
- when there is an increase in bicarbonate accumulation or an abnormal loss of acids, pH rises above 7.45
etiology: when there has been continuous vomiting, ingestion of antacids, or other alkaline substances or diuretic therapy . May also be associated with hypokalemia or nasogastic suctioning
s/s: nausea, diarrhea, prolonged vomiting, confusion, muscle fasiculations, muscle cramping, neuromuscular hyperexcitability, convulsions, parethesias, hypoventilation. If left untreated, patient can experience seizures, and respiratory paralysis
treatment: managing underlying cause, correcting coexisting electrolyte imbalances, and administering potassium chloride to the patient
osteomalacia
- where bones become soft secondary to calcium or phosphorus deficiency. there is adequate bone matrix, but insufficient calcification of the matrix
etiology: calcium is lost secondary to inadequate intestinal absorption and the phosphorus is lost secondary to an increase in renal excretion. Deficiency in vitamin D will also cause this
s/s: aching, fatigue and weight loss, myopathy and sensory polyneuropathy, periarticular tenderness and pain, thoracic kyphosis, and bowing of lower extremities, difficulty performing transfers and standing
treatment: focus on underlying etiology. Increased nutrition and pharmacological intervention may include vitamin D or phosphate supplements
osteoporosis
- decrease in bone mass that subsequently increases the risk of fracture
- primarily affects trabecular and cortical bone where the rate of resorption accelerates while the rate of bone formation declines
- declining osteoblast function coupled with loss of calcium and phosphate salts will cause bones to be brittle
etiology: primary can include idiopathic, post menopausal, or involutional. Secondary can occur as a result of another primary condition or with use of certain medications
s/s: compression and bone fractures, thoracic or lumbar pain, loss of lumbar lordosis, deformities such as kyphosis, decrease in height, dowagers hump, and postural changes
treatment: vitamins and pharmacological treatment, proper nutrition, assistive devices, patient education, surgical intervention
Pagets disease
- heightened osteoclast activity
- lacks true structural integrity
- bone appears large but lacks strength due to the high turnover of bone secondary to abnormal osteoclastic proliferation
etiology: genetic component as well as geographical incidence, most commonly affects patients over 50 years old
s/s: msk pain and bony deformities, continued pain, headache, vertigo, hearing loss, mental deterioration, fatigue, increased cardiac output, heart failure
treatment: pharmacological intervention using bisphosphonates in order to inhibit bone resorption and improve quality of involved bone, exercise, weight control, and cardiac fitness are key
phenylketouria
- consists of intellectual disability as well as behavioral and cognitive issues secondary to an elevation of phenylalanine hydroxylase
- normally, excessive phenylalanine is converted to tyrosine by phenylalanine hydroxylase
- the brain is the primary organ that becomes affected
- children in the united states are tested at birth for PKU and levels greater than 6 of phenylalanine require treatment
etiology: autosomal recessive inherited trait and is most common in caucasian populations
s/s: appear shortly after birth; gait disturbances, hyperactivity, psychoses, abnormal body order, display features that are lighter when compared to other family members
treatment: dietary restriction of phenylalanine throughout the person’s lifetime
tay-sachs disease
- absence of deficiency of hexosaminidase A
- this produces an accumulation of gangliosides within the brain
etiology: autosomal recessive inherited trait in Jewish population
s/s at approximately 6 mo, the child will start to miss developmental milestones and will continue to deteriorate in motor and cognitive skills; usually will die by age 5
treatment: no effective treatment
wilsons disease
- a rare inherited disorder that can occur in anyone
- appears in people under 40 and symptoms can develop in children between 4-6
etiology: autosomal recessive inherited trait that produces a defect in the bodys ability to metabolize copper
s/s: appear between 4-6, include kayser-fleischer rings surrounding the iris secondary to copper deposits; degenerative changes in the brain, hepatitis, cirrhosis, athetoid movements, ataxic gait patterns
treatment: continual pharmacological intervention using vitamin B6 and D-penicillamine as both promote the excretion of excess copper from the body . treatment should also focus on prevention of hepatic disease
