(bookmark this) Master list of Endocrine, nutritional and metabolic diseases: [en.wikipedia.org]

Iron levels too high

Iron overload

Organs commonly affected by haemochromatosis are the liver, heart, and endocrine glands.[15]

Haemochromatosis may present with the following clinical syndromes:[16]

Cirrhosis of the liver
Diabetes due to pancreatic islet cell failure
Cardiomyopathy
Arthritis (iron deposition in joints)
Testicular failure
Tanning of the skin
Joint pain and bone pain[17]

Aceruloplasminemia

Aceruloplasminemia is an autosomal recessive[1] disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.

Iron accumulates in the pancreas, liver and brain. Accumulation in the eye may lead to retinal degeneration. The disease is caused by mutations in the ceruloplasmin gene.[2]

Atransferrinemia

Atransferrinemia, also called familial hypotransferrinemia,[1] is an autosomal recessive[2] metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.

Atransferrinemia is characterized by anemia and hemosiderosis in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). Atransferrinemia is extremely rare, with only eight cases documented worldwide.[3]

Severe microcytic hypochromic anemia, growth retardation and recurrent infections are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, kidney and bone joints, leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism. Death may occur due to heart failure or pneumonia

Hemosiderosis

Hemosiderosis (AmE) or haemosiderosis (BrE) is a form of iron overload disorder resulting in the accumulation of hemosiderin.

Types include:

Transfusion hemosiderosis
Idiopathic pulmonary hemosiderosis

Hemosiderin deposition in the lungs is often seen after diffuse alveolar hemorrhage, which occurs in diseases such as Goodpasture's syndrome, Wegener's granulomatosis, and idiopathic pulmonary hemosiderosis. Mitral stenosis can also lead to pulmonary hemosiderosis. Hemosiderin collects throughout the body in hemochromatosis. Hemosiderin deposition in the liver is a common feature of hemochromatosis and is the cause of liver failure in the disease. Deposition in the pancreas leads to diabetes and in the skin leads to hyperpigmentation. Hemosiderin deposition in the brain is seen after bleeds from any source, including chronic subdural hemorrhage, Cerebral arteriovenous malformations, cavernous hemangiomata. Hemosiderin collects in the skin and is slowly removed after bruising; hemosiderin may remain in some conditions such as stasis dermatitis. Hemosiderin in the kidneys have been associated with marked hemolysis and a rare blood disorder called paroxysmal nocturnal hemoglobinuria.

Hemosiderin may deposit in diseases associated with iron overload. These diseases are typically diseases in which chronic blood loss requires frequent blood transfusions, such as sickle cell anemia and thalassemia, though beta thalassemia minor has been associated with hemosiderin deposits in the liver in those with non-alcoholic fatty liver disease independent of any transfusions.[1][2]


Iron levels too low

Iron deficiency

Iron deficiency (sideropenia or hypoferremia) is one of the most common of the nutritional deficiencies. Iron is present in all cells in the human body, and has several vital functions. Examples include as a carrier of oxygen to the tissues from the lungs in the form of hemoglobin, as a transport medium for electrons within the cells in the form of cytochromes, and as an integral part of enzyme reactions in various tissues. Too little iron can interfere with these vital functions and lead to morbidity and death.

Symptoms of iron deficiency can occur even before the condition has progressed to iron deficiency anaemia.

Symptoms of iron deficiency are not unique to iron deficiency (i.e. not pathognomonic). Iron is needed for many enzymes to function normally, so a wide range of symptoms may eventually emerge, either as the secondary result of the anemia, or as other primary results of iron deficiency. Symptoms of iron deficiency include:

fatigue
dizziness
pallor
hair loss
Twitches
irritability
weakness
pica
brittle or grooved nails
Plummer-Vinson syndrome: painful atrophy of the mucous membrane covering the tongue, the pharynx and the esophagus
impaired immune function[1]
pagophagia
restless legs syndrome[2]


Copper levels too high

Copper toxicity

Copperiedus refers to the consequences of an excess of copper in the body. Copperiedus can occur from eating acid foods cooked in uncoated copper cookware, or from exposure to excess copper in drinking water or other environmental sources.


copper deposits found in the cornea, is an indication the body is not metabolizing copper properly

Acute symptoms of copper poisoning by ingestion include vomiting, hematemesis (vomiting of blood), hypotension (low blood pressure), melena (black "tarry" feces), coma, jaundice (yellowish pigmentation of the skin), and gastrointestinal distress.[2] Individuals with glucose-6-phosphate deficiency may be at increased risk of hematologic effects of copper.[2] Hemolytic anemia resulting from the treatment of burns with copper compounds is infrequent.[2]

Chronic (long-term) effects of copper exposure can damage the liver and kidneys.[3] Mammals have efficient mechanisms to regulate copper stores such that they are generally protected from excess dietary copper levels.[3]

Wilson disease

Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.[1]

The main sites of copper accumulation are the liver and the brain, and consequently liver disease and neuropsychiatric symptoms are the main features that lead to diagnosis.[1] People with liver problems tend to come to medical attention earlier, generally as children or teenagers, than those with neurological and psychiatric symptoms, who tend to be in their twenties or older. Some are identified only because relatives have been diagnosed with Wilson's disease; many of these, when tested, turn out to have been experiencing symptoms of the condition but haven't received a diagnosis.[3]
Liver disease

Liver disease may present itself as tiredness, increased bleeding tendency or confusion (due to hepatic encephalopathy) and portal hypertension. The latter, a condition in which the pressure in the portal vein is markedly increased, leads to esophageal varices, blood vessels in the esophagus that may bleed in a life-threatening fashion, as well as enlargement of the spleen and accumulation of fluid in the abdominal cavity. On examination, signs of chronic liver disease such as spider naevi (small distended blood vessels, usually on the chest) may be observed. Chronic active hepatitis has caused cirrhosis of the liver in most by the time they develop symptoms. While most people with cirrhosis have an increased risk of hepatocellular carcinoma (liver cancer), this risk is relatively very low in Wilson's disease.[1]

About 5% of all people are diagnosed only when they develop fulminant acute liver failure, often in the context of a hemolytic anemia (anemia due to the destruction of red blood cells). This leads to abnormalities in protein production (identified by deranged coagulation) and metabolism by the liver. The deranged protein metabolism leads to the accumulation of waste products such as ammonia in the bloodstream. When these irritate the brain, the person develops hepatic encephalopathy (confusion, coma, seizures and finally life-threatening swelling of the brain).[1]

Eyes: Kayser–Fleischer rings (KF rings), a pathognomonic sign, may be visible in the cornea of the eyes, either directly or on slit lamp examination as deposits of copper in a ring around the cornea. They are due to copper deposition in Descemet's membrane. They do not occur in all people with Wilson's disease. Wilson's disease is also associated with sunflower cataracts exhibited by brown or green pigmentation of the anterior and posterior lens capsule.[5] Neither cause significant visual loss.[1] KF rings occur in approximately 66% of diagnosed cases (more often in those with neurological symptoms rather than with liver problems).[3]
Kidneys: renal tubular acidosis, a disorder of bicarbonate handling by the proximal tubules leads to nephrocalcinosis (calcium accumulation in the kidneys), a weakening of bones (due to calcium and phosphate loss), and occasionally aminoaciduria (loss of essential amino acids needed for protein synthesis).[1]
Heart: cardiomyopathy (weakness of the heart muscle) is a rare but recognized problem in Wilson's disease; it may lead to heart failure (fluid accumulation due to decreased pump function) and cardiac arrhythmias (episodes of irregular and/or abnormally fast or slow heart beat).[1]
Hormones: hypoparathyroidism (failure of the parathyroid glands leading to low calcium levels), infertility, and habitual abortion.[1]


Copper levels too low

Copper deficiency

Copper deficiency is a very rare hematological and neurological disorder.[1][2][3] The neurodegenerative syndrome of copper deficiency has been recognized for some time in ruminant animals, in which it is commonly known as "swayback"[3] The disease involves a nutritional deficiency in the trace element copper.[3] Copper is ubiquitous and daily requirement is low making acquired copper deficiency very rare. Copper deficiency can manifest in parallel with vitamin B12 and other nutritional deficiencies .[2] The most common cause of copper deficiency is a remote gastrointestinal surgery, such as gastric bypass surgery, due to malabsorption of copper, or zinc toxicity.

Hematological Presentation
Ring Sideroblast smear 2010-01-13

The characteristic hematological (blood) effects of copper deficiency are anemia (which may be microcytic, normocytic or macrocytic) and neutropenia.[1] Thrombocytopenia (low blood platelets) is unusual.[2][6]

The peripheral blood and bone marrow aspirate findings in copper deficiency can mimic myelodysplastic syndrome.[7] Bone marrow aspirate in both conditions may show dysplasia of blood cell precursors and the presence of ring sideroblasts (erythoblasts containing multiple iron granules around the nucleus). Unlike most cases of myelodysplastic syndrome, the bone marrow aspirate in copper deficiency characteristically shows cytoplasmic vacuoles within red and white cell precursors, and karyotyping in cases of copper deficiency does not reveal cytogenetic features characteristic of myelodysplastic syndrome.[1][6]

Anemia and neutropenia typically resolve within six weeks of copper replacement.[7]
Neurological Presentation

Copper deficiency can cause a wide variety of neurological problems including, myelopathy, peripheral neuropathy, and optic neuropathy.[3][6]

Menkes disease

Menkes disease (MNK), also called Menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome,[1][2] is a disorder that affects copper levels in the body,[3] leading to copper deficiency.[4] It is an x-linked recessive disorder, and is therefore considerably more common in males: females require two defective alleles to develop the disease.

MNK is characterized by growth failure, and deterioration of the nervous system. Onset of Menkes syndrome typically begins during infancy. Signs and symptoms of this disorder include weak muscle tone (hypotonia), sagging facial features, seizures, mental retardation, and developmental delay. The patients have brittle hair and metaphyseal widening. In rare cases, symptoms begin later in childhood and are less severe. Affected infants may be born prematurely. Symptoms appear during infancy and are largely a result of abnormal intestinal copper absorption with secondary deficiency in copper-dependent mitochondrial enzymes. Normal or slightly slowed development may proceed for 2 to 3 months, and then there will be severe developmental delay and a loss of early developmental skills. Menkes Disease is also characterized by seizures, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is kinky, colorless or steel-colored, and easily broken. There can be extensive neurodegeneration in the gray matter of the brain.[6] Arteries in the brain can also be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.

Occipital horn syndrome (sometimes called X-linked cutis laxa or Ehlers-Danlos type 9[7]), is a mild form of Menkes syndrome that begins in early to middle childhood. It is characterized by calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose skin and joints.


Zinc levels too high

Zinc toxicity

Even though zinc is an essential requirement for a healthy body, excess zinc can be harmful, and cause zinc toxicity.[1] Excessive absorption of zinc can suppress copper and iron absorption. The free zinc ion in solution is highly toxic to plants, invertebrates, and even vertebrate fish. The Free Ion Activity Model (FIAM) is well-established in the literature, and shows that just micromolar amounts of the free ion kills some organisms. A recent example showed 6 micromolar killing 93% of all Daphnia in water.[2]

The free zinc ion is also a powerful Lewis acid up to the point of being corrosive. Stomach acid contains hydrochloric acid, in which metallic zinc dissolves readily to give corrosive zinc chloride. Swallowing a post-1982 American one cent piece (97.5% zinc) can cause damage to the stomach lining due to the high solubility of the zinc ion in the acidic stomach.[3]

There is evidence of induced copper deficiency at low intakes of 100–300 mg Zn/d. The USDA RDA is 15 mg Zn/d. Even lower levels, closer to the RDA, may interfere with the utilization of copper and iron or to adversely affect cholesterol.[4]

There is also a condition called the "zinc shakes" or "zinc chills" or metal fume fever that can be induced by the inhalation of freshly formed zinc oxide formed during the welding of galvanized materials.[5]


Zinc levels too low

Acrodermatitis enteropathica

Acrodermatitis enteropathica is an autosomal recessive[1] metabolic disorder affecting the uptake of zinc, characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea.

Similar features may be present in acquired zinc deficiency. This disease also is related to deficiency of zinc due to congenital causes.

Features of acrodermatitis enteropathica start appearing in the first few months of life, as the infant discontinues breast milk. There are erythematous patches and plaques of dry, scaly skin. The lesions may appear eczematous, or may evolve further into crusted vesicles, bullas or pustules. The lesions are frequent around the mouth and anus, and also in hands, feet and scalp. There may be suppurative inflammation of the nail fold surrounding the nail plate - known as paronychia. Alopecia - loss of hair from scalp, eyebrows and eyelashes may occur. The skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi like Candida albicans. These skin lesions are accompanied by diarrhea.

(electrolytes errors will follow next)

Sodium levels too high

Hypernatremia

Hypernatremia or hypernatraemia (see American and British English spelling differences) is an electrolyte disturbance that is defined by an elevated sodium level in the blood.[1] Hypernatremia is generally not caused by an excess of sodium, but rather by a relative deficit of free water in the body. For this reason, hypernatremia is often synonymous with the less precise term, dehydration.

Water is lost from the body in a variety of ways, including perspiration, imperceptible losses from breathing, and in the feces and urine. If the amount of water ingested consistently falls below the amount of water lost, the serum sodium level will begin to rise, leading to hypernatremia. Rarely, hypernatremia can result from massive salt ingestion,[2][3] such as may occur from drinking seawater.

Ordinarily, even a small rise in the serum sodium concentration above the normal range results in a strong sensation of thirst, an increase in free water intake, and correction of the abnormality. Therefore, hypernatremia most often occurs in people such as infants, those with impaired mental status, or the elderly, who may have an intact thirst mechanism but are unable to ask for or obtain water.

Clinical manifestations of hypernatremia can be subtle, consisting of lethargy, weakness, irritability, neuromuscular excitability, and edema. With more severe elevations of the sodium level, seizures and coma may occur.

Sodium levels too low

Hyponatremia [/ur]

Hyponatremia (American English) or hyponatraemia (British English) is an electrolyte disturbance in which the sodium (salt) concentration in the serum is lower than normal (Hypo = low; natraemia = sodium in blood). Serum is the watery part of the blood which flows through your blood vessels and moves freely into the interstitial spaces (the spaces between the cells). Sodium is the dominant extracellular cation (positive ion) and cannot freely cross from the interstitial space through the cell membrane, into the cell. Its homeostasis (stability of concentration) inside the cell is vital to the normal function of any cell. Normal serum sodium levels are between 135 and 145 mEq/L. Hyponatremia is defined as a serum level of less than 135 mEq/L and is considered severe when the serum level is below 125 mEq/L.[1]

In the vast majority of cases, hyponatremia occurs as a result of excess body water diluting the serum sodium (salt level in the blood).

Hyponatremia is often a complication of other medical illnesses in which excess water accumulates in the body at a higher rate than can be excreted (for example in congestive heart failure, syndrome of inappropriate antidiuretic hormone, SIADH, or polydipsia). Sometimes it may be a result of overhydration (drinking too much water).

Lack of sodium (salt) is very rarely the cause of hyponatremia, although it can promote hyponatremia indirectly. In particular, sodium loss can lead to a state of volume depletion (loss of blood volume in the body), with volume depletion serving as a signal for the release of ADH (anti-diuretic hormone).[citation needed] As a result of ADH-stimulated water retention (too much water in the body), blood sodium becomes diluted and hyponatremia results.

Exercise-associated hyponatremia (EAH), however, is common at marathons and other endurance events.[2] Researchers found, for instance, that 13% of the athletes who finished the 2002 Boston Marathon were in a clinically hyponatremic condition, i.e. their salt levels in their blood had fallen below an acceptable level. Tim Noakes' 2012 book "Waterlogged" addresses this phenomenon clearly.


Symptoms of hyponatremia include nausea and vomiting, headache, confusion, lethargy, fatigue, loss of appetite, restlessness and irritability, muscle weakness, spasms, or cramps, seizures, and decreased consciousness or coma. The presence and severity of symptoms are associated with the level of serum sodium (salt level in the blood), with the lowest levels of serum sodium associated with the more prominent and serious symptoms (the less the salt the more severe the symptoms). However, emerging data suggest that mild hyponatremia (serum sodium levels at 131 mEq/L or above) is associated with numerous complications and undiagnosed symptoms.[3]

Many medical illnesses, such as congestive heart failure, liver failure, kidney failure, or pneumonia may be associated with hyponatremia. These patients frequently show up in the medical exam room because of these other disease symptoms.

Neurological (brain) symptoms are often present with extremely low levels of sodium (salt). When sodium levels in the blood become too low, excess water enters cells and the cells swell. Swelling in the brain is dangerous because the brain is confined by the skull and is unable to expand.


potassium levels too high

Hyperkalemia

Hyperkalemia (hyperkalaemia in British English, hyper- high; kalium, potassium; -emia, "in the blood" refers to the condition in which the concentration of the electrolyte potassium (K+) in the blood is elevated. Extreme hyperkalemia is a medical emergency due to the risk of potentially fatal abnormal heart rhythms (arrhythmia).

Normal serum potassium levels are between 3.5 and 5.0 mEq/L;[1] at least 95% of the body's potassium is found inside cells, with the remainder in the blood. Membrane potential is maintained principally by the concentration gradient and membrane permeability to potassium with some contribution from the Na+/K+ pump.

Symptoms are fairly nonspecific and generally include malaise, palpitations and muscle weakness; mild hyperventilation may indicate a compensatory response to metabolic acidosis, which is one of the possible causes of hyperkalemia. Often, however, the problem is detected during screening blood tests for a medical disorder, or it only comes to medical attention after complications have developed, such as cardiac arrhythmia or sudden death.

During the medical-history intake, physicians focus on kidney disease and medication use (see below), as these are the main causes. The combination of abdominal pain, hypoglycemia, and hyperpigmentation, often in the context of other autoimmune disorders, may be signs of Addison's disease, which is a medical emergency.



potassium levels too low

Hypokalemia

Hypokalemia (American English) or hypokalaemia (British English), also hypopotassemia or hypopotassaemia (ICD-9), refers to the condition in which the concentration of potassium (K+) in the blood is low. The prefix hypo- means "under" (contrast with hyper-, meaning "over"; kal- refers to kalium, the Neo-Latin for potassium, and -emia means "condition of the blood."

Normal plasma potassium levels are between 3.5 to 5.0 mEq/L;[1] at least 95% of the body's potassium is found inside cells, with the remainder in the blood. Alternately, the NIH denotes 3.7-5.2 meq/L as a normal range. [2] This concentration gradient is maintained principally by the Na+/K+ pump.

Mild hypokalemia is often without symptoms, although it may cause a small elevation of blood pressure,[3] and can occasionally provoke cardiac arrhythmias. Moderate hypokalemia, with serum potassium concentrations of 2.5-3 mEq/L (Nl: 3.5-5.0 mEq/L), may cause muscular weakness, myalgia, and muscle cramps (owing to disturbed function of the skeletal muscles), and constipation (from disturbed function of smooth muscles). With more severe hypokalemia, flaccid paralysis and hyporeflexia may result. There are reports of rhabdomyolysis occurring with profound hypokalemia with serum potassium levels less than 2 mEq/L. Respiratory depression from severe impairment of skeletal muscle function is found in many patients.

Some electrocardiographic (ECG) findings associated with hypokalemia include flattened or inverted T waves, a U wave, ST depression and a wide PR interval. Due to prolonged repolarization of ventricular Purkinje fibers, a prominent U wave occurs, that is frequently superimposed upon the T wave and therefore produces the appearance of a prolonged QT interval.[4]


chloride levels too high

Hyperchloremia

Hyperchloremia is an electrolyte disturbance in which there is an abnormally elevated level of the chloride ion in the blood. The normal serum range for chloride is 97 to 107 mEq/L. Hyperchloremia is defined as a chloride concentration exceeding this level.

Often hyperchloremia does not produce any symptoms. However, hyperchloremia is sometimes associated with excess fluid loss such as vomiting and diarrhea. If the sufferer were to be a diabetic, hyperchloremia could lead to poor control of blood sugar concentration, which could cause it to become elevated. Hyperchloremia can be symptomatic with signs of Kussmaul's breathing, weakness, and intense thirst.


chloride levels too low

Hypochloremia

Hypochloremia (or Hypochloraemia) is an electrolyte disturbance in which there is an abnormally low level of the chloride ion in the blood. The normal serum range for chloride is 97 to 107 mEq/L.

It rarely occurs in the absence of other abnormalities.

It can be associated with hypoventilation.[1]

It can be associated with chronic respiratory acidosis.[2]

If it occurs together with metabolic alkalosis (decreased blood acidity) it is often due to vomiting.


phosphate levels too high

Hyperphosphatemia

Hyperphosphatemia is an electrolyte disturbance in which there is an abnormally elevated level of phosphate in the blood.[1] Often, calcium levels are lowered (hypocalcemia) due to precipitation of phosphate with the calcium in tissues. Average phosphorus levels should be between 0.81 mmol/L and 1.45 mmol/L.

Signs and symptoms include ectopic calcification, secondary hyperparathyroidism, and renal osteodystrophy.

phosphate levels too low

Hypophosphatemia

Hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in the blood. The condition has many causes, but is most commonly seen when malnourished patients (especially chronic alcoholics) are given large amounts of carbohydrates, which creates a high phosphorus demand by cells, removing phosphate from the blood (refeeding syndrome).

Because a decrease in phosphate in the blood is sometimes associated with an increase in phosphate in the urine, the terms hypophosphatemia and "phosphaturia" are occasionally used interchangeably; however, this is improper since there exist many causes of hypophosphatemia besides overexcretion and phosphaturia, and in fact the most common causes of hypophosphatemia are not associated with phosphaturia.

Refeeding syndrome This causes a demand for phosphate in cells due to the action of Hexokinase, an enzyme that attaches phosphate to glucose to begin metabolism of this. Also, production of ATP when cells are fed and recharge their energy supplies, requires phosphate.
Respiratory alkalosis Any alkalemic condition moves phosphate out of the blood into cells. This includes most common respiratory alkalemia (a higher than normal blood pH from low carbon dioxide levels in the blood), which in turn is caused by any hyperventilation (such as may result from sepsis, fever, pain, anxiety, drug withdrawal, and many other causes). This phenomenon is seen because in respiratory alkalosis carbon dioxide (CO2) decreases in the extracellular space, causing intracellular CO2 to freely diffuse out of the cell. This drop in intracellular CO2 causes a rise in cellular pH which has a stimulating effect on glycolysis. Since the process of glycolysis requires phosphate (the end product is adenosine triphosphate), the result is a massive uptake of phosphate into metabolically active tissue (such as muscle) from the serum. It is interesting to note, however, that this effect is not seen in metabolic alkalosis, for in such cases the cause of the alkalosis is increased bicarbonate rather than decreased CO2. Bicarbonate, unlike CO2, has poor diffusion across the cellular membrane and therefore there is little change in intracellular pH. [1]
Alcohol abuse Alcohol impairs phosphate absorption. Alcoholics are usually also malnourished with regard to minerals. In addition, alcohol treatment is associated with refeeding, and the stress of alcohol withdrawal may create respiratory alkalosis, which exacerbates hypophosphatemia (see above).
Malabsorption This includes GI damage, and also failure to absorb phosphate due to lack of vitamin D, or chronic use of phosphate binders such as sucralfate, aluminum-containing antacids, and (more rarely) calcium-containing antacids.

Primary hypophosphatemia is the most common cause of nonnutritional rickets. Laboratory findings include low-normal serum calcium, moderately low serum phosphate, elevated serum alkaline phosphatase, and low serum 1,25 dihydroxy-vitamin D levels, hyperphosphaturia, and no evidence of hyperparathyroidism.[2]


Hypophosphatasia

Alkaline phosphatase (ALP, ALKP) (EC 3.1.3.1) is a hydrolase enzyme responsible for removing phosphate groups from many types of molecules, including nucleotides, proteins, and alkaloids. The process of removing the phosphate group is called dephosphorylation. As the name suggests, alkaline phosphatases are most effective in an alkaline environment. It is sometimes used synonymously as basic phosphatase.[2]

The following conditions or diseases may lead to reduced levels of alkaline phosphatase:

Hypophosphatasia, an autosomal recessive disease
Postmenopausal women receiving estrogen therapy because of osteoporosis
Men with recent heart surgery, malnutrition, magnesium deficiency, hypothyroidism, or severe anemia
Children with achondroplasia and cretinism
Children after a severe episode of enteritis
Pernicious anemia
Aplastic anemia
Chronic myelogenous leukemia
Wilson's disease

In addition, the following drugs have been demonstrated to reduce alkaline phosphatase:

Oral contraceptives[16]


magnesium levels too high

Hypermagnesemia

Hypermagnesemia is an electrolyte disturbance in which there is an abnormally elevated level of magnesium in the blood.[1] Usually this results in excess of magnesium in the body.

Hypermagnesemia occurs rarely because the kidney is very effective in excreting excess magnesium. It usually develops only in people with kidney failure who are given magnesium salts or who take drugs that contain magnesium (e.g. some antacids and laxatives). It is usually concurrent with hypocalcemia and/or hyperkalemia.

Symptoms

Weakness, nausea and vomiting
Impaired breathing
Decreased respirations
Hypotension
Hypercalcemia
Arrhythmia and Asystole
Decreased or absent deep tendon reflexes
Bradycardia

Arrhythmia and asystole are possible cardiac complications of hypermagnesemia. Magnesium acts as physiologic calcium blocker, which results in electrical conduction abnormalities.

magnesium levels too low

Magnesium deficiency

Magnesium deficiency refers to an intake of dietary magnesium below minimal levels, which can result in numerous symptoms and diseases. These can generally be remedied by an increase of magnesium in diet or oral supplements. However intravenous supplementation is necessary for more severe cases

Symptoms of magnesium deficiency include: hyperexcitability, dizziness, muscle cramps, muscle weakness and fatigue.[1] Severe magnesium deficiency can cause hypocalcemia, low serum potassium levels (hypokalemia), retention of sodium, low circulating levels of parathyroid hormone (PTH), neurological and muscular symptoms (tremor, muscle spasms, tetany), loss of appetite, nausea, vomiting, personality changes [2] and death from heart failure.[3] Magnesium plays an important role in carbohydrate metabolism and its deficiency may worsen insulin resistance, a condition that often precedes diabetes, or may be a consequence of insulin resistance.[4] Deficiency can cause irregular heart beat.


Calcium levels too high

Hypercalcaemia

Hypercalcaemia (British English) or hypercalcemia (American English) is an elevated calcium level in the blood.[1] (Normal range: 9–10.5 mg/dL or 2.2–2.6 mmol/L). It can be an asymptomatic laboratory finding, but because an elevated calcium level is often indicative of other diseases, a workup should be undertaken if it persists. It can be due to excessive skeletal calcium release, increased intestinal calcium absorption, or decreased renal calcium excretion.

The neuromuscular symptoms of hypercalcemia are caused by a negative bathmotropic effect due to the increased interaction of calcium with sodium channels. Since calcium blocks sodium channels and inhibits depolarization of nerve and muscle fibers, increased calcium raises the threshold for depolarization.[2] There is a general mnemonic for remembering the effects of hypercalcaemia: "Stones, Bones, Groans, Thrones and Psychiatric Overtones"

Stones (renal or biliary)
Bones (bone pain)
Groans (abdominal pain, nausea and vomiting)
Thrones (sit on throne - polyuria)
Psychiatric overtones (Depression 30-40%, anxiety, cognitive dysfunction, insomnia, coma)

Other symptoms can include fatigue, anorexia, and pancreatitis.[citation needed]

Abnormal heart rhythms can result, and ECG findings of a short QT interval[3] and a widened T wave suggest hypercalcaemia. Significant hypercalcaemia can cause ECG changes mimicking an acute myocardial infarction.[4] Hypercalcaemia has also been known to cause an ECG finding mimicking hypothermia, known as an Osborn wave.[5]

Hypercalcaemia can increase gastrin production, leading to increased acidity so peptic ulcers may also occur.

Symptoms are more common at high calcium blood values (12.0 mg/dL or 3 mmol/l). Severe hypercalcaemia (above 15–16 mg/dL or 3.75–4 mmol/l) is considered a medical emergency: at these levels, coma and cardiac arrest can result. Medical staff will recognise that panic attacks and hyperventilation cause hypocalcaemia and irritable, hypersensitive nerves with muscle cramping and tingling sensations. Hypercalcaemia causes the opposite - the high levels of calcium ions decrease neuronal excitability, which leads to hypotonicity of smooth and striated muscle. This explains the fatigue, muscle weakness, low tone and sluggish reflexes in muscle groups. In the gut this causes constipation. The sluggish nerves also explain drowsiness, confusion, hallucinations, stupor and / or coma.

Milk alkali syndrome

In medicine, milk-alkali syndrome, also called Burnett's syndrome in honor of Charles Hoyt Burnett (1913–1967), the American physician who first described it,[1][2] is characterized by hypercalcemia caused by repeated ingestion of calcium and absorbable alkali (such as calcium carbonate, or milk and sodium bicarbonate). If untreated, milk-alkali syndrome may lead to metastatic calcification and renal failure.

It was most common in the early 20th century, but there has been a recent increase in the number of cases reported.[3][4]

The name "milk-alkali syndrome" derives from when patients would take in excessive amounts of milk and antiacids to control their dyspepsia, leading to overingestion of two key ingredients that lead to the disorder, excess calcium and excess base. Ingesting over two grams of elemental calcium per day produces this disorder in susceptible individuals. Gastrointestinal absorption of such a large amount of calcium leads to hypercalcemia. This inhibits parathyroid hormone secretion by the parathyroid gland and may also lead to diabetes insipidus. The body's attempt to rid itself of the excess base in the urine may cause bicarbonaturia and subsequent hypovolemia due to transport of sodium ions to accompany the bicarbonate.

Effects due to hypercalcemia may be remembered by the mnemonic bones, stones, groans and psychiatric overtones [ or moans ] . This means an increased risk of kidney stones, bone fractures, anorexia, vomiting, constipation, weakness, abdominal pain and a host of psychiatric effects, including depression, fatigue and altered mental status. Thus, a level of serum calcium must be obtained, but a full workup must include total/ionized calcium, albumin, phosphate, PTH, PTHrP, vitamin D and TSH. In addition, evaluation of hypercalcemia must include an ECG, which may show a short QT interval.

Calcinosis

Calcinosis is the formation of calcium deposits in any soft tissue.

Dystrophic calcification

The most common type of calcinosis is dystrophic calcification. This type of calcification can occur as a response to any soft tissue damage, including that involved in implantation of medical devices.

Metastatic calcification

Metastatic calcification involves a systemic calcium excess imbalance, which can be caused by hypercalcemia, renal failure, milk-alkali syndrome, lack or excess of other minerals, or other etiologies.

Tumoral calcinosis

The etiology of the rare condition of tumoral calcinosis is not entirely understood. It is generally characterized by large, globular calcifications near joints.


Calcium levels too low

Hypocalcaemia

It manifests as a symptom of a parathyroid hormone [PTH] deficiency/malfunction, a Vitamin D deficiency, or unusually high magnesium levels (hypermagnesaemia), or low magnesium levels (hypomagnesaemia).

More specifically, hypocalcaemia may be associated with low PTH levels as seen in hereditary hypoparathyroidism, acquired hypoparathyroidism (surgical removal MCC of hypoparathyroidism), and hypomagnesaemia. Hypocalcaemia may be associated with high PTH levels when the parathyroid hormone is ineffective; in chronic renal failure, the hydroxylation of vitamin D is ineffective, calcium levels in the blood fall, and high PTH levels are produced in response to the low calcium, but fail to return calcium levels to normal.

Eating disorders
Exposure to mercury, including infantile acrodynia
Excessive dietary magnesium, as with supplementation.
Prolonged use of medications/laxatives containing magnesium
Chelation Therapy for metal exposure, particularly EDTA
Absent parathyroid hormone (PTH)
Hereditary hypoparathyroidism
Acquired hypoparathyroidism
Hypomagnesaemia
Following parathyroidectomy, "Hungry Bone Syndrome"
Following thyroidectomy, the parathyroid glands are located very close to the thyroid and are easily injured or even accidentally removed during thyroidectomy
In DiGeorge Syndrome, a disease characterized by the failure of the third and fourth pharyngeal pouches to develop, the parathyroid glands do not form and there is thus a lack of PTH.
Ineffective PTH
Chronic renal failure
Absent active vitamin D
Decreased dietary intake
Decreased sun exposure
Defective Vitamin D metabolism
Anticonvulsant therapy
Vitamin-D dependent rickets, type I
Ineffective active vitamin D
Intestinal malabsorption
Vitamin-D dependent rickets, type II
Pseudohypoparathyroidism
Deficient PTH
Severe acute hyperphosphataemia
Tumour lysis syndrome
Acute renal failure
Rhabdomyolysis (initial stage)
Exposure to hydrofluoric acid
As a complication of pancreatitis
As a result of hyperventilation
Alkalosis, often caused by hyperventilation
Neonatal hypocalcaemia
Very low birth weight (less than 1500 grams)
Gestational age less than 32 weeks

Symptoms

The neuromuscular symptoms of hypocalcemia are caused by a positive bathmotropic effect due to the decreased interaction of calcium with sodium channels. Since calcium blocks sodium channels and inhibits depolarization of nerve and muscle fibers, diminished calcium lowers the threshold for depolarization.[1] The symptoms can be recalled by the mnemonic "CATS go numb"- Convulsions, Arrhythmias, Tetany and numbness/parasthesias in hands, feet, around mouth and lips.

Petechiae which appear as on-off spots, then later become confluent, and appear as purpura (larger bruised areas, usually in dependent regions of the body).
Oral, perioral and acral paresthesias, tingling or 'pins and needles' sensation in and around the mouth and lips, and in the extremities of the hands and feet. This is often the earliest symptom of hypocalcaemia.
Carpopedal and generalized tetany (unrelieved and strong contractions of the hands, and in the large muscles of the rest of the body) are seen.
Latent tetany
Trousseau sign of latent tetany (eliciting carpal spasm by inflating the blood pressure cuff and maintaining the cuff pressure above systolic)
Chvostek's sign (tapping of the inferior portion of the zygoma will produce facial spasms)[2]
Tendon reflexes are hyperactive
Life threatening complications
Laryngospasm
Cardiac arrhythmias
ECG changes include:
Intermittent QT prolongation, or intermittent prolongation of the QTc (corrected QT interval) on the EKG (electrocardiogram) is noted. The implications of intermittent QTc prolongation predisposes to life-threatening cardiac electrical instability (and this is therefore a more critical condition than constant QTc prolongation). This type of electrical instability puts the patient at high risk of torsades de pointes, a specific type of ventricular fibrillation which appears on an EKG (or ECG) as something which looks a bit like a sine wave with a regularly increasing and decreasing amplitude. (Torsades de pointes, as with any type of ventricular tachycardia, causes death, unless the patient can be electrically cardioverted, and returned to a normal cardiac rhythm.)


Osteomalacia

Osteomalacia is the softening of the bones caused by defective bone mineralization secondary to inadequate amounts of available phosphorus and calcium, or because of overactive resorption of calcium from the bone as a result of hyperparathyroidism (which causes hypercalcemia, in contrast to other aetiologies).[1] Osteomalacia in children is known as rickets, and because of this, use of the term osteomalacia is often restricted to the milder, adult form of the disease. It may show signs as diffuse body pains, muscle weakness, and fragility of the bones. The most common cause of the disease is a deficiency in vitamin D, which is normally obtained from the diet and/or from sunlight exposure.[2]

Osteomalacia in adults starts insidiously as aches and pains in the lumbar (lower back) region and thighs, spreading later to the arms and ribs. The pain is symmetrical, non-radiating and is accompanied by sensitivity in the involved bones. Proximal muscles are weak, and there is difficulty in climbing up stairs and getting up from a squatting position.

Due to demineralization bones become less rigid. Physical signs include deformities like triradiate pelvis[6] and lordosis. The patient has a typical "waddling" gait. However, those physical signs may derive from a previous osteomalacial state, since bones do not regain their original shape after they become deformed.

Pathologic fractures due to weight bearing may develop. Most of the time, the only alleged symptom is chronic fatigue, while bone aches are not spontaneous but only revealed by pressure or shocks.

Signs and Symptoms

Weak bones
Bone pain
Spinal bone pain
Pelvic bone pain
Leg bone pain
Muscle weakness
Hypocalcemia
Compressed vertebrae
Pelvic flattening
Easy fracturing
Bone softening
Bending of bones



Edited 1 time(s). Last edit at 04/23/2013 06:26PM by Panchito.