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Hyperparathyroidism
Rare Hyperparathyroidism

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Presentation

Presentation Almost all patients with CKD have SHPT to some degree, so the clinical presentation is often that of kidney disease. [patient.info]

Here, we present a case of NSHPT caused by a novel homozygous CaSR mutation. A Chinese female infant presented with poor feeding, constipation, severe hypotonia, and periodic bradycardia. [ncbi.nlm.nih.gov]

At present, more than 80% of patients with primary hyperparathyroidism present with vague constitutional and nonspecific symptoms suggestive of asymptomatic primary hyper parathyroidism. [doi.org]

Entire Body System

  • Fatigue

    We present a case of a 54-year-old woman with fatigue, myalgia, and poor concentration who was found to have hypercalcemia (corrected calcium, 11.2 mg/dL) and elevated parathyroid hormone level (112 pg/mL), laboratory values consistent with primary hyperparathyroidism [ncbi.nlm.nih.gov]

    Patient will present as → a 62-year-old female complaining of joint pain, polyuria, polydipsia, and generalized fatigue. The patient reports a history of recurrent kidney stones and depression. [smartypance.com]

    We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019 [patientslikeme.com]

    When she explained her symptoms, such as low bone density, fatigue and kidney stones, Russell ordered additional tests. “Her symptoms were not consistent with that I would have expected,” he recalls. [hopkinsmedicine.org]

    Symptoms may include: Kidney pain (due to the presence of kidney stones) Diminished bone density that causes bone pain Aches and pains Abdominal pain Nausea Vomiting Fatigue Excessive urination Confusion Muscle weakness The symptoms of hyperparathyroidism [chw.org]

  • Anorexia

    The symptoms of hyperparathyroidism are related to hypercalcaemia and include General weakness; lethargy; muscle weakness Polyuria and polydipsia Anorexia, vomiting, abdominal pain and constipation Depression, psychosis and memory loss Bone and joint [diapedia.org]

    Gastrointestinal System Anorexia, constipation and nausea can occur as a result of hyperparathyroidism. Peptic ulcer disease occurs in 15 percent of patients. [aafp.org]

    Anorexia; nausea and vomiting; constipation; abdominal pain; peptic ulcer disease (hypercalcaemia can increase gastric acid secretion); acute pancreatitis. Polyuria, polydipsia, dehydration. Renal colic, haematuria, hypertension. [patient.info]

    Nephrogenic diabetes insipidus Dehydration Nephrocalcinosis Skeleton “bones” Bone pain Arthritis Osteoporosis Osteitis fibrosa cystica in hyperparathyroidism (subperiosteal resorption, bone cysts) Gastrointestinal “abdominal moans” Nausea, vomiting Anorexia [web.archive.org]

  • Malaise

    Those with more significant hypercalcemia may experience cognitive impairment, constipation, bone and joint pain, excessive urination and thirst, and malaise. [nyulangone.org]

    There can be features of tenderness and malaise. The occurrence and severity of muscle symptoms do not correlate with severity of hypercalcemia. Arthralgias can occur at the medium and large joints. The features may mimic polymyalgia rheumatica. [rheumatologyadvisor.com]

Gastrointestinal

  • Constipation

    A Chinese female infant presented with poor feeding, constipation, severe hypotonia, and periodic bradycardia. Biochemistry tests revealed markedly elevated serum levels of Ca and parathyroid hormone (PTH). [ncbi.nlm.nih.gov]

    The range of signs and symptoms include: Muscle weakness Bone and joint aches and pains Kidney stones Excessive urination Feeling thirsty more than normal Constipation Fragile bones that may easily fracture (osteoporosis) Depression Pancreatitis Stomach [ucdenver.edu]

    These may include: Fatigue or lack of energy; sluggishness Bone pain, bone loss, or broken bones Constipation Hypertension (high blood pressure) Poor appetite, sometimes with nausea Kidney stones Depression Mood swings; changes in personality Memory problems [roswellpark.org]

    […] medicines Having had radiation treatment in the head or neck Symptoms Symptoms of the condition can include: Muscle weakness Depression Tiredness Confusion and memory loss Poor memory Nausea and vomiting Pain in the stomach area (abdomen) Hard stools (constipation [fairview.org]

    Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. [fpnotebook.com]

  • Nausea

    Nausea, vomiting and hypocalcaemia are commonly experienced by patients treated with cinacalcet. [doi.org]

    Symptoms may include: Kidney pain (due to the presence of kidney stones) Diminished bone density that causes bone pain Aches and pains Abdominal pain Nausea Vomiting Fatigue Excessive urination Confusion Muscle weakness The symptoms of hyperparathyroidism [chw.org]

    While each child may experience symptoms differently, some of the most common include: kidney pain (due to kidney stones ) bone pain aches and pains abdominal pain nausea vomiting chronic fatigue excessive urination confusion muscle weakness The symptoms [childrenshospital.org]

    A person who has mild hyperparathyroidism may have some of the following symptoms: Joint pain Muscle weakness Fatigue Depression Trouble concentrating Loss of appetite More severe cases of hyperparathyroidism may produce these symptoms: Nausea and vomiting [my.clevelandclinic.org]

    These may include: Fatigue or lack of energy; sluggishness Bone pain, bone loss, or broken bones Constipation Hypertension (high blood pressure) Poor appetite, sometimes with nausea Kidney stones Depression Mood swings; changes in personality Memory problems [roswellpark.org]

  • Abdominal Pain

    The consciousness disturbance caused by severe hypercalcemia probably masked the typical symptoms associated with pancreatitis because she did not report abdominal pain during the clinical course. [ncbi.nlm.nih.gov]

    Symptoms may include: Kidney pain (due to the presence of kidney stones) Diminished bone density that causes bone pain Aches and pains Abdominal pain Nausea Vomiting Fatigue Excessive urination Confusion Muscle weakness The symptoms of hyperparathyroidism [chw.org]

    While each child may experience symptoms differently, some of the most common include: kidney pain (due to kidney stones ) bone pain aches and pains abdominal pain nausea vomiting chronic fatigue excessive urination confusion muscle weakness The symptoms [childrenshospital.org]

    Hyperparathyroidism Thyroid Joint pain Abdominal pain Fatigue Kidney stones Muscle weakness Excessive urination Gene mutations Adenomas Hyperplasias Carcinomas Excess PTH in response to low blood calcium levels Overview Hyperparathyroidism is a condition [nm.org]

    […] depressed Feeling anxious Abdominal pain Nausea or vomiting Heartburn Constipation Frequent urination Nighttime urination Kidney stones Fractures Thinning hair Headaches Asymptomatic Hyperparthyroidism Surgical treatment of hyperparthyroidism is recommended [uwhealth.org]

  • Loss of Appetite

    A person who has mild hyperparathyroidism may have some of the following symptoms: Joint pain Muscle weakness Fatigue Depression Trouble concentrating Loss of appetite More severe cases of hyperparathyroidism may produce these symptoms: Nausea and vomiting [my.clevelandclinic.org]

    Although hyperparathyroidism may not cause any symptoms, some patients might experience: Feeling fatigued and weak Constipation Loss of appetite Joint pain Increased thirst Frequent urination Kidney pain, caused by kidney stones (calcium deposits in the [dartmouth-hitchcock.org]

    There are also other patients who have nonspecific symptoms, such as fatigue, weakness, depression, and loss of appetite. [britannica.com]

    […] of appetite The health care provider will do a physical exam and ask about symptoms. [nlm.nih.gov]

    Some of the general symptoms that may be associated with hypercalcemia include: Weak muscles and fatigue Depression Nausea Loss of appetite Constipation and abdominal pain Feeling thirsty and frequent urination (polyuria) Lack of concentration If the [news-medical.net]

  • Polydipsia

    Patient will present as → a 62-year-old female complaining of joint pain, polyuria, polydipsia, and generalized fatigue. The patient reports a history of recurrent kidney stones and depression. [smartypance.com]

    The symptoms of hyperparathyroidism are related to hypercalcaemia and include General weakness; lethargy; muscle weakness Polyuria and polydipsia Anorexia, vomiting, abdominal pain and constipation Depression, psychosis and memory loss Bone and joint [diapedia.org]

    Cardiovascular disease Left ventricular hypertrophy Arterial hypertension Shortened QT interval Kidney Nephrolithiasis, nephrocalcinosis Polyuria, polydipsia Musculoskeletal system Bone, muscle, and joint pain Pseudogout Osteitis fibrosa cystica ( cyst-like [amboss.com]

    Polyuria, polydipsia, dehydration. Renal colic, haematuria, hypertension. Long-standing hypercalcaemia causes corneal calcification, which is usually asymptomatic. [patient.info]

Cardiovascular

  • Hypertension

    Other factors known to increase AIx are female sex ( 16 ), smoking ( 17 ), and hypertension ( 18 ). [doi.org]

    Two unrelated adult patients were referred for nephrolithiasis, hypertension, hypercalcemia, hypercalciuria, normal 25-OHD levels, and inappropriate PTH levels (22 to 92pg/mL;N: 15-68) suggesting primary hyperparathyroidism, leading to surgery. [ncbi.nlm.nih.gov]

    These may include: Fatigue or lack of energy; sluggishness Bone pain, bone loss, or broken bones Constipation Hypertension (high blood pressure) Poor appetite, sometimes with nausea Kidney stones Depression Mood swings; changes in personality Memory problems [roswellpark.org]

    Hypertension, shortened QT interval on ECG and cardiac arrhythmias (rare). Severe cases may lead to coma and death. [patient.info]

Musculoskeletal

  • Osteoporosis

    To present a case of denosumab-induced normocalcemic hyperparathyroidism in a woman with postmenopausal osteoporosis without renal impairment or malabsorption syndrome. [ncbi.nlm.nih.gov]

    Standard treatments for osteoporosis ( bisphosphonates ) work well to improve bone mineral density in osteoporosis due to primary hyperparathyroidism. In people with normocalcaemic hyperparathyroidism, we don’t yet know what the best treatment is. [yourhormones.info]

    J Clin Endocrinol Metab 2000 / 85 (1) / 95-101., Riggs BL, et al, A unitary model for involutional osteoporosis: estrogen deficiency causes both type I and type II osteoporosis in postmenopausal women and contributes to bone loss in aging men. J. [4.waisays.com]

    Osteoporosis typically occurs when you have too much calcium in your blood and not enough calcium in your bones for a prolonged period. Osteoporosis puts you at a higher risk for bone fractures. [healthline.com]

    May need to treat osteoporosis with Bisphosphonates. [smartypance.com]

  • Osteopenia

    The resultant bone resorption produces cortical thinning (subperiosteal resorption) and osteopenia. [radiopaedia.org]

    Over time, patients with primary hyperparathyroidism are at risk for developing kidney stones, pancreatitis, gastroesophageal reflux disease, peptic ulcer disease, osteopenia, osteoporosis and bone fractures. [froedtert.com]

    This loss of calcium from the bones can lead to weak, brittle bones (osteopenia and osteoporosis) and bone fractures. When the blood with this high calcium goes through the kidneys, the calcium may be filtered into the urine. [cedars-sinai.edu]

    In the severe form, bones can give up so much of their calcium that the bones become brittle and break ( osteoporosis and osteopenia ). This problem is even more of a concern in older patients. [endocrineweb.com]

  • Arthralgia

    There is arthralgia, fractures, bowing of long bones and often gross deformities of the spine and chest. Bibliography G. Engel: Über einen Fall von cystoider Entartung des ganzen Skelettes. Giessen, F. C. Pietsch, 1864. F. [whonamedit.com]

    Arthralgias can occur at the medium and large joints. The features may mimic polymyalgia rheumatica. Weakness, easy fatigability, and atrophy can occur, particularly at the lower extremities. [rheumatologyadvisor.com]

Urogenital

  • Kidney Failure

    If hyperparathyroidism is caused by kidney failure, treatment may include: Extra calcium and vitamin D Avoiding phosphate in the diet The medicine cinacalcet (Sensipar) Dialysis or a kidney transplant Parathyroid surgery, if the parathyroid level becomes [nlm.nih.gov]

    Most patients with this form of hyperparathyroidism also have chronic kidney failure. Kidney failure causes an abnormality in calcium regulation due to the body's inability to regulate calcium and phosphorus excretion in the urine. [montefiore.org]

    […] stones and blockage, and kidney damage or failure peptic ulcers pancreatitis (inflammation of the pancreas) In very severe cases of hyperparathyroidism, high calcium levels can lead to rapid kidney failure, loss of consciousness, coma, or serious life-threatening [nhs.uk]

    […] with very long-standing kidney failure and dialysis Thyroid and Parathyroid Glands: Posterior (Back) View Copyright © Nucleus Medical Media, Inc. [uvahealth.com]

    Medications such as calcimimetics (like Sensipar) that cause the parathyroid glands to produce less PTH can be used for patients with secondary hyperparathyroidism due to kidney failure. [nm.org]

  • Polyuria

    Polyuria can occur with renal failure. Cardiac arrhythmias can occur and even coma. [smartypance.com]

    Some of the general symptoms that may be associated with hypercalcemia include: Weak muscles and fatigue Depression Nausea Loss of appetite Constipation and abdominal pain Feeling thirsty and frequent urination (polyuria) Lack of concentration If the [news-medical.net]

    The symptoms of hyperparathyroidism are related to hypercalcaemia and include General weakness; lethargy; muscle weakness Polyuria and polydipsia Anorexia, vomiting, abdominal pain and constipation Depression, psychosis and memory loss Bone and joint [diapedia.org]

    Cardiovascular disease Left ventricular hypertrophy Arterial hypertension Shortened QT interval Kidney Nephrolithiasis, nephrocalcinosis Polyuria, polydipsia Musculoskeletal system Bone, muscle, and joint pain Pseudogout Osteitis fibrosa cystica ( cyst-like [amboss.com]

    Polyuria, polydipsia, dehydration. Renal colic, haematuria, hypertension. Long-standing hypercalcaemia causes corneal calcification, which is usually asymptomatic. [patient.info]

Neurologic

  • Headache

    […] the calcium IS causing the recurrent headaches and removing the bad parathyroid gland will fix the headaches. [parathyroid.com]

    Bone pain Joint pain Difficulty concentrating Difficulty sleeping Memory problems Feeling depressed Feeling anxious Abdominal pain Nausea or vomiting Heartburn Constipation Frequent urination Nighttime urination Kidney stones Fractures Thinning hair Headaches [uwhealth.org]

    […] include: Kidney pain (due to the presence of kidney stones) Diminished bone density that causes bone pain Joint aches and pains Abdominal pain Nausea Vomiting Fatigue Excessive urination Confusion Muscle weakness Fractures Weight loss Diarrhea Depression Headache [chop.edu]

    Symptoms commonly seen with primary hyperparathyroidism include: Constipation Nausea Vomiting Abdominal pain Headache Loss of appetite Thirst Frequent and sometimes painful urination due to kidney stones Lethargy Fatigue Muscle weakness Joint pain Memory [uvahealth.com]

  • Memory Impairment

    Patients may have neurocognitive effects such as anxiety, depression or memory impairment or gastrointestinal disturbances such as abdominal pain or constipation. Neuromuscular weakness may ensue. [clinicaladvisor.com]

Workup

While inpatient, goal is to stabilize significant symptoms of hypercalcemia and order workup to establish diagnosis of PHPT, which can subsequently be completed in the outpatient setting. [clinicaladvisor.com]

Workup Laboratory studies Total serum calcium and albumin levels or ionized calcium levels should be measured. Hypercalcemia should be documented on more than one occasion before a diagnostic workup is undertaken. [emedicine.com]

Cord Sturgeon, Primary Hyperparathyroidism: Diagnosis and Workup, Surgical Endocrinopathies, 10.1007/978-3-319-13662-2_20, (123-129), (2015). Lori A. [doi.org]

X-Ray

  • Nephrolithiasis

    Complications of primary hyperparathyroidism include peptic ulcers, nephrolithiasis, pancreatitis and dehydration. Surgical management is usually indicated. [ncbi.nlm.nih.gov]

    Although reduced in prevalence, nephrolithiasis and nephrocalcinosis remain the most common clinical manifestations of the disorder. [doi.org]

    Evidence of nephrolithiasis or nephrocalcinosis via imaging Reduced bone mineral density ( T-score < -2.5 at lumbar spine, total hip, femoral neck, or distal third of the radius, or preexisting asymptomatic vertebral fracture ) The procedure depends [amboss.com]

    Those with clear symptoms or associated conditions such as osteoporosis or nephrolithiasis should have parathyroidectomy, which is definitive treatment. [clinicaladvisor.com]

Treatment

It turns out that lithium, a mainstay in the treatment of bipolar disorder, is associated with an increased incidence of hyperparathyroidism. [web.archive.org]

Treatment See also separate Hypercalcaemia article. [patient.info]

Calcimimetics versus placebo/no treatment [doi.org]

The main indication for treatment is persistent hypercalcemia and/or an increased PTH, and the primary treatment is surgery. [shifrinmd.com]

However, the biochemical definition of vitamin D deficiency and its treatment are subject to much debate. [ncbi.nlm.nih.gov]

Prognosis

Support Groups: Expectations (prognosis): The outlook varies depending on the specific type of hyperparathyroidism. [uclahealth.org]

However, if you have secondary or tertiary hyperparathyroidism, the prognosis tends to be worse. This is because it is usually caused by underlying stage 5 CKD. [patient.info]

Prognosis Mortality/Morbidity Most patients, who are predominantly middle aged or elderly, present with mild elevations of serum calcium and are not overtly symptomatic. [emedicine.com]

It is essential that physicians know how to evaluate and optimally manage patients with hypercalcemia, because treatment and prognosis vary according to the underlying disorder. [aafp.org]

Etiology

Each different form of hyperparathyroidism has its own etiologic factors that are grouped together by type [2]:

  • Primary hyperparathyroidism develops when one of the parathyroid glands malfunctions, often due to a parathyroid adenoma. Hyperplasia of the parathyroid glands, malignancy and ectopic parathyroid glands, are other etiologic factors behind this form of the disorder.
  • Vitamin D deficiency or chronic kidney disease are the contributing factors behind secondary hyperparathyroidism. 
  • The etiology of the third form of the disorder, tertiary hyperparathyroidism, is unknown and the condition is characterized by autonomous hypersecretion of parathyroid hormone probably due to persistent parathyroid stimulation.

Epidemiology

Working Group on Epidemiology and Prevention of Cardiovascular Diseases: Meeting of the Working Group of the European Society of Cardiology on Epidemiology and Prevention of Cardiovascular Diseases 9,Suppl.=1 von: Weltgesundheitsorganisation. [zdb-katalog.de]

References: [1] Epidemiology Primary hyperparathyroidism Lifetime incidence : 1/80 Sex : ♀ > ♂ (3:1) Age : most cases occur after age 50 Prevalence : ∼ 0.1–0.5% Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Clarke, Epidemiology of Primary Hyperparathyroidism, The Parathyroids, 10.1016/B978-0-12-397166-1.00019-9, (297-308), (2015). [doi.org]

Introduction Clinical definition disorder characterized by the over secretion of parathyroid hormone (PTH) by 1 or more of the parathyroid glands can be of primary, secondary, or tertiary causes Epidemiology demographics occurs in 0.1% of the population [medbullets.com]

Introduction I ncreased parathyroid hormone (PTH) production that may be of primary, secondary or tertiary causes Epidemiology incidence occurs in 0.1% of the population 90% result form a single adenoma remaining 10% from parathyroid hyperplasia demographics [orthobullets.com]

Pathophysiology

Content will review pathophysiology and consequences of SHPT, and address modifiable causes and management goals for improved patient outcomes. [icda.kontrabet13.com]

Epidemiology incidence occurs in 0.1% of the population 90% result form a single adenoma remaining 10% from parathyroid hyperplasia demographics more common in women hyperparathyroidism and maligncacy make up the majority of patients with hypercalcemia Pathophysiology [orthobullets.com]

Chronic kidney disease (most frequent cause) Malnutrition Vitamin D deficiency (e.g., reduced exposure to sunlight, nutritional deficiency, liver cirrhosis ) Cholestasis Tertiary hyperparathyroidism Caused by persistent sHPT References: [1] [2] [3] Pathophysiology [amboss.com]

Lithium-Associated Hypercalcemia: Pathophysiology, Prevalence, Management. World J Surg. 2018; 42(2):415-24 [ Links ] 24. Bilezikian JP, Brandi ML, Eastell R, Silverberg SJ, Udelsman R, Marcocci C, Potts JT Jr. [scielo.isciii.es]

Although the pathophysiology is not known, it is suggested that PTH or calcium deposition may inhibit uric acid excretion in the proximal renal tubule. [rheumatologyadvisor.com]

Prevention

Your doctor may also recommend lifestyle changes such as monitoring your calcium intake, drinking water to prevent kidney stones, exercising regularly and quitting smoking to help prevent bone loss. [nm.org]

When symptomatic hypocalcemia is expected, loading with 10 to 20 g elemental calcium in the days before surgery may prevent a precipitous postoperative decline in calcium. [merckmanuals.com]

Working Group on Epidemiology and Prevention of Cardiovascular Diseases: Meeting of the Working Group of the European Society of Cardiology on Epidemiology and Prevention of Cardiovascular Diseases 9,Suppl.=1 von: Weltgesundheitsorganisation. [zdb-katalog.de]

Prevent Hyperparathyroidism Adequate calcium intake may play a role in preventing hyperparathyroidism in women. Try to get recommended levels of calcium through dietary choices and supplements. MAKE AN APPOINTMENT Call 434.243.3675. [uvahealth.com]

Summary

When the parathyroid glands become overactive and excessively produce parathyroid hormone PTH, which is responsible for the regulation of phosphate and calcium levels in the body, it leads to hyperparathyroidism [1]. Hyperparathyroidism is divided into three forms, primary hyperparathyroidism, secondary hyperparathyroidism, and tertiary hyperparathyroidism.

It should be noted that there are other reasons for the overproduction of PTH. A person could be suffering from a glandular disorder like hyperthyroidism which leads to hypercalcemia, or there could be low calcium levels in the body due to a vitamin D deficiency or a chronic kidney disease.

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