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Familal Benign Hypercalcemia

FHH Type 1


Presentation

  • Relative can be either present with above mentioned symptoms or with an incidental finding of hypercalcaemia on blood investigations.[explainmedicine.com]
  • The present case is remarkable since it is an example of the occurrence of pancreatitis in a previously known patient with hypercalcaemia, and it underlines the severity of the pancreatitis when it occurs in this syndrome.[rug.nl]
  • Presentation Almost all patients with CKD have SHPT to some degree, so the clinical presentation is often that of kidney disease.[patient.info]
  • Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.[uniprot.org]
  • Clinical Endocrinology 2: Calcium Disorders presents an extensive examination of the treatment of postmenopausal and senile osteoporosis. It discusses the acquired disorders of vitamin D metabolism. It addresses the prevention of osteoporosis.[books.google.com]
Weakness
  • Muscle weakness/ soreness Calcium is an important electrolyte in muscle contraction by reaction with regulatory proteins, actin and myosin[3]. With hypercalcaemia there will be continuous muscle contraction causing muscle soreness and weakness.[explainmedicine.com]
  • In those with greater levels or rapid onset, symptoms may include abdominal pain, bone pain, confusion, depression, weakness, kidney stones, or an abnormal heart rhythm including cardiac arrest.[play.google.com]
  • HHC is usually asymptomatic but in some cases: fatigue, weakness, excessive thirst and concentration problems have been reported. Some adults present also pancreatitis, chondrocalcinosis and premature vascular calcification.[iofbonehealth.org]
  • Weakness, fatigue, issues with concentration, and excessive thirst ( polydipsia ) have been reported by some people with FHH.[rarediseases.info.nih.gov]
  • […] respiratory Phenotypes Autosomal dominant inheritance ; Bone pain ; Chondrocalcinosis ; Depressivity ; Fatigue ; Headache ; Hypercalcemia ; Hypermagnesemia ; Hypocalciuria ; Hypophosphatemia ; Multiple lipomas ; Multiple small medullary renal cysts ; Muscle weakness[mousephenotype.org]
Anorexia
  • 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[aafp.org]
  • Some patients with presumed asymptomatic hyperparathyroidism, when carefully questioned, have nonspecific symptoms, such as fatigue, weakness, anorexia, mild depression, and mild cognitive or neuromuscular dysfunction, and others simply miss work often[es.slideshare.net]
  • 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]
Prolonged Immobilization
  • Vitamin A intoxication, isotretinoin (a vitamin A derivative). 5 Prolonged immobilization (probably uncommon), in patient with increased bone turnover (eg, Paget disease of bone, malignancy, children).[labcorp.com]
Weight Loss
  • loss Constipation Abdominal pain Pancreatitis Peptic ulcer disease Neuromuscular “psychic groans” Impaired concentration and memory Confusion, stupor, coma Lethargy and fatigue Muscle weakness Corneal calcification (band keratopathy) Cardiovascular Hypertension[aafp.org]
Polydipsia
  • Weakness, fatigue, issues with concentration, and excessive thirst ( polydipsia ) have been reported by some people with FHH.[rarediseases.info.nih.gov]
  • The typical clinical symptoms are fatigue, weakness and polydipsia, but rare cases may be associated with chondrocalcinosis, pancreatitis and gallstones. One sensitive and specific means of diagnosis is an oral calcium and peptone load test.[acrabstracts.org]
  • Affected individuals may also have fatigue, weakness, mental disturbance, and polydipsia/polyuria.[genedx.com]
  • Work-up for coma, pancreatitis and other gastrointestinal problems, nephrolithiasis, polydipsia, polyuria, azotemia, multiple endocrine adenomatosis.[labcorp.com]
  • Polyuria, polydipsia, dehydration. Renal colic, haematuria, hypertension. Long-standing hypercalcaemia causes corneal calcification, which is usually asymptomatic.[patient.info]
Vomiting
  • When symptomatic the most common symptoms include stones (kidney or biliary), bone pain, abdominal pain, nausea, vomiting, increased urination, depression (30-40%), anxiety, cognitive dysfunction, insomnia, coma and cardiac arrest in severe cases.[thyroiddoctortampa.com]
  • Nephrolithiasis 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[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]
  • Common adverse effects of cinacalcet include nausea, vomiting and headache.[hormones.gr]
Constipation
  • Neuromuscular effects include impaired concentration, confusion, corneal calcification, fatigue, and muscle weakness. 8 Nausea, abdominal pain, anorexia, constipation, and, rarely, peptic ulcer disease or pancreatitis are among the gastrointestinal manifestations[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]
Muscle Weakness
  • Muscle weakness/ soreness Calcium is an important electrolyte in muscle contraction by reaction with regulatory proteins, actin and myosin[3]. With hypercalcaemia there will be continuous muscle contraction causing muscle soreness and weakness.[explainmedicine.com]
  • weakness ; Nephrolithiasis ; Osteomalacia ; Pancreatitis ; Parathormone-independent increased renal tubular calcium reabsorption ; Peptic ulcer ; Primary hyperparathyroidism ; Renal insufficiency Associated Genes AP2S1 (Withdrawn symbols: CLAPS2, FBH3[mousephenotype.org]
  • Neuromuscular effects include impaired concentration, confusion, corneal calcification, fatigue, and muscle weakness. 8 Nausea, abdominal pain, anorexia, constipation, and, rarely, peptic ulcer disease or pancreatitis are among the gastrointestinal manifestations[aafp.org]
  • Hypercalcaemia: Muscle weakness, proximal myopathy, fatigue. Anorexia; nausea and vomiting; constipation; abdominal pain; peptic ulcer disease (hypercalcaemia can increase gastric acid secretion); acute pancreatitis.[patient.info]
  • She had experienced no clinical symptoms attributable to hypercalcemia, such as frequent urination, muscle weakness, or delirium, although her hypercalcemia had been pointed out when she was 24 years old.[edmcasereports.com]
Osteopenia
  • The incidence of complications associated with primary hyperparathyroidism, like osteopenia and nephrolithiasis, is not increased in persons with benign familial hypocalciuric hypercalcemia, and the rates are similar to those in the general population[uthealth.influuent.utsystem.edu]
  • Clinical features are due to: Excessive calcium resorption from bone: Osteopenia and osteoporosis, presenting as bone pain and pathological fractures. Osteitis fibrosa cystica can occur in severe cases.[patient.info]
Suggestibility
  • Calcimimetics (cinacalcet and NPS R-568) have been used in symptomatic cases of FHH and have been suggested as an option in some cases of NSHPT. Similarly, treatment with pamidronate has been used SNHPT in preparation for parathyroidectomy.[endocrine-abstracts.org]
  • Central nervous system involved features suggestive of hypercalcaemia like Lethargy, fatigue, uneasiness, anxiety, personality changes and poor memory.[explainmedicine.com]
  • Am J Hum Genet 64:518-25 Health 3rd, H; Odelberg, S; Jackson, C E et al. (1996) Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.[grantome.com]
  • Among several hypothesized relationships between the two syndromes is the suggestion… (More) DOI: 10.1007/BF02254188 Topics Calcium Hypercalcemia Hyperparathyroidism stable isotope Calculated (procedure) Sodium, Dietary urine calcium Hypocalciuric hypercalcemia[pdfs.semanticscholar.org]
  • Moreover, our results suggest that the CaR has at least two functionally separable domains.[scienceopen.com]
Impulsivity
  • In central nervous system calcium plays a major role in electrical impulse transmission. calcium irons in the synapses helps to transmit signals across the cleft from one neuronal cell to another.[explainmedicine.com]
Polyuria
  • Affected individuals may also have fatigue, weakness, mental disturbance, and polydipsia/polyuria.[genedx.com]
  • Work-up for coma, pancreatitis and other gastrointestinal problems, nephrolithiasis, polydipsia, polyuria, azotemia, multiple endocrine adenomatosis.[labcorp.com]
  • Polyuria, polydipsia, dehydration. Renal colic, haematuria, hypertension. Long-standing hypercalcaemia causes corneal calcification, which is usually asymptomatic.[patient.info]
  • Interestingly, some patients reported polydipsia and polyuria when they were normocalcemic, and this resolved when they became hypocalcemic.[ijem.in]
  • […] mutation in the calcium-sensing receptor in the parathyroid glands and the kidneys A family history of hypercalcemia, especially in young children, and the absence of symptoms and signs of hypercalcemia (such as anorexia, neuromuscular symptoms, and polyuria[es.slideshare.net]
Renal Stone
  • Recurrent renal stones have indeed been described in familial hypocalciuric hypercalcaemia (1,2& 3) and the elevated PTH levels are in-keeping with this diagnosis.[bmj.com]
  • Some patients experience pancreatitis, gall stones, renal stones, or chondrocalcinosis. Affected individuals may also have fatigue, weakness, mental disturbance, and polydipsia/polyuria.[genedx.com]
  • View/Print Table TABLE 2 Clinical Manifestations of Hypercalcemia Renalstones” Nephrolithiasis Nephrogenic diabetes insipidus Dehydration Nephrocalcinosis Skeleton “bones” Bone pain Arthritis Osteoporosis Osteitis fibrosa cystica in hyperparathyroidism[aafp.org]
Renal Injury
  • Hypercalcemia also can occur in the recovery phase of rhabdomyolysis-induced renal injury, when calcium deposited in soft tissue is mobilized.[aafp.org]
Lethargy
  • Central nervous system involved features suggestive of hypercalcaemia like Lethargy, fatigue, uneasiness, anxiety, personality changes and poor memory.[explainmedicine.com]
  • […] resorption, bone cysts) Gastrointestinal “abdominal moans” Nausea, vomiting Anorexia, weight loss Constipation Abdominal pain Pancreatitis Peptic ulcer disease Neuromuscular “psychic groans” Impaired concentration and memory Confusion, stupor, coma Lethargy[aafp.org]
Excitement
  • […] inactivation in a gene which encoding the calcium sensing receptor causing hypercalcaemia patients will present with Central nervous system involved features like Lethargy, fatigue, uneasiness, anxiety, personality changes and poor memory due to hyper excitability[explainmedicine.com]
Personality Change
  • Central nervous system involved features suggestive of hypercalcaemia like Lethargy, fatigue, uneasiness, anxiety, personality changes and poor memory.[explainmedicine.com]

Workup

  • It is an asymptomatic laboratory finding most of the time, but because an elevated calcium level is often indicative of other diseases, a workup should be undertaken if it persists. Most cases are picked up on routine labs and are asymptomatic.[thyroiddoctortampa.com]
Nephrolithiasis
  • The incidence of complications associated with primary hyperparathyroidism, like osteopenia and nephrolithiasis, is not increased in persons with benign familial hypocalciuric hypercalcemia, and the rates are similar to those in the general population[uthealth.influuent.utsystem.edu]
  • Phenotypes Autosomal dominant inheritance ; Bone pain ; Chondrocalcinosis ; Depressivity ; Fatigue ; Headache ; Hypercalcemia ; Hypermagnesemia ; Hypocalciuria ; Hypophosphatemia ; Multiple lipomas ; Multiple small medullary renal cysts ; Muscle weakness ; Nephrolithiasis[mousephenotype.org]
  • Work-up for coma, pancreatitis and other gastrointestinal problems, nephrolithiasis, polydipsia, polyuria, azotemia, multiple endocrine adenomatosis.[labcorp.com]
  • The most important renal effects are polydipsia and polyuria resulting from nephrogenic diabetes insipidus, and nephrolithiasis resulting from hypercalciuria. Other renal effects include dehydration and nephrocalcinosis.[aafp.org]
  • Encourage adequate hydration (at least six to eight glasses of water per day) to minimize the risk of nephrolithiasis.[es.slideshare.net]
Calcium Increased
  • Normally, if the blood levels of calcium increase, the urinary output of calcium is also increased but, in the case of familial hypocalciuric hypercalcemia, this does not hold true and the urinary levels of calcium tends to be low, which is called hypocalciuria[wisegeek.com]
Calcium Decreased
  • Barbiturates in elderly may cause calcium decrease. Other drugs, including calcitonin, corticosteroids, gastrin, glucagon, glucose, insulin, magnesium salts, methicillin and tetracycline in pregnancy.[labcorp.com]
  • For every 1-g/dL drop in serum albumin below 4 g/dL, measured serum calcium decreases by 0.8 mg/dL.[emedicine.medscape.com]
Calcium Increased
  • Normally, if the blood levels of calcium increase, the urinary output of calcium is also increased but, in the case of familial hypocalciuric hypercalcemia, this does not hold true and the urinary levels of calcium tends to be low, which is called hypocalciuria[wisegeek.com]

Treatment

  • Similarly, treatment with pamidronate has been used SNHPT in preparation for parathyroidectomy. Glucocorticoids may control the autoimmune form of FHH.[endocrine-abstracts.org]
  • Purpose of review: In this review, we define hypercalcemia levels, common causes for hypercalcemia in children, and treatment in order to aid the practicing pediatrician.[jhu.pure.elsevier.com]
  • It is, therefore, highly unlikely to occur after treatment of patients with MAH.[hormones.gr]
  • Another section focuses on the treatment and prevention of rickets and osteomalacia. The analysis of renal osteodystrophy, hypercalcemia, and familial hypocalciuric hypercalcemia are briefly covered.[books.google.com]
  • Treatment See also separate Hypercalcaemia article.[patient.info]

Prognosis

  • Prognosis Familial hypocalciuric hypercalcemia is a benign disease. Complications Hypercalcemia can cause pancreatitis and chondrocalcinosis. Lipomas are frequent too. Bibliography Aida, K., Koishi, S., Inoue, M., Nakazato, M., Tawata, M., Onaya, T.[renaltube.com]
  • Prognosis FHH does not lower life expectancy and has a benign, stable course. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • 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

  • Etiology There are 3 genetic types of FHH based on chromosome location. FHH type 1 accounts for 65% of cases and is due to inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR).[orpha.net]
  • The key is to address the underlying etiology. For the most severe and acute cases the following is the treatment of choice. Most cases of hypercalcemia discovered in the outpatient setting will not require such aggressive intervention.[thyroiddoctortampa.com]
  • Typically, diagnosis is made in the pursuit of uncovering the etiology of hypercalcemia. Calcium levels are often in the high normal range or slightly elevated.[en.wikipedia.org]

Epidemiology

  • Summary Epidemiology Prevalence is unknown.[orpha.net]
  • Primary hyperparathyroidism Epidemiology Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder. [ 1 ] it is most common in postmenopausal women. [ 1 ] Causes Excess PTH is produced by one or more of the parathyroid glands, due[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • To review the pathophysiology, clinical features, diagnosis, and management options for benign familial hypocalciuric hypercalcemia.[uthealth.influuent.utsystem.edu]
  • More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine.[books.google.com]
  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]
  • Colorado State University Hypertextbook, Pathophysiology of the Endocrine System [On-line information]. Available online at . Parathyroid Hormone, Intact Molecule. ARUP's Guide to Clinical Laboratory Testing (CLT) [On-line test information].[labtestsonline.it]
  • Knowledge of the pathophysiology of hypercalcaemia and of the properties of these interventions is essential for the successful management of affected individuals.[hormones.gr]

Prevention

  • It addresses the prevention of osteoporosis.[books.google.com]
  • Use of bisphosphonates in such circumstances, then, becomes both therapeutic and preventative patients in renal failure and hypercalcemia should have a risk-benefit analysis before being given biphosphonates, since they are relatively contraindicated[thyroiddoctortampa.com]
  • (Vitamin D deficiency stimulates PTH secretion and bone resorption, and therefore is deleterious in patients with primary HPPT) (4) Preventive measures — A number of measures should be recommended to patients who do not undergo surgery, including the[es.slideshare.net]
  • Excessive sunlight exposure (UV light) must be avoided in order to prevent endogenous vitamin D production.[hormones.gr]
  • […] cinacalcet for those people with end-stage kidney disease whose SHPT is refractory to other treatment and in whom surgery is not suitable as a treatment. [ 8 ] Trials indicate that early intervention in stages 3 and 4 of CKD can correct PTH levels and could prevent[patient.info]

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