Hypoparathyroidism
(Redirected from Hypoparathyroidism familial isolated)
Endocrine disorder characterized by low levels of parathyroid hormone
Hypoparathyroidism | |
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Synonyms | |
Pronounce | |
Specialty | N/A |
Symptoms | Hypocalcemia, muscle cramps, tingling sensations, tetany |
Complications | Seizures, cardiac arrhythmias, cataracts, renal complications |
Onset | Often after neck surgery; congenital cases early in life |
Duration | Lifelong, chronic |
Types | Congenital, acquired, autoimmune |
Causes | Surgical damage or removal of parathyroid glands, autoimmune disease, genetic disorders |
Risks | Neck surgery, autoimmune conditions, genetic predisposition |
Diagnosis | Blood tests (calcium, phosphate, parathyroid hormone levels) |
Differential diagnosis | Pseudohypoparathyroidism, vitamin D deficiency, renal failure |
Prevention | Careful surgical techniques during thyroid and neck surgery |
Treatment | Calcium and vitamin D supplementation; hormone replacement |
Medication | Recombinant human parathyroid hormone, palopegteriparatide, oral calcium and calcitriol |
Prognosis | Good with appropriate management, though chronic complications can occur |
Frequency | Rare |
Deaths | Rare, usually associated with severe complications |
Hypoparathyroidism is an endocrine disorder characterized by insufficient production of parathyroid hormone (PTH) by the parathyroid glands. This condition leads to low levels of calcium in the blood, a condition known as hypocalcemia, and can result in a variety of symptoms and complications.
Causes
Hypoparathyroidism can be caused by several factors, including:
- Surgical removal or damage: The most common cause is accidental damage or removal of the parathyroid glands during thyroidectomy or other neck surgeries.
- Autoimmune disease: The body's immune system may mistakenly attack the parathyroid glands, leading to decreased hormone production.
- Genetic disorders: Certain genetic conditions, such as DiGeorge syndrome and familial isolated hypoparathyroidism, can result in hypoparathyroidism.
- Radiation therapy: Exposure to radiation, particularly in the treatment of cancers in the neck region, can damage the parathyroid glands.
- Idiopathic: In some cases, the cause of hypoparathyroidism is unknown.
Symptoms
The symptoms of hypoparathyroidism are primarily due to low calcium levels and may include:
- Muscle cramps and spasms: Known as tetany, these are often painful and can affect any muscle group.
- Paresthesia: Tingling or "pins and needles" sensations, particularly in the lips, fingers, and toes.
- Fatigue and weakness: General feelings of tiredness and lack of energy.
- Anxiety and depression: Mood changes can occur due to the effects of low calcium on the nervous system.
- Seizures: In severe cases, low calcium levels can lead to seizures.
- Cataracts: Long-term hypocalcemia can lead to the development of cataracts.
Diagnosis
Diagnosis of hypoparathyroidism involves:
- Blood tests: To measure levels of calcium, phosphorus, magnesium, and parathyroid hormone.
- Urine tests: To assess calcium excretion.
- Genetic testing: In cases where a hereditary cause is suspected.
Treatment
The primary goal of treatment is to restore and maintain normal calcium levels. Treatment options include:
- Calcium supplements: Oral calcium carbonate or calcium citrate is often prescribed.
- Vitamin D analogs: Such as calcitriol, to help increase calcium absorption from the gut.
- Thiazide diuretics: These may be used to reduce urinary calcium excretion.
- Recombinant human parathyroid hormone: In some cases, synthetic PTH may be administered.
Prognosis
With appropriate treatment, individuals with hypoparathyroidism can lead normal lives. However, lifelong monitoring and medication may be necessary to maintain calcium levels and prevent complications.
Related pages
Parathyroid disease | ||||||
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