Complete Information on Albright's hereditary osteodystrophy with Treatment and Prevention

Patients with Albright hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, and rounded facies.

Albright hereditary osteodystrophy is a inherent disorder that resembles hypoparathyroidism, but is caused by a decrease of reaction to parathyroid hormone rather than having too little of the hormone itself. Due to genetic imprinting, the disease occurs only when a mother with mild clinical symptoms or a de novo mutation of the maternal allele passes it to her offspring. There are two types of Albright's hereditary osteodystrophy. These are albright's hereditary osteodystrophy with Pseudo hypoparathyroidism (PHP) and albright's hereditary osteodystrophy with Pseudo pseudo hypoparathyroidism (PPHP). Both types have the same cause and both types can occur within the same family.

In PHP, parathyroid hormone is generate in normal amounts by the parathyroid gland and emancipate into the blood. However, the body is 'resistant' to its effects and this causes various symptoms. The disorder is characterized by a lack of renal responsiveness to parathyroid hormone, resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone. In fact, blood levels of parathyroid hormone are elevated in Pseudohypoparathyroidism due to the continued hypocalcemia. Signs of hypocalcemia include tingling in the fingers, muscle cramps, possible seizures and cataracts. Hypocalcemia typically begins in childhood. Another hormone which the body is unable to respond to in PHP is the thyroid stimulating hormone which makes the thyroid gland produce thyroid hormone.

Hereditary counselling may be helpful for individuals and families affected by this condition. Symptoms are related to low levels of calcium and include sensations of numbness and seizures. The range and severity of symptoms varies from one person to another. The height and weight of individuals with Albright's hereditary osteodystrophy can be normal, particularly in childhood. Complications of hypocalcemia associated with pseudohypoparathyroidism may include seizures and other endocrine problems, leading to lowered sexual drive and lowered sexual development, lowered energy levels, and increased weight. Treatment consists of calcium and vitamin D supplements, to maintain high calcium levels without the help of Pseudo hypoparathyroidism. If serum phosphate stays high, a low-phosphorus diet or phosphate binders (such as calcium carbonate, calcium acetate, or sevelamer HCl) may be necessary.

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