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Paget's Disease

Paget’s disease is named after James Paget, the doctor who first described the disease. It affects bones, mostly of the spine, thigh, shin or pelvis. This disease affects the process of breaking down and rebuilding of bones. Since new bones are built at a faster rate, there is likelihood of fractures and deformities. Consequently there is destruction of bone since the new bone that is formed is weak and porous. As a result, these bones are likely to bend easily and break. Paget's disease also leads to additional blood vessels (hypervascularity in the affected area. This condition affecting the bones is more likely to affect men and people over 40. Paget's disease is also known as Osteitis Deformans. Over time, Paget's disease can lead to Osteoarthritis, Kidney Stones and heart disease. In rare cases, severe Paget's disease has been associated with heart failure or cancer.

The symptoms of Paget's Disease include pain and deep ache in the affected bones. The patient is likely to experience bone deformity or fracture in the affected area. There may be damage to the cartilage lining of the joints near the affected ones leading to osteoarthritis. Persons suffering from Paget's disease may suffer pain from nerve compression due to the pressure from bones. A person suffering from Paget's disease is likely to suffer elevated alkaline phosphate levels in the blood. There might be bone abnormalities such as enlargement, reabsorption and bowing.

Bone scans aid diagnosis of Paget's disease. Bone Scintiscan, a kind of imaging test where a Radio isotope like Iodine-131 meta-iodobenzylguanidine (MIBG) is used as a tracer, can help detect the bones that have been affected. X-rays and blood test to check blood serum alkaline phosphatase can help in the diagnosis of Paget's disease. Treatment for Paget's disease is based on the extent of the disease, location of the affected bones and the medical history of the patient. Physical therapy and medication to inhibit abnormal bone reabsorption are prescribed. Bisphosphonates can reduce the activity of Paget's disease and are often prescribed for a period of 2 - 6 months. NSAIDs are given to alleviate pain and reduce inflammation. Surgery to realign affected bones or joint replacement are resorted to in cases where the joints are severely damaged or deformed.

Osteogenesis Imperfecta

Osteogenesis imperfecta or OI, also known as brittle bone disease, is a genetic disorder that is characterized by weak and fragile bones that break easily. Osteogenesis imperfecta is caused by a genetic defect that disables the body to make strong bones. A person may experience occasional fractures or may have multiple fractures throughout life depending upon the severity of Osteogenesis imperfecta present. Apart from fragile bones, people with OI suffer from teeth problems - Dentinogenesis Imperfecta, hearing loss, muscle weakness, loose joints (joint laxity) and skeletal malformations.

Causes of OI

Osteogenesis imperfecta is either inherited from a parent who has the defective gene or could be a result of new mutations. Due to the defective gene, an important protein substance called type I collagen is not produced in the body. This protein plays an important role in forming connective tissues in bones and also helps in forming ligaments, teeth and the white outer tissue of the eyeballs (sclera). Due to poor production of the protein, bones become brittle and fragile and tend to break easily. Most of the mutations in OI exist in the two type I collagen genes, COL1A1 and COL1A2 and account for almost all the forms of OI.

Classification of Osteogenesis imperfecta

Depending upon the severity of the Osteogenesis imperfecta, the condition is divided into type 1, type 2, type 3, type 4. These types are classified mostly by fracture frequency and by characteristic features. Recently, research has identified three more additional variations to Osteogenesis imperfecta known as type 5, 6 and 7.

Type 1

Type 1 Osteogenesis imperfecta is the mildest and the most common form of OI. More than 50% patients suffer from Type 1 Osteogenesis imperfecta. In this type, though body produces normal type I collagen but only half the normal quantity. People with Type 1 OI may experience fewer fractures, and most often the condition may go unnoticed for several years after their birth.

Type 2

Type 2 Is the most severe form of Osteogenesis imperfecta often resulting in bone deformities in the child. Type 2 OI normally turns out to be fatal with the production of very little or poor quality collagen being produced in the body. Infants with type 2 OI are born with fragile rib cage and underdeveloped lungs. They usually die either in the womb or soon after birth.

Type 3

Osteogenesis imperfecta type III is severely progressive type associated with symptoms like short stature, a triangular face, severe scoliosis, grayish sclera, and Dentinogenesis imperfecta (impaired and irregular teeth with yellow-blue tinge). Infants with type 3 OI have fractures at the time of birth itself, and few infants reveal a fractured and eventually healed bones in the womb itself.

Type 4

Type 4 Osteogenesis imperfecta can range from very mild to severe form often resulting in growth retardation in children. A child with type 4 OI is short with bow shaped legs. Symptoms like tinted sclerae (white of the eye) and dental deformities may also be present at the time of the birth. Child normally suffers from Long bone fractures, vertebral compression, scoliosis, and ligament laxity with type 4 OI.

Type 4 also has two sub types called type 5 and type 6 OI. Though clinically they resemble type 4, types 5 and 6 have unique patterns to the bones. Type 5 exhibits features like ossification of interosseous membrane of the forearm with radial head dislocation, large callus formation and an abnormal histopathological pattern. Type 6 will have elevated alkaline phosphatase and blue-white sclerae.


Most severe forms are diagnosed before birth itself. Ultrasound scanning during second trimester may reveal deformity of limbs, abnormally short fetus, irregular skull shape, lack of mineralizations and narrow chest cavity. Few cases are diagnosed soon after the birth and mild type of OI is found out much later in life when such individuals suffer from repeated fractures. However, the following diagnostic methods are used to assess the condition.

  • Clinical examination, wherein history of frequent fractures with minimal trauma is noted

  • X-Ray

  • Genetic testing of a blood sample (DNA )

  • Skin biopsy to assess collagen production.


Since Osteogenesis imperfecta is a genetic condition, it does not have a cure. Patient will be treated symptomatically and will be aided with external tools to provide maximum possible mobility. Efforts are also taken to improve muscle strength and boost the bone mass in the patient through physical therapy. Professionally designed exercise programmes are highly beneficial and play an important role in treating the patients suffering from OI. Patient may also be prescribed required nutritional supplements like calcium, and vitamin D along with physical therapy. Few suitable candidates are also treated with surgical procedure called intramedullary rod surgery wherein metal rods are inserted through the length of the long bones to support and strengthen them.

Of late, Bisphosphonates drugs are being used in treating Osteogenesis imperfecta. Bisphosphonates are used to decrease the amount of bone resorption. It also helps in preventing fractures and improve person's functional mobility. There is also research being done to understand the role of gene therapy in treating Osteogenesis imperfecta.


Prognosis of Osteogenesis imperfecta depends upon the severity of the conditions. Despite bone deformity, restricted activity, and short stature, often patients with OI lead productive and near to normal lives.

Terminologies :

  • Osteogenesis : Growing new bone
  • Osteocytes : Bone cells
  • Osteoblasts : Bone cells building new bone structure
  • Osteoclasts : Bone cells which scavange bone tissue

Porotic Hyperostosis

Interestingly, in anthropology, a child's parietal fragments, excavated from some 1.5 million year old sediments in Tanzania reveal Porotic Hyperostosis, a pathology associated with anemia. The presence of this condition is evidence that past population suffered from chronic or episodic malnutrition, and subsequently a sub-discipline pale-nutrition has focused on the presence of Porotic Hyperostosis among other nutritional disorders.

Otherwise known as Osteoporosis Symmetrica, Cribra Crani, Hyperostosis spongiosa, and symmetrical osteoporosis, Porotic Hyperostosis is a medical disorder that affects the bones of the cranial vault. It is characterized by spongy or porous bone tissue. As the spongy tissue swells due to overgrowth, the tissue on the outer surface becomes thinner and more porous and begins to move. The spongy marrow could be seen in the skull's bones that become overgrown or in other bones as well.


Several studies vouch that Porotic Hyperostosis is caused by iron deficiency anemia and malnutrition. While anemia is accepted as the leading cause of this phenomenon, this is typically due to iron deficient diet. A study conducted in certain parts of the world indicated that the incidence was higher in people who had a low iron diet as compared to those who had an iron rich diet. There is also evidence that increased loss along with over-production of red blood cells (RBCs) as is seen in Hemolytic Anemia and Megaloblastic Anemia is the cause of Porotic Hyperostosis.


Weakness or lethargy either with rest or exercise, frequent headaches, problems with concentration or thinking, and a general feeling of grumpiness are some of the pertinent signs of Porotic Hyperostosis.


An imaging study of the cranial area can reveal the presence of soft bones in the cranial vault. Blood tests, which can reveal the presence of iron deficiency anemia along with other factors suggestive of malnutrition can aid diagnosis.


Due to excessive acidic content in the diet, there is accumulation of acidic waste in the body and this causes weak bones. Hence it is imperative a healthy and balanced diet with acidic and alkaline mix is maintained. Avoid foods containing synthetic chemicals like processed foods which cause damage to bones. Carbonated beverages should be avoided as much as possible. It is important to be careful with Osteoporotic medications as they can have significant side effects in the long run.

  • This is an extremely rare disease and the consequence of progression is quite unknown.
  • This is similar to those suffering from osteoporosis and thus a person with Porotic Hyperostosis is prone to fractures.
  • As bones in the body weaken due to accumulation of acid water, it is essential that you maintain the required pH in the body. Ensure that the diet includes some foods from the alkalizing list instead of the acidifying list.
  • Since synthetically processed foods can damage your bones, buy food products after reading their nutrition labels.
  • Drink natural fruit juices and avoid carbonated drinks.
  • It is good to go in for some weight bearing exercises such as jogging or walking.

Tags: #Paget's Disease #Osteogenesis Imperfecta #Porotic Hyperostosis
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Collection of Pages - Last revised Date: November 29, 2022