What is Fibrodysplasia Ossificans Progressiva? How it can be treated?

 

Fibrodysplasia Ossificans Progressiva, also known as FOS or FUS, is rare, inherited autosomal dominant inherited disorder, characterized by a malformation of the large toe. It can be either primary (genetic) or secondary, meaning that it can be caused by one or more genes from other members of the family. The majority of cases are caused by an autosomal genetic abnormality at the place of the fusion of cells forming the vertebrae. Secondary fibrodysplasia tends to be due to gene abnormalities at several locations throughout the body and tends to affect both dogs and cats. 

 

Fibrodysplasia Ossificans Progressiva, like most other cases of FOS, is most often diagnosed in adult cats. A thorough history of the animal's symptoms and behavior is necessary for a successful diagnosis, as is a thorough examination of the kitty's limbs, including the toes. An ultrasound, along with a skin biopsy, is generally required to support a conclusive diagnosis. Progressive heterotopy refers to a condition that results from the abnormal formation of a blood cell characteristic of fibroid tumors (HHE) in cats. Most of these tumors are benign but an increased risk of occurrence of HHEs with progressive heterotopy exists. Treatment is directed at reducing the possibility of additional tumors forming.

Since the most common abnormalities involve the fusion of bones together at a later stage in development, diagnosis usually revolves around palpation. Ultrasound can reveal the presence of congenital cysts that probably contain osteogenic myopathies. Ultrasound and blood tests may also reveal subtle changes in tissue, such as the positioning of bone cells or nodules.

It has been shown that in cats with FOS, trauma, either physical or sexual, causes abnormal bone formation, including hypertrophy, an excess of bone formation. This abnormal bone formation is accompanied by abnormal stretching of the connective tissues (striae). Treatment for Fibrodysplasia Ossificans Progressiva usually involves surgical removal of the abnormal structures and replacement with normal bones.

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