Strange disease causes ‘flesh to bone’, lying in one place for 40 years

Assoc. Prof. TS.BS Huynh Wynn Tran, currently living in Los Angeles, California, USA; is a specialist doctor at Methodist Hospital, said that for the past 2 years he has been treating a 54-year-old male patient with cancer. FOP . syndrome (Fibrodysplasia ossificans progressiva).

“For the past 40 years, this patient has had to stay in one place, have a caregiver, and come to the hospital for examination in a wheelchair,” said Dr. Wynn Tran.

The patient is currently being treated mainly with support and rehabilitation, pain relief with physical therapy combined with oral drugs.

A bone exam will show immature bones. Patients often suffer from athritisjoint swelling, muscle swelling and reduced mobility Illustration: shutterstock

According to Dr. Wynn Tran, this is one of the rarest diseases in the world world. There are currently about 900 patients with FOP globally, according to NORD (National Organization for Rare Disorders) estimates.

FOP disease is caused by mutations in the ACVR1 gene, leading to areas such as ligaments, muscles, tendons, etc., to be converted into bones. The mutated ACVR1 gene causes them to have an additional function that causes the ALK2 receptor to stimulate the BMP chain reaction, leading to activations that cause stem cells to convert into bone cells.

Patients with this disease cause the bones and soft tissues to gradually fuse together, leading to the bones becoming larger and larger, while the muscles increasingly atrophy and weaken. Bone changes through the calcification process lead to joint adhesions and reduced mobility.

Children with this condition are often born with very large toes (due to large bones) and large thumbs, and gradually develop other large bony lumps.

“The bone examination will show that the bones are not mature. Patients often suffer from athritisjoint swelling, muscle swelling and reduced mobility,” said Dr. Wynn Tran.

Diseases of the lungs or heart occur because the thoracic bones are limited and calcified. Diagnosis of the disease through clinical examination, found mutations in the ACVR1 gene. The majority of FOP diseases occur due to genetic variation, a few cases are inherited through the family through the dominant gene.

Over time, FOP can lead to total paralysis due to reduced mobility. Patients need care and physical therapy. Dr. Wynn Tran cautions against taking a bone biopsy or injecting it into the bone because it can stimulate further bone growth.

Current research is mainly aimed at gene therapy to prevent changes in the transition from stem cells to bone cells. Research on this disease can also be applied to other bone diseases such as Osteoporosis or bone cancer.