Notes from the FDSSUK Annual conference in Edinburgh Saturday 1st June 2019

A brief overview of FD/MAS was given with an explanation of how bones and hormones are affected by the disease.

We were shown an article dated back from 1936, which was written by Donovan McCune and Fuller Albright. There have been many different names for the disease over the years.

There is not much literature available so, NIH started a study in 1998 of patients of all different ages with FD/MAS. The data has been collected on each patient from all different types of Dr’s involved within their care plans. Working internationally with other Dr’s and sharing information has helped improve the literature in more recent times.

We were shown graphs with percentages from the study and the skull, pelvis and femur are the most commonly affected bones. We were shown examples of x-rays showing the spine and femur. It has recently been found that the pancreas can be affected.

There were also some images of skull-based FD and Dr. Collins explained the types of obstructions that the disease can cause to the optic nerve and ear canal. Early diagnosis, careful observation and watchful waiting is highly recommended over surgery.

We were then shown some slides with information on how the gene mutation happens. The disease establishes itself in the cells very early on during the pregnancy. It will not spread to other parts of the body or appear in unaffected bones later on in life. It is not inherited.

Dr. Collins explained the symptoms of precocious puberty for both girls and boys, including growth issues and he described the drugs that are available for this. Early diagnosis is best. He also went on to give a description of hyperthyroidism and phosphate issues and the treatments currently available.