Home » Rare diseases » Rare disease found to affect one in a million

Michelle Davis

Executive Director, International FOP Association (IFOPA)

New research by prominent fibrodysplasia ossificans progressiva (FOP) specialists indicates a higher prevalence of the disease in the US, emphasising the need for correct diagnosis and access to care.

Fibrodysplasia ossificans progressiva, or FOP, is a disabling genetic condition that causes bone to form in the body’s soft and connective tissues. Procedures like biopsies can actually cause the disease to progress more quickly, so early diagnosis and proper care is critical. Bridges of extra bone develop across joints, progressively restricting movement and imprisoning the body. There are currently no treatments or a cure for FOP.

The International FOP Association (IFOPA) partnered with Drs Ed Hsiao, Fred Kaplan and Bob Pignolo to conduct a research study to better determine the prevalence of FOP in the United States. The study found the prevalence to be 0.88 per million US residents, or approximately a prevalence of one in a million.

Still ultra-rare, but more common than previously thought

This means that roughly 7,400 people are living with FOP in the world. The higher prevalence of FOP underscores the urgent need to discover treatments, a cure and spread awareness of the condition—especially to geneticists, orthopaedists, paediatricians and rheumatologists who most commonly diagnose the disease.

The higher prevalence of FOP underscores the urgent need to discover treatments and a cure.

Identifying genetic conditions and FOP

The IFOPA works in partnership with researchers, pharmaceutical companies and the health care community to raise awareness of FOP while supporting the individuals and families affected by this debilitating disease. Two helpful points to remember when identifying FOP are:

A bilateral deformity (such as two malformed big toes) is a clear indication of a genetic condition.

Malformed big toes plus unexplained swellings is a clear indication of FOP.

Increasing awareness and access to proper care

Early and accurate diagnosis of FOP is critical. Once diagnosed, people with FOP can be connected to research studies and clinical trials. Through the IFOPA, people affected by FOP can also meet others living with the disease and access resources, education and support to cope with the challenges associated with the condition.

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