Stone Man Disease PDF

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description of this rare disease and the effects of it. final project...

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Anatomy 236 Stone Man’s Disease

Fibrodysplasia Ossificans Progressiva is one of the rarest types of disorders of the human body. A person suffering from the disorder will slowly become trapped within his or her own body, frozen as the ossification of the fibrous tissues ravages the person’s body. Muscle slowly turns to hard bone, leaving the person with little to no movement in the areas affected. Complete paralysis of the body will be the final stage of the disease. In the small amount of research being done, small breakthroughs have happened, but this disease still remains without a cure and any successful treatment options. Prognosis remains dim for patients as they will likely only live to see forty. One of the rarest disorders in the world, Fibrodysplasia Ossificans Progressiva affects only one in every two million. Less than two thousand cases exist worldwide. This condition, also known as Stone Man’s Disease, essentially turning a person’s fibrous tissues like muscles, tendons, and ligaments to become ossified into bone. The disorder will only affect fibrous tissues and does not affect smooth muscle tissues like the eyes, cardiac muscle, respiratory system, or the stomach. This disease also will not affect brain activity or IQ. Fibrodysplasia Ossificans Progressiva will form this second skeleton within the patients body ceasing joint movement until the person becomes completely paralyzed. A major symptom that is commonly shared by all those who suffer from Fibrodysplasia Ossificans Progressiva are the malformation of the big toes typically seen at birth. The big toes will either be turned outward or inward and can some-

times be shorter than the rest of the toes. In early childhood, painful tumor-like swellings will begin to appear and become visible on the neck, shoulders, and the back. This tumor-like swellings will appear suddenly without any warning. Due to this symptom, Fibrodysplasia Ossificans Progressiva is often misdiagnosed as cancer. But these lumps called fibrous nodes eventually will transform to bone later. This will usually always appear on the neck and shoulder region and then travel downwards affecting areas like the spine, limbs, and torso. Along with these, painful skin sores will appear often developing from the pressure of the bones forming underneath. The sores may also pierce the skin if the bone growth puts constant pressure on the skin. Further more, bed sores may develop as the person becomes bedridden without proper treatment for bed sores. When someone is suffering from Fibrodysplasia Ossificans Progressiva, the quality of life is usually very poor. Typically the ossification of muscle, tendons, and cartilage will begin in early childhood beginning in their neck and the shoulders and then travel downwards. Commonly affected areas include neck, spine, chest, shoulders, elbows, wrists, hips, ankles and the jaw. As the disease progresses, movement becomes very limited until complete paralysis occurs. A person suffering from this disorder will have a magnitude of problems to deal with in his or her lifetime aside from becoming paralyzed. For example, if new bone growths start in the jaw, eating and talking become difficult. If new bone growth begins in the rib cage, it will cause breathing to become difficult. This disease can attack any fibrous muscle at any given time causing it to stop working properly therefore freezing it to bone. Yet, patients will experience new bone growth and disease progression at different rates. Along with this, “patients with FOP may experience a flare-up, or a sudden worsening of symptoms if they experience any trauma to the muscle or connective tissue”

(www.wellness.com). Compared to a normal person, a small fall would virtually do nothing but leave a bruise, but someone with Fibrodysplasia Ossificans Progressiva, it can cause major damage and cause new bone growths to form in the affected area. Life expectancy is rather poor also, most patients will live until their early forties. But majority of the patient experience complete paralysis within his or her own body by the age of twenty five. Before eventually becoming bedridden by the time they reach thirty. Research as shown that Fibrodysplasia Ossificans Progressiva can be caused by a mutation of the gene ACVR1 on Chromosome 2g23. ACVR1 is an important bone morphogenetic protein that is a, “signaling switch in cartilage cells of the growth plates of growing bones, especially in the hands and feet, as well as in the cells of skeletal muscle” (www.uphs.upenn.edu). But in those who suffer from this disease, the ACVR1 gene is damage by the simple substitution of a single genetic letter. Due to this, it changes the meaning of the genetic message that is encoded in the ACVR1 gene. As one of the lead researchers described it, ““The substitution of one genetic letter for another out of six billion genetic letters in the human genome – the smallest and most precise change imaginable – is like a molecular terrorist that short circuits a functioning set of muscles and connective tissues and transforms them into a second skeleton – in essence turning a light bulb into an atom bomb,” (Kaplan). Researchers also believe that due to this mutation of the ACVR1 gene, the gene is constantly on sending signals to the protein bone morphogenetic protein to signal growth. This then causes the overgrowth of bone cartilage and the fusion of joints in a person who is suffering from this disorder. Aside from the mutation of ACVR1, it is also found to be inherited in some cases, but this is very rare. It follows an autosomal dominant pattern in which one copy of the

altered gene is in each cell and is sufficient enough to cause the disorder to begin. But majority of the new cases results from the mutation of the genes even with no previous family history of the disease. As of today, there are still no current cures of this rare disorder. There are very selective treatments that a patient can choose from. But, they basically aim at making the patient more comfortable as the disease progressives . There is still a huge absence for any effective treatments to help patients. Surgery was previously used to help remove bone growths but this treatment has been shown to only cause worse bone formation in the healing process. This was due to the area becoming inflamed in and around the insision, the inflamed area then would cause a greater growth of bone in and around the incision. Medications have been found to help patients with the discomfort they feel from Fibrodysplasia Ossificans Progressiva. High doses of Corticosteroids have been shown to help reduce inflammation and also acute tissue edemas. Yet, even these medications will not work for the patient in the long run and should only be used in the beginning stages of the disease. Some patients will begin to switch to long term medications like Cox-2 inhibitors along with NSAIDS for the long term treatment. Both medications are non-steroid and also help to battle against inflammation. Et they are not effective in the treatment of the disease. Currently, only one laboratory in the United States is putting in effort into researching and finding better treatments for Fibrodysplasia Ossificans Progressiva. Since the disease is very rare not many want to fund research and put man hours into the research, This laboratory can be found at The University of Pennsylvania School of Medicine. Years of research on the disorder by this laboratory has lead to a mini breakthrough, “Researchers at the University of Pennsylvania School of

Medicine have located the “skeleton key,” a gene that, when damaged, causes the body’s skeletal muscles and soft connective tissue to undergo a metamorphosis into bone, progressively locking joints in place and rendering movement impossible.” (www.uphs.upenn.edu). Due to this research, the doctors have been able to pinpoint the exact location of where the mutation occurs in the genes. A receptor called ACVR1 plays a role in bone growth and develop, a mutation of this receptor will cause them to be constantly turned on causing abnormal bone growth. Aside from this laboratory, The Weldon FOP Research fund is the largest research fund for this disorder and this organization has funded research for more medications and treatment options. A worldwide trail drug study was funded by this organization using the drug Palovarotene. Previous trial studies were done on mouse models and have shown to be successful in numerous mouse models. But until more research has been done and patients are found, it will remain a possibility for a new future treatment. Fibrodysplasia Ossificans Progressiva is still a widely misunderstood rare bone disorder that affects a small portion of the worlds population. A disease that physically alters and transforms a person’s skeleton. The small mutation of the ACVR1 gene causes the bone growing proteins to be stuck in overdrive as they constantly build new bone within the person’s fibrous tissues. As more bone grows, the limitations on movement grows before the disease physically freezes the person. The person will become trapped within his or her own bodies as the disease progresses. The small amount of research done has generated some positive steps forward, but no true treatment or cure has been discovered yet. For those who suffer, the outlook on life remains grim as complete paralysis takes over freezing them place within his or her body.

Work Cited

"Fibrodysplasia Ossificans Progressiva." Fibrodysplasia Ossificans Progressiva. Genetics Home Reference, Aug. 2007. Web. 18 Nov. 2014. "Fibrodysplasia Ossificans Progressiva (FOP)." Rare Disorders. Fibrodysplasia Ossificans Progressiva (FOP), 8 Oct. 2010. Web. 18 Nov. 2014. "Fibrodysplasia Ossificans Progressiva (FOP) Symptoms and Causes." Wellness.com. Wellness.com, Inc., 2014. Web. 18 Nov. 2014. "Fibrodysplasia Ossificans Progressiva (FOP)." Wellness.com. Wellness.com Inc, 2014. Web. 18 Nov. 2014. "Fibrodysplasia Ossificans Progressiva Presenting as a Neck Mass." International Journal of Pediatric Otorhinolaryngology 77.12 (2013): 2092. Fibrodysplasia Ossificans Progressiva. Www.IFOPA.com, 2011. Web. 14 Nov. 2014 "UPHS News: Penn Researchers Discover Gene That Creates Second Skeleton." UPHS News: Penn Researchers Discover Gene That Creates Second Skeleton. Penn Medicine, 23 Apr. 2006. Web. 18 Nov. 2014....