What is Fabry disease?

Fabry disease also referred to as Anderson-Fabry disease is a condition that affects many parts of the body. A buildup of a type of fat or lipids in the body’s cells causes the disorder. Fabry disease is classified as a problem of the lysosomes of the cells.

Lysosomes are small structure called organelles within the cell’s cytoplasm, containing enzymes that are necessary for the cell’s digestive process. Lysosomes use these digestive enzymes to recycle usable worn-out cell components.

In Fabry disease there is little or no activity of enzyme, α-galactosidase A, which breaks down a certain fatty substance called globotriaosylceramide. This deficiency of α-galactosidase A results in the altered metabolism and an accumulation of globotriaosylceramide in various systems throughout the body leading to pathology in multiple organ.

Typical associated symptoms and signs may include neuropathic pain, severe acute pain attacks, acroparesthesia or hearing loss, diarrhea, heart palpitations and pain, various eye disorders or difficulties such as closing of the cornea and cardiomyopathies.

Serious clinical disease, fortunately, only affects less than 2% of heterozygous females.
What is Fabry disease?

Autoimmune disorder

An autoimmune disease is a condition in which tissue injury is caused by T cell or antibody reactivity to self.

The immune activation may be initiated by infection, but then persist in the absence of any detectable microbial antigen. Autoimmune diseases are a family of more than 100 illnesses that develop when underlying defects in the immune system led to the body to attack its own organs, tissues and cells.

The diseases can be confusing and is probably when many people aren’t family with autoimmune disease or are unsure which illnesses fall into this category.

Furthermore, the names of these condition, which include Hashimoto’s thyroiditis, rheumatoid arthritis, systemic lupus erythematosus, Sjogren’s syndrome, celiac disease and multiple sclerosis, among other don’t have the word ‘autoimmune’ in them.

Pathologic autoreactivty or autoimmune disease is often accompanied by credited immune competence, with an increased susceptibility to both infection and malignancy.

It is striking that whole each autoimmune disease individually affects only a small number of people. The prevalence of all autoimmune disease is approximately 5-7%.

Because a complete cure is not available for nearly every one of these 100 autoimmune diseases, patients face a lifetime of illness and treatment.

Because most of these diseases disproportionately afflict women, and are among the leading causes of death for young and middle-aged women, they impose a heavy burden on patents’ families and on society.
Autoimmune disorder

Xeroderma pigmentosum

Xeroderma pigmentosum is a group of disorders characterized by hypersensitivity of the skin to sunlight, which results in atrophy of the exposed skin and development of pigmentation, telangiectasia, keratoses and cutaneous malignancy in childhood.

These changes result from defective DNA repair of damage done by ultraviolet radiation. When exposed to sunlight the UV radiation induces thymine dimmers and other damage in the DNA of human cells.

Normal individual have several mechanisms for repairing damaged DNA. These mechanisms are absent to various degrees in patients affected with Xeroderma pigmentosum.

Xeroderma pigmentosum was first named by Hebra and Kaposi in 1874 and the association of Xeroderma pigmentosum with neurological dysfunction by de Sanctis and Cacchione in 1932.

Clinical hallmarks of Xeroderma pigmentosum
*Severe photosensitivity
*Poikiloderma
*Dryness (xerosis)
*Premature skin aging
*Malignant tumors (squamos cell cancers, basal cell cancers and melanoma), most often on face, head and neck

Xeroderma pigmentosum is one of the few diseases that can cause poikiloderma at an early age. Poikiloderma is characterized by erythema, hyper and hypopigmentation as well as scaring and telangiectasias.

Xeroderma pigmentosum occurs in all races and affects both sexes equally.
Xeroderma pigmentosum

Paget’s disease of bone

Paget’s disease of bone also called Osteitis Deforms. The disease named after nineteenth century British surgeon, Sir James Paget. It was first described in 1876.

Paget’s disease of bone is a localized or multifocal disorder of bone characterized by abnormal bone turnover with increased osteoplastic bone resorption and compensatory increased osteoblastic activity.

Over time, the body compensates by creating excess periosteum over the affected bones, creating a deformed bony appearance upon x-ray.

This structural change produces bone that is expanded in seize, less compact, more vascular and more susceptible to deformity or fracture than is normal bone.

Paget’s disease is the second-most common bone disorder after osteoporosis in people age 50 and older. 

The disease is frequent in Europe, with the exception of the Scandinavian countries, and is frequent in regions inhabited by European immigrants such as North America and Australia.

It is believed that most patients are symptomatic, but a substantial minority may experience a variety of symptoms, including bone pain, secondary arthritic problems, bone deformity, excessive warmth over bone from hypervascularity, fracture and a variety of neurological complications caused in most instances by compression of neutral tissues adjacent to pagetic bone.
Paget’s disease of bone