Rare Diseases

Up to 36 million people in the EU live with a rare disease. There are more than 6000 distinct rare diseases in the EU. So, whilst one rare disease may affect only a handful of patients, another may touch as many as 245 000. Around 80% of rare diseases are of genetic origin and, of those, 70% already start in childhood.

In Europe, a disease is considered rare if fewer than 5 in 10,000 people have it.

( Source: https://rarealliance.gr )

Rare diseases are characterized by a wide variety of disorders and symptoms that vary not only from disease to disease, but also from patient to patient with the same disease. Relatively common symptoms can hide rare diseases , with the result that patients , quite often, receive wrong diagnoses, or even remain undiagnosed for years , experiencing a “Diagnostic Odyssey” , which can last from 5 to 30 years.

Characteristics:

• Chronic, degenerative, and often life-threatening.
• They cause disabilities , affecting the patients’ quality of life.
• They remain undiagnosed or misdiagnosed for years , with an average diagnosis time of 6 years.
• 72% are genetic in nature , while the rest are the result of infections, allergies or environmental causes.
• 50% of them affect children , with 30% of these children dying by the age of 5.

Challenges:

• Delayed or incorrect diagnosis.
• Lack of information  and support.
• Unequal access to treatments.
• The lack of medical care of appropriate quality.
• Inadequate Social Services.
• The minimum treatments , since for 95% of Rare Diseases there is no medicinal preparation.

EXAMPLES OF RARE DISEASES

A) HIV associated Lipodystrophy

(source: source: https://hivinfo.nih.gov).

What is lipodystrophy?

Lipodystrophy refers to the changes in body fat that can affect some people with HIV. Lipodystrophy can include buildup of body fat, loss of body fat, or both.

Fat buildup (also called lipohypertrophy) can occur:

• Around the organs in the abdomen
• On the back of the neck between the shoulders (called a buffalo hump)
• In the breasts

Fat loss (also called lipoatrophy) tends to occur:

• In the arms and legs
• In the buttocks
• In the face

What causes lipodystrophy?

Lipodystrophy may be due to HIV infection or medicines used to treat HIV, but its actual cause is not understood. Newer HIV medicines are less likely to cause lipodystrophy than HIV medicines developed in the past.

Lipodystrophy is not a concern for most people who start HIV treatment now, because newer HIV medicines are less likely to cause lipodystrophy.

How is lipodystrophy treated?

If you have lipodystrophy, talk to your health care provider about treatment options. Your health care provider may recommend that you switch to another HIV medicine.

There are ways to manage lipodystrophy. Making dietary changes and getting regular exercise may help to build muscle and reduce abdominal fat.

Liposuction (surgical removal of fat) and injectable facial fillers are sometimes used to treat lipodystrophy. There are also medicines that may help lessen the effects of lipodystrophy.

Disclaimer: The information contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

B) Friedreich’s Ataxia

(source https://rarealliance.gr and orpha.net)

Definition

Friedrich’s Ataxia is an inherited neurodegenerative disorder characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of tendon reflexes, pyramidal tract symptoms, scoliosis and in some cases cardiomyopathy, diabetes mellitus, vision loss and hearing problems .

Epidemiology

The incidence of Friedrich’s Ataxia in Caucasians is estimated at 1/20,000 to 1/50,000 individuals.

Clinical description

The first symptoms of Friedrich’s Ataxia begin in childhood or adolescence. General clumsiness and gait ataxia (loss of leg coordination) are usually the first signs to appear, and are often followed by pyramidal signs, upper extremity ataxia, and dysarthria. Eye muscle motility disorders present early and include fixation instability (square-wave jerk) and nystagmus. Visual loss may occur later. Acoustic neuropathy (8-39% of cases), leads to hearing problems. Intelligence seems unaffected. Loss of reflexes and peripheral sensory loss is present in most cases. Dysphagia is mild at first, but in an advanced stage it can lead to choking on food and liquids. Scoliosis and foot deformities (pes cavus and talipesequinovarus) can be mild or severe. Spasticity, seen later in the course of the disease, can lead to discomfort, pain, positioning problems, and twitching in some patients. Cardiac symptoms (usually hypertrophic cardiomyopathy) usually develop later in the course of the disease, but rarely may precede neurological manifestations. Diabetes mellitus, seen in up to 30% of cases, often presents later. Bladder overactivity has been reported in some cases. The mean time from symptom onset to wheelchair dependence is 15.5 years (range 3 to 44). Several atypical phenotypes have been described, but the overlap is significant.

Management and treatment

There is no cure for FRDA and management is multidisciplinary. Physical therapy and the use of walking aids, prostheses and wheelchairs help maintain an active lifestyle. A speech therapist may be necessary. Stretching programs and the use of frame splints and pharmacologic agents (baclofen and botulinum toxin) help with spasticity. Treatment of cardiac disease includes anti-coagulants, anti-arrhythmic agents and pacemakers. Patients with diabetes mellitus usually require insulin. In later stages, a percutaneous endoscopic gastrostomy tube may be needed. Psychological counseling can be offered. Annual follow-up should include ECG, echocardiography and testing of blood glucose and glycated hemoglobin (HbA1c).

Prognosis

Prognosis has improved but quality of life is still significantly affected. Mean life expectancy is about 40 years, depending on age of onset and presence of diabetes and cardiomyopathy. Death is mainly due to heart disease (cardiac failure or arrhythmia) and bronchopneumonia.

Disclaimer: The information contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.