10 rare diseases and how they affect the body
1- Progeria
Also known as Hutchinson-Gilford Syndrome, progeria is a disease that consists of rapid aging, which begins in childhood. A baby can be born without showing symptoms of the disease, but in about a year its growth rates are significantly reduced, making it look similar to an elderly person.
Children with progeria suffer from baldness, aged-looking skin, and a small nose and jaw relative to the size of the head. In some cases, these patients are also diagnosed with diseases that affect the elderly more, such as cardiovascular problems, joint stiffness, hip dislocations, among others.
These children have normal intelligence and are able to interact with people according to their current age. However, life expectancy is only 13 to 14 years, with deaths typically reported from heart attacks or strokes.
The cause of the disease is a mutation in the LMNA gene, which is responsible for providing instructions for the production of the lamin A protein, which, in turn, determines the shape of the nucleus within cells. Therefore, this nucleus is heavily damaged, causing cells to die prematurely.
2- MDP syndrome
MDP Syndrome, an acronym for mandibular hypoplasia, deafness and progeroid characteristics, is a rare genetic disease that causes sensorineural deafness, lack of subcutaneous adipose tissue (fat) throughout the body, facial dysmorphism (sharp nose, small mouth and pointed teeth) and mandibular hypoplasia (short mandible).
The disease appears in childhood and is also diagnosed with more severe symptoms, such as growth retardation, skeletal muscle atrophy, hypertriglyceridemia, diabetes mellitus and insulin resistance, lack of breast development, in the case of women, cryptorchidism (testicles grow outside of the scrotum), in men, among other effects.
The cause of MDP Syndrome is usually due to an anomaly in the POLD1 gene, on chromosome 19, and the patient’s appearance begins to indicate the disease in the first years of life. The physical characteristics are caused by the slow growth of cartilage and ligaments, but mainly by the lack of fat under the skin, which ends up leaving it very firm.
3- Fibrodysplasia ossificans progressive
Fibrodysplasia ossificans progressive (FOP) is a disease classified as very rare that is characterized by abnormal bone growth in areas of the body that normally lack bone structure and usually after trauma. Thus, ligaments, muscles and tendons end up undergoing a metamorphosis and turning into bone, resulting in the locking of joints, which prevents the patient from moving.
According to Dr. Sergio Setsuo Maeda, president of the Brazilian Society of Edocrinology and Regional Metabolism in São Paulo, the disease is progressive. “Among the early signs of the disease are: deformity of the big toe, shortening of the thumb, stiffness of the neck, for example. Calcifications occur in muscles, ligaments and tendons after local swelling and can be confused with soft tissue tumors. affect the trunk and limbs, making breathing and locomotion difficult, and even chewing can be harmed when it happens close to the jaw joint”, he explains.
Symptoms begin to appear during the first years of life, with the disease worsening with age, with a life expectancy of 41 years. Most of the cases are due to the mutation of the ACVR1 gene in the bone morphogenetic protein (BMP) pathway, which plays an important role during the formation of the skeleton as an embryo, and its repair after birth. About 50% of patients have changes in the big toes and thumbs at birth, or in the cervical vertebrae, neck and femur region.
Unfortunately, the disease does not have a specific treatment, but according to Maeda, medications are currently being tested. “It is important to early diagnosis and prevention of traumas that trigger calcifications, such as intramuscular injections or physical exercise. The quality of life is extremely impaired in patients with the disease”, completes the doctor.
4- Eosinophilic gastroenteritis
The rare digestive disease eosinophilic gastroenteritis consists of abnormalities in the gastrointestinal function, characterized by eosinophilic infiltration in the stomach and duodenum, which causes severe abdominal pain, heartburn, vomiting, diarrhea, weight loss and abdominal distension. Therefore, people with the disease, in very serious cases, cannot eat, since the organ can start to consider food as an invader, requiring feeding via tube.
Eosinophilic gastroenteritis was discovered in 1937 and its cause is still unknown, which may involve allergy to some types of food or other substances, and many treatments are performed with corticosteroids.
The disease affects 100 people out of 100,000, mainly men.
5- Aquagenic urticaria
Aquagenic urticaria is a severe form of allergy in which urticaria develops quickly after simple contact with water, regardless of origin and temperature; Symptoms begin to appear at puberty, especially in women, with redness, swelling with welts and itching, usually developing in the arms and upper trunks.
After removing the water from the body, which caused the urticaria to develop, the damage to the skin disappears in about 30 minutes to an hour. The cause of the disease is still mysterious to scientists, but there are hypotheses related to a possible substance that is dissolved in water, or even the encounter of water with some substance generated in the material of the skin.
Just as there is not much information about the cause of the disease, there is also no effective treatment. More severe cases may present with symptoms of anaphylactic shock, such as shortness of breath and a heavy chest, a feeling of a closed throat, and swelling of the face. All symptoms can be relieved with some medications, such as epinephrine, antihistamines, anticholinergics, oils and creams that can prevent contact with water, and a visit to a suitable professional.
Patients who suffer from water allergies should reduce the number of baths and the time it takes, avoid intense physical exercise, as even sweating can cause a reaction, avoid seas and swimming pools, and when drinking water, choose a straw not to let the liquid come into contact with your lips.
6- Persistent Genital Arousal Syndrome
Persistent Genital Arousal Syndrome is a rare condition in which the patient experiences sexual arousal without stimulation, showing swelling in the vaginal region or erection, and causing constant orgasms, which impairs the quality of life. The disease affects more women, but there are also reports of men who have an erection for several hours.
Some doctors recommend masturbation for temporary relief to patients, but the frequency can end up making the symptoms worse in the long run, as well as the situation as a whole. Treatments are also performed with anesthetic gel, electroconvulsive therapy, used in psychiatric therapies, or transcutaneous electrical stimulation, relieving nervous pain
Treatments with antidepressant medications have also been used to inhibit the reuptake of serotonin, as the causes can be consequences of anxiety and depression, as well as gels and creams that numb areas of the body, such as those made with lidocaine. Behavioral therapy is also recommended to find out what may be triggering the illness.
7- Extremely severe verruciform epidermodysplasia
One of the most visually severe serious diseases is very severe verruciform epidermodysplasia, caused by a type of HPV virus (HPV5 and HPV8, mainly), which consists of the formation of numerous warts throughout the body, causing the patient’s limbs to resemble the tree trunks. Warts usually appear between five and 12 years of age, on the face, feet and hands, multiplying quickly and leaving the skin sensitive to the sun.
About 30% to 80% of patients end up developing skin cancer, non-melanoma, between 40 and 50 years of age, especially in areas that are usually exposed to the sun. In most cases, patients with the disease are children of marriages between siblings, parents and children or first cousins, which is known as consanguineous marriage, and the condition is not passed on from parents to children.
The treatment of very severe verruciform epidermodysplasia involves surgery to remove the warts, a procedure that can be done several times, as the disease has no cure and the warts continue to appear and increase. Without care, the size can reach the point of preventing hygiene and carrying out daily activities.
Treatments are also carried out with salicylic acids, retinoic acids, levamisole, thuys CH30, acitretin and interferon. For patients who develop cancer, chemotherapy can be effective in helping to prevent the warts from spreading.
8- Prader-Willi Syndrome
Prader-Willi Syndrome is a chronic genetic disease that appears during conception, normally caused by the deletion of a part of chromosome 15, transmitted by the father, affecting both men and women. According to Dr. Lorena Lima Amato, the syndrome can be characterized by hypotonia, hypogonadism, hyperphagia, cognitive impairment, behavioral disorders and potentially fatal obesity.
The main symptom of the disease is excessive consumption of calories, together with compulsive eating behavior and low physical activity. Due to damage to the hypothalamus, which is in the brain, the patient feels hungry all the time and does not feel satiated, gaining weight quickly. Also among the symptoms are speech and learning difficulties, hormonal changes, short stature, strabismus, emotional instability, less sensitivity to pain, among others.
“It is a severe, complex syndrome that, so far, has no cure. An early diagnosis, before the onset of symptoms, especially obesity, has brought an improvement in the quality of life of patients in recent years. But still in this case. of late diagnosis, a series of care can be started, returning the quality of life of patients. Patients with this syndrome, in general, need some level of assistance or supervision in their diet, even when they are well informed of their health condition”, he explains the doctor.
9- Central Hypoventilation Syndrome
Central Hypoventilation Syndrome is a rare disease that is a disorder of the autonomic nervous system, affecting the breathing of the patient who hyperventilates, especially during sleep. As a result, carbon dioxide builds up in the blood and results in a lack of oxygen.
The disease can be diagnosed when the patient is still newborn, with babies showing a bluish appearance on the skin or lips, but it also affects children and adults, causing a decrease in heart rate and blood pressure, low pain perception, constipation, among other symptoms. Babies and children who have the syndrome can also suffer sudden death.
The cause of the syndrome is a mutation in the PHOX2B gene, which is expressed in the nervous system, with more than 90% of cases not being inherited from the parents. Treatment can be with mechanical ventilation or with the use of a diaphragm pacemaker.
10- Kleine-Levin Syndrome
Also known as Sleeping Beauty Syndrome, Kleine-Levin Syndrome is a neurological disorder that causes excessive sleep, causing the patient to fall asleep for 20 hours a day. The problem directly affects the personal and professional life and routine of the person who has it, since sleep cannot be controlled.
The disease begins to show signs mainly in adolescence, but it can start to appear in childhood or only in adulthood, with greater recurrence in men, around 70%. The first episode is usually triggered after an infection, with patients experiencing between seven to 19 attacks over 10 to 13 days, with recurrence every three and a half months.
In addition to sleep, people with the syndrome face apathy, confusion, sluggishness and amnesia, some even experiencing episodes of hypersexuality, anxiety, compulsive mood swings or depression. Treatment involves stimulant medications and mood stabilizers, and there is still no definite cause.