World Health Organisation defines rare disease as “devastating lifelong disease or disorder ailment with a prevalence of 1 or less, per 1000 population”. The pitch of rare diseases is intricate and dissimilar. The outlook of rare diseases is continuously shifting, as there are new rare diseases and disorders being recognised and stated frequently in medical literature.

For a long time, doctors and researchers were not aware of rare diseases. However, it is important to take short as well as long term measures, with the aim of confronting this problem in a holistic and ample manner.

Diagnosis of rare diseases is an experiment even for medical profession because of many factors and the main being less information about disease and its severity. Many doctors lack appropriate training and awareness to diagnose and treat these conditions on time. And there is also lack of adequate screening and diagnostic facilities. Apart from this there is lack of awareness about rare diseases in general public. Delay in diagnosis or wrong diagnosis is expensive, time – consuming and also makes the patients to suffer badly.

There is instantaneous requirement to build awareness among general public, patients & their families and doctors. Unfortunately clinical experiments and research on rare diseases are very difficult, as the number of patient are very few. The problems becomes even serious as rare diseases are incurable in nature. Effective treatment is not available for most of the rare diseases. Hence, treatment becomes difficult even when a correct diagnosis is made.

As per National policy for rare diseases 2020, Ministry of health and family welfare, government of India, “there are 7000 to 8000 rare diseases, but less than 5% have therapies available to treat them. About 95% rare diseases have no approved treatment and less than 1 in 10 patients receive disease specific treatment”.

Education and awareness can strengthen healthcare system in India. Preventive strategies like educating general public and health professionals at large is very important. Educating public especially in the preconception and even after disease identification is vital. Other preventive strategies should include:

• Counseling preventive measures among couples with a family history of rare disease.
• Screening the pregnant on time.
• Counselling pregnant and families about bringing up challenges of rare disease child.
• If possible counselling and educating public to avoid marriages between carriers of genetic qualities that might upshot the birth of child with rare diseases.
• Screening new-born babies within few days of birth before symptoms of the disease manifest and treatment is initiated which prevents morbidity and mortality.
• Post-natal diagnosis and treatment (before complications manifest) of disorders
• Provide best supportive care to the affected patients. This would improve quality of life of affected individuals and families.
• Providing emotional and psychological support to affected individuals and families.

 Thus defining rare diseases to create awareness among public, training of doctors for better diagnosis, standardization of diagnostic modalities and development of newer diagnostic & therapeutic tools can improve the situation.

D A Kalpaja
Chairperson, Vydehi Institute of Medical Sciences & Research Centre

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Herpes simplex is one of the oldest diseases known to mankind. Von Hebra wrote the meaning of herpes in 1886. Herpes means to creep, to crawl. The skin lesions spread slowly to surrounding area. Herpes simplex is popularly called as “Fever blister”.  The meaning of fever blister is, every time person gets fever, vesicles and ulcer appear on lips, and around the nostrils. Fever may be of any origin, it may be malaria or an enteric fever. Herpes simplex is also called as “Cold sore”.  Every time person gets common cold, the vesicles and ulcer appear on lips, and around the nostrils. In one year, if person gets common cold twice, he will get herpes simplex twice. If person gets common cold 4 times, he will get herpes simplex also 4 times. Once fever subsides, or common cold subsides, herpes simplex also subsides.

What causes herpes simplex?

Herpes simplex is caused by a virus, called “Human Herpes virus 1 (HHV1)” and “Human Herpes virus 2 (HHV 2)”. Both belong to DNA group, and family Human Hepesvirdae family.  HHV 1 usually causes vesicles and ulcers around mouth, it is called “Herpes labialis”. HHV 2 usually causes vesicles and ulcers around genitals, it is called “Herpes genitalis”. When a person’s defense mechanism is lowered for any reason, either due to simple disease, or serious diseases like cancer, AIDS, or on steroids and anti-metabolites, person is more prone to develop herpes simplex. When a person with lower immunity comes in intimate contact with a person suffering from herpes simplex infection, the virus enters mucous membrane, or small cuts in skin. They start multiplying in the skin or mucous membrane and take rest. Then slowly find nerve filaments and climb along the nerve filaments and reach “Nerve ganglion”. They settle in nerve ganglion and stay permanently in nerve ganglion. As and when person’s immunity lowers, herpes virus gets activated and start multiplying in nerve ganglion, descends down  the nerve filament and reach skin or mucous membrane, and initiate inflammation in the form of pain, redness, vesicles, and ulcers. After few days, ulcer heal, if second time or again and again, if person develop fever or common cold, viruses in nerve ganglion climb down along the nerve filaments, and reach skin or mucous membrane, and initiate inflammation in the form of pain, redness, vesicles, and ulcers, called second attack of herpes  or “Recurrent herpes”.   

How many days necessary to produce clinical symptoms?

Once virus enters a person it will take 1 week to 2 weeks to produce clinical signs. If it is first attack, it may take 2 weeks; second or recurrent lesions may take 2 to 4 days.

How many people suffer from Herpes in the World?

World Health Organization estimated 3.7 billion people under the age of 50 years have HSV-1 infection globally. WHO estimated 417 billion people aged between 15-49 Worldwide have HSV-2 infection.

What are the symptoms of first attack? 

First attack is called primary attack. Primary attack of HHV 1 occurs in childhood. Primary attack is severe, person suffer from fever, body ache, head ache, irritation in the throat. On the lip, patient feels burning sensation and discomfort, redness and edema develop, small bumps will erupt. In 1 or 2 days, these bumps will change to water filled lesions called blisters or vesicles. In 2 more days, pus cells called neutrophils enter and change the vesicles to pustules. These vesicles and pustules are present in groups. They burst open leaving painful ulcers. Local lymph nodes enlarge and become painful. Slowly fever subsides, ulcer start forming crust and heals. Most of the time ulcer heals without producing a scar.  

What are the symptoms of second or recurrent attack?

Symptoms of secondary attack are comparatively mild. Fever and body aches are mild. In the same area, where the primary attack has produced blisters and ulcers, blisters and ulcers develop in and around the same area during recurrent attack.

What are the common sites for herpes attack?

Most of the time herpes lesions are found on the upper lip, lower lip, or around the nostrils in children. Herpes lesions are found on genitals in adults. Herpes lesions are also found on tongue, esophagus, and finger tips. 

What are the investigations?

Simple clinical examination is sufficient. Sometimes fluid of blisters is to be examined for giant cells, or taken for virus culture. Serum antibodies also can be examined. It is wise to investigate for underlying disease. All sexually active people are to be screened for HIV and other STDs.

Possible Complications of herpes simplex – Usually people adjust and try to live with attacks. Sometimes it will become problematic. The complications are:

• Severe disease in people with reduced immunity, especially in advanced HIV/AIDS cases. The ulcer may extend deep into cheeks and gums, and destroy parts of the lips and cheeks.
• Psychological impact – person will develop inferiority complex and depression in life. If herpes lesions start recurring on genitals, his sex life is disturbed, quality of life is disturbed and family life also gets disturbed.
• When a mother with herpes genitalis deliver, the baby while coming out of birth canal, will get infected, and the baby will suffer severely. The brain and spinal cord will also get infected.

What is treatment?

Simple local application of calamine lotion and antibiotic cream is advised till the ulcer heals. For fever and body ache paracetamol tablets are better. Antiviral drugs like Acyclovir to be taken under the guidance of doctors. 

Prevention

HSV-1 is most contagious during an outbreak of symptomatic oral herpes, but can also be transmitted when no symptoms are felt or visible. People with active symptoms of oral herpes should avoid oral contact with others and sharing objects that have contact with saliva. They should also abstain from oral sex, to avoid transmitting herpes to the genitals of a sexual partner. Individuals with symptoms of genital herpes should abstain from sexual activity whilst experiencing any of the symptoms. Personal hygiene and sexual hygiene are important.  

Dr Aarudhra Premchander, 
Vydehi Institute of Medical Sciences & Research Centre
Bangalore- 560066

Ph: 080 28413381/2/3/4

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