KOCHI: Does your child get a spike in temperature every few weeks for a few days with no apparent cause? They settle as mysteriously as they appear until the next time. No cold or cough, but a similar picture every time. Sometimes, the kid develops rashes or swollen joints or ulcers in the mouth. Severe tummy aches or chest pain is also noticed alongside the fever. Fever medications and antibiotics don’t seem to stop its recurrence the next month.
The parent can almost predict when the temperature will spike again. In some children, the symptoms begin during infancy, while in others, they might develop when they are older. These are the Periodic Fevers or Autoinflammatory Diseases. These are diseases arising due to a genetic deficiency, mostly presenting itself in childhood, where kids develop fever and inflammation without an external trigger.
Cyclic fevers have been reported as early as the second century AD by famous Greek physician Galen. He attributed them to different phases of the moon. Later, those like Sir William Osler, Heberden, Janeway and Mosenthal would observe a series of patients who displayed periodic or recurrent fevers that perplexed them. The world was waiting for advancements in molecular biological techniques and genetics to understand these conditions further.
In 1997, the gene for Familial Mediterranean Fever ( the MEFV gene) was identified for the first time. Intermittent episodes (monthly, fortnightly) where patients experienced one or two days of high fever was painful due to joint swelling and severe tummy aches.
The problem was if you leave these untreated, they accumulated inflammatory fluids called Amyloid protein in the body, slowly destroying organs (especially the kidneys). Thankfully, regulkar ingestion of a medication (commonly used in gout) called Colchicine, an extract from Colchicum autumnale or the autumn crocus, helped prevent these attacks in a majority of these patients.
Following this, newer genes were identified as the culprits for hitherto undiagnosed clinical syndromes and many more new diseases (TRAPS, HIDS , CAPS, Dada2, Blau etc) started getting discovered. Today we have more than 54 described autoinflammatory syndromes and counting.
The author is a Paediatric Rheumatologist and HOD,
Department of Rheumatology & Clinical immunology at Amrita Institute of Medical Sciences
What is common to the condition?
Periodicity of a specific symptom with normalcy in between. However, there are several conditions where the periodicity is lost with time or when the condition is obvious in a young infant, it’s often a prolonged episode rather than periodic. One might learn about members of the family who have undergone organ transplants or passed away due to organ failure.
What are the challenges?
Getting children referred to the right specialist (often a rheumatologist) for diagnosis and management.
The most common autoinflammatory disease called PFAPA( these children have Recurrent fever, enlargement of nodes in the neck, severe throat inflammation and oral ulcers) has no confirmed genetic mutation so far but can be managed very satisfactorily.
Getting the right treatment
These are rare diseases and we need the patients to be managed in specialist centres. The initial diagnostic period is the most challenging. Once treatment is established, the hospital visits can be reduced considerably and the affected individuals can enjoy a good quality of life.
When a kid’s temperature spikes, parents generally panic. The most common cause of fever in a child is an infection, often viral. Immune-mediated disease and a few types of cancers can also start as an infection.