The Suffering Little "Princess": A Familial Mediterranean Fever Case

A three-and-a-half-year-old girl was brought by her parents with a long history of suffering that began when she was only 6 months old. She had recurrent attacks of fever and "colic" that became more frequent over time, eventually presenting as episodes of high fever, very severe abdominal pain and knee pain — occurring almost every week.

The parents were heartbroken every time an attack came, and helpless to ease her pain. Many investigations had been done without a diagnosis; several medications had been tried without benefit. They were exhausted by a mysterious disease that had caused so much suffering in such a young child.

This account describes the course of one child, shared with her family's permission. It is not a typical presentation, and it does not predict how any other child will respond to treatment.

The clinical suspicion

We suspected Familial Mediterranean Fever (FMF) — an inherited autoinflammatory disorder characterised by recurrent attacks of fever and inflammation, commonly involving the abdomen, chest or joints.¹ Prevalence varies considerably by ancestry and population, so FMF is far from uncommon in some communities and unusual in others.

Recurrent fever with abdominal pain does not automatically mean FMF. Infection must be excluded or treated, and other inflammatory, genetic and medical explanations have to be considered before an autoinflammatory diagnosis is accepted.

We sent for genetic testing and, in parallel, started treatment with colchicine at a low starting dose, with the intention of titrating according to response and tolerability.

The next attack came a week later and was still severe, so the dose was increased under close review. The parents were initially concerned about side effects and objected. We explained that colchicine has a well-established role in FMF, but that dosing, adverse effects, interactions and monitoring require medical supervision² — and they agreed to continue.

The turning point

One week later the father called — ecstatic. She had another attack, but it was the mildest she had ever had: only mild fever and mild knee pain, and no abdominal pain at all. For the first time in three years, the family saw hope. One improved attack does not by itself demonstrate long-term treatment success; that is judged over months of follow-up.

Genetic testing identified MEFV variants that supported the clinical diagnosis. FMF remains a clinical diagnosis, and genetic results must be interpreted alongside the pattern of attacks, examination, family history and treatment response.¹

The diagnosis provided a coherent explanation for her recurrent attacks and allowed preventive treatment and monitoring to continue.

Why this case matters

• Attack control: Colchicine is the established first-line treatment for FMF and is adjusted according to age, response, tolerability and monitoring.² It reduces attack frequency and severity for many people with FMF, although response varies and adherence and monitoring remain important.
• Reducing the risk of amyloidosis: Persistent uncontrolled inflammation in FMF can lead to AA amyloidosis, which may damage the kidneys. Regular treatment and monitoring are intended to control attacks and suppress inflammation, reducing this risk.²

Colchicine should not be started, stopped or adjusted without medical supervision. Monitoring may include clinical review and laboratory assessment according to the patient's treatment and circumstances.

Recurrent unexplained fever accompanied by abdominal, chest or joint pain — particularly when episodes follow a recognisable pattern — warrants medical assessment. FMF is one possible explanation, but other causes must be considered.

It is always gratifying to ease the pain and suffering of patients — but especially so when we can end years of suffering in a child.

Paediatric rheumatology at Health Call Clinic

Dr Bassel Darwish is a Consultant Rheumatologist with expertise in paediatric rheumatology and autoinflammatory diseases, including FMF and juvenile idiopathic arthritis. Consultations are available at Dubai Healthcare City.

Author's note: This story is shared with the permission of the patient's family. All identifying details have been removed or altered to protect privacy; the clinical course described is specific to this child and has not been externally verified.