Gaucher Disease Guidance Could Help Non-specialists Diagnosis It Better, Study Reports

Gaucher Disease Guidance Could Help Non-specialists Diagnosis It Better, Study Reports

Doctors who are not Gaucher disease experts should have straightforward and easy-to-follow diagnosis guidance so patients can be treated earlier, according to a study reporting that it can take years for a patient to learn they have the disorder.

The research was based on surveys of patients and Gaucher specialists. Both said lack of awareness of the disease can lead to misdiagnoses, prolonging the time it takes for patients to obtain treatment.

Researchers at Royal Free Hospital in London and University College London Medical School talked with 212 patients and 16 experts to come up with a typical diagnostic journey. The experts were from 14 Gaucher specialist centers in 12 countries.

The study, published in Molecular Genetics and Metabolism, was titled “Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.”

Patients said the most common conditions that spurred them to seek medical attention were anemia, bone pain and bleeding — which reflected a low blood platelet count — and an enlarged spleen, which showed up as a swollen abdomen.

Patients were typically seen by primary care physicians, pediatricians, hematology or hematology-oncology experts when they started experiencing symptoms. Hematology specialists deal with blood disorders and hematology-oncology specialists with blood cancers.

The 16 experts who took part in the survey said many of the doctors whom patients see first often do refer the patients to Gaucher specialist centers.

While most patients in the survey were diagnosed properly within a year, it took seven years or more for 14 percent to obtain the right diagnosis.

Patients said living without a diagnosis was physically and mentally challenging — and in some it even triggered depression and suicidal thoughts. Twenty-three percent reported that doctors they saw were unaware of Gaucher disease, particularly general practitioners.

In addition, 13 percent said they had been misdiagnosed. Doctors believed that nearly half who fell into that category had cancer.

Gaucher is a difficult disease to diagnose, researchers noted. It’s not only a rare condition, but its severity and symptoms can vary widely from patient to patient. The fact that the disease can strike in either childhood or adolescence adds to the diagnostic difficulties.

This means that raising awareness of the disease among non-expert physicians, and providing them with guidance that helps them diagnose Gaucher disease, could increase the rate of early diagnoses, the researchers concluded.

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Magdalena is a writer with a passion for bridging the gap between the people performing research, and those who want or need to understand it. She writes about medical science and drug discovery. She holds an MS in Pharmaceutical Bioscience and a PhD — spanning the fields of psychiatry, immunology, and neuropharmacology — from Karolinska Institutet in Sweden.

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