A paper from the HCU Network Australia survey on the experiences of the homocystinuria community, primarily with respect to diagnosis and their satisfaction with current treatment, has recently been published in OJRD Open.

This paper provides valuable insight into the problems faced by families with homocystinuria. Patients and carers with these rare diseases clearly feel that diagnosis and treatment are significantly delayed by the ignorance of doctors and sometimes a shortage of diagnostic facilities and experts. Unfortunately, the ‘diagnostic odyssey’ is particularly marked with the homocystinurias because most of the clinical features are non-specific, such as learning difficulties and clumsiness in children and thromboembolism in adults. The patient or family’s frustration is compounded when the diagnosis is eventually made (following irreversible damage) and they learn that the condition is treatable. We suggest that metabolic specialists teach mainstream specialist colleagues to have a low threshold for measuring plasma total homocysteine in patients with thromboembolism and children with learning difficulties. We also suggest it should be measured in all patients with dislocation of the optic lens, the most specific feature for CBS deficiency: several patients in this survey were initially misdiagnosed as Marfan syndrome.

Read the full publication here.