There is a bone fragility that does not concern the elderly, but rather can manifest itself in the first six months of life and sometimes even in the mother’s womb. It is the one caused by hypophosphatasia, a rare disease that little is known and talked about, but to which World Day is dedicated today, which this year is also celebrated in Italy for the first time. The slogan of the event is “Let’s make a move together” because only together – patients, families, doctors and researchers – is it possible to allow a patient to no longer fracture, to no longer cry out in pain, to go for a walk and to be a useful person to himself and to society. Also today in Rome a round table is also organized with experts from various sectors and with patients. The international event aims to raise awareness among public opinion and the world of politics towards a disease which, despite being defined as rare, afflicts many people.
What is hypophosphatasia
It is a congenital, metabolic and progressive disease that leads to the depletion of bone and dental mineral. “Hypophosphatasia is caused by mutations in the gene that allows the synthesis of the non-specific bone alkaline phosphatase protein, present in the bone – underlines Maria Luisa Brandi, president of FIRMO – Italian Foundation for Research on Bone Diseases. It is a pathology that can already manifest itself in the prenatal period and also cause the death of the fetus in utero. It can also manifest itself in the first six months of life and have an autosomal recessive inheritance, i.e. both parents are ill, or healthy carriers. In this case it turns out to be fatal for 50-90% of patients.” Lhypophosphatasia it is highly disabling and requires targeted pharmacological treatments. “If alkaline phosphatase is not adequate – continues Brandi – the bones can become weak or soft. It is estimated that severe forms occur in approximately one case in 100,000 live births but we do not know exactly how many people overall are affected. The incidence could be much higher and even reach one case every 5/6000 people. The reason for this uncertainty, at an epidemiological level, is to be found precisely in the presence of numerous variants that manifest themselves with different and not easily recognizable symptoms”.
The difficulty of diagnosis
The clinical course may be less aggressive but for this reason the diagnosis is more difficult, especially among adults. “To identify this pathology, a metabolic biochemical evaluation is necessary which measures the levels of non-specific bone phosphatase and the substrates that are metabolised by this enzyme – he continues Domenica Taruscio, former Director of the National Center for Rare Diseases of the Istituto Superiore di Sanità. Analysis of the ALP gene mutation can be added to the metabolic evaluation. A correct diagnosis allows adequate care of the patient.”
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The consequences
“Among those who are no longer very young, on average it tends to appear between 40 and 50 years of age. It is estimated that half of the patients experience very early tooth loss while 35% experience fractures, especially of the long bones”, continues Brandi who adds: “The other symptoms are motor and walking difficulties, profound muscle weakness, kidney stones. , insomnia, anxiety and depression and respiratory disorders. They are all non-specific manifestations and risk being mistaken for other less serious health problems.”
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The impact on quality of life
The repercussions on the daily lives of those suffering from this disease are inevitable. “In the mildest cases – he adds Luisa Nicoof the API, Hypophosphatasia Patients Association – provokes only dental anomalies while in more serious ones it can even cause death. Our association wants to offer concrete help and strong support to patients and caregivers. API was born in the difficult moment that immediately preceded the start of the Covid-19 pandemic. This year we wanted to create a first communication initiative with the aim of increasing awareness of the pathology and our conditions of extreme suffering. With World Day we intend to make people understand how hypophosphatasia affects our lives and is a way to spread knowledge also among healthcare workers, family members and the media”.
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More information for doctors too
On the occasion of the World Day dedicated to the pathology, during the round table, organized thanks to the non-conditioning support of Alexion, Astra Zeneca Rare Disease, the API made requests starting from a better knowledge of the disease by the medical profession, more diagnoses implemented on time, multidisciplinary paths, which allow all clinical problems to be treated, and better access to available therapies.