Important notice. To access this clinic, a first visit at the General Endocrinology Outpatient Clinic is required.
Lipodystrophies are rare and complex syndromes, often little known, which can have important consequences for the patient's health and impair quality of life. Poor awareness of these diseases, mainly due to their low prevalence and their phenotypic heterogeneity, often leads to long delays in diagnosis.
The approach to a patient with lipodystrophy must be multidisciplinary from the onset of the disease, in order to define a specific clinical pathway that allows a correct and timely diagnosis, comprehensive care, guaranteed access to the best standards of care and continuous support for the patient and their family.
What is lipodystrophy
Lipodystrophy identifies a heterogeneous group of rare syndromes characterised by the loss of subcutaneous adipose tissue, which causes a proportional reduction in the hormone leptin and is associated with fat deposition in inappropriate sites. According to their cause, lipodystrophies are divided into genetic or acquired and, according to the degree of adipose tissue loss, into generalised or partial. Congenital forms include subtypes with recessive inheritance and others with dominant inheritance; acquired forms may have an autoimmune cause.
Four main categories are classically distinguished:
- Congenital generalised lipodystrophy
- Familial partial lipodystrophy
- Acquired generalised lipodystrophy
- Acquired partial lipodystrophy
Another subgroup includes progeroid forms, in which lipodystrophy is associated with signs of premature ageing. Most forms of lipodystrophy are associated with metabolic abnormalities that include insulin resistance, up to diabetes mellitus, and dyslipidaemia.
Complications
In patients with generalised lipodystrophy, congenital or acquired, the metabolic abnormalities associated with the disease can appear at a young age and cause kidney disease, cardiomyopathy, retinopathy, recurrent acute pancreatitis, and an enlarged fatty liver that may progress to steatohepatitis.
In partial forms, both familial and acquired, the onset and severity of complications vary and are closely linked to the type of syndrome.
How common it is
Lipodystrophy is an extremely rare condition, often undiagnosed because the different forms of the disease are poorly known. Given the complex symptoms and the difficulty of diagnosing such an uncommon and little-known disease, there are no accurate epidemiological data.
The worldwide prevalence of lipodystrophy syndromes, excluding lipodystrophy associated with HIV and its treatments, has been estimated at 3 cases per million people (0.2 cases per million for generalised forms and 2.8 cases for partial forms), but recent studies suggest that this is probably an underestimate.
The pathway for lipodystrophy syndromes
The diagnostic and therapeutic care pathway (PDTA) is a hospital-wide and regional reference for the diagnosis and treatment of non-HIV-related lipodystrophy syndromes.
The main purpose of the pathway is to take care of patients with lipodystrophy, giving them access to a Reference Centre with specific experience. The aims are to optimise the diagnostic process, to define the most suitable treatment strategy through a multidisciplinary approach that coordinates the specialists involved in treating this disease and its complications, and to improve the patient's quality of life through properly planned, specific follow-up.
- First outpatient visit. If the initial suspicion of lipodystrophy is confirmed, the patient continues along the pathway.
- Assessment as an outpatient Day Service (DSA). History, physical examination, endocrine and blood tests, genetic tests, biobanking of biological material; consultations at the dedicated clinic (dietitian, psychologist, psychiatrist).
- Instrumental tests. ECG, abdominal ultrasound, Fibroscan, thyroid ultrasound, screening for the complications of diabetes, total body DXA, MRI and X-ray of the long bones.
- External consultations. Diabetologist, cardiologist, neurologist, hepatologist, gynaecologist, ophthalmologist, nephrologist, paediatrician, plastic surgeon, radiologist, rheumatologist, sonographer.
- Treatment programme. Possible inclusion in clinical protocols; registration in the Tuscany Rare Diseases Registry and in the ECLip Registry.
- Follow-up visit.
Laboratory activity
Diagnosing lipodystrophy requires specific expertise and a multidisciplinary approach, in which the specialist laboratory plays a very important role. At the Chemistry and Endocrinology Laboratory of Pisa University Hospital, tests are carried out to complete the clinical assessment of patients with lipodystrophy, such as leptin and adiponectin, as well as the analysis of candidate genes when there is a clinical suspicion that the lipodystrophy has a genetic cause.
To date, many genes involved in the development of the disease have been identified. Family genetic screening is particularly important to find out whether other family members are affected by the disease or carry the mutation. Genotyping may include sequencing of a single gene when the disease phenotype is clear, of a group of genes, or of the whole exome when the patient's phenotype is subtle and difficult to identify.
The Laboratory provides genetic screening and leptin and adiponectin testing for the whole of Italy.
How to access
- Book a first outpatient endocrinology visit by calling the CUP booking centre, 050 995995.
- At the first visit specific tests are prescribed and you receive an appointment for a second visit at the Centre.
- During the second visit the most suitable diagnostic and treatment pathway is assessed.
Where and contacts
- Where
- Building 7: outpatient visits, consultations and Day Service
View the map - Telephone
- 050 995077
The Centre's activity is carried out in the facilities of the Endocrinology I Unit, Cisanello Hospital.
Accreditations and networks
The lipodystrophy clinic of the Endocrinology 1 Unit is a member of the European Consortium of Lipodystrophies (ECLip) and is part of the European Reference Networks (ERN) for rare endocrine conditions (Endo-ERN) and rare metabolic disorders (MetabERN).
The Centre is a member of the European Consortium of Lipodystrophies.
AILIP – Italian Lipodystrophy Association
AILIP aims to extend its support to anyone directly or indirectly affected by lipodystrophy:
- by working in practical ways to prevent, treat and solve the practical problems the disease brings;
- by offering moral support in managing and coping with the physical, psychological and social difficulties caused by the disease;
- by promoting projects that use modern technologies and drug treatments to make patients independent and self-sufficient, also by collaborating in research and trials with other organisations working for people with rare diseases.
The association's goal is to raise awareness among as many people as possible, because lipodystrophy is a little-known syndrome, with varied clinical manifestations and complex treatment, for which there is currently no treatment pathway leading to a complete cure.
Videos
Lipodystrophies, networking to give patients the best help. Interview with Prof. Ferruccio Santini (in Italian)
Watch on YouTubeLipodystrophy. The AILIP association's constant commitment alongside patients (in Italian)
Watch on YouTube
Videos by Osservatorio Malattie Rare (Rare Diseases Observatory).
Documents and useful links
For follow-up visits, patients already followed at the Centre can call 050 995077. How to book