Referral to National Highly Specialised Care (NHV) in osteogenesis imperfecta (OI)

In order for the patient to be investigated at Uppsala University Hospital, a referral is required that summarises the patient's previous care for the OI diagnosis.  

Send the referral to the following address: 
OI-teamet, NHV OI 
Endokrin och diabetesmottagningen 
Ingång 40, 1 tr 
Akademiska Sjukhuset 
751 85 Uppsala

For patients domiciled outside the Uppsala region, a payment commitment/specialist care referral sent by post is always required. Travel to and from the visit is paid by the home region.

Genetic counselling

Clinical Genetics offers molecular genetic testing in cases of confirmed or suspected osteogenesis imperfecta. After referral, patients and families are welcome to come to the clinic for genetic counselling and for investigation of family members.  

For molecular genetic testing, 5-7 ml of venous blood in EDTA tubes is needed. The tube must not be frozen or centrifuged. Samples that cannot be dispatched on the same day should be stored in a refrigerator and dispatched as soon as possible (shelf life 5 days).  

Please label the tube with the patient's name and social security number. You send the tube and the referral to:

Klinisk genetik 
Akademiska Sjukhuset 
751 85 Uppsala

Molecular genetic diagnostics referral template

Contact us

OI coordinator: Malin Jerresand, telephone 018-611 43 87. Email Malin.

Professor, Head Physician Endocrine and Diabetes Clinic: Andreas Kindmark, switchboard 018-611 00 00. Email Andreas.

Associate Professor, Head Physician Clinical Geneticist: Eva-Lena Stattin, switchboard 018-611 00 00. Email Eva-Lena.

Patients who can be referred to us

According to Socialstyrelsen's decision, some care for osteogenesis imperfecta (OI) must be provided as National Highly Specialised Care (NHV). The NHV unit at Uppsala University Hospital is responsible for assessment, drug treatment and molecular genetic investigation and interpretation of analyses for adults with known or suspected OI. Patients over the age of 18 with congenital osteoporosis come to the clinic via referral from another care provider in the Uppsala region or from one of the following regions.

• Region Stockholm
• Region Uppsala
• Region Sörmland
• Region Gotland
• Region Värmland
• Region Örebro County
• Region Västmanland
• Region Dalarna
• Region Gävleborg
• Region Västernorrland
• Region Jämtland Härjedalen
• Region Västerbotten 
• Region Norrbotten. 

Other units in the country that provide National Highly Specialised Care (NHV) for OI are the University Hospital in Linköping (adults from mainly other regions) and the Astrid Lindgren Children's Hospital at the Karolinska University Hospital, Stockholm (children).

How we work

Our OI team includes doctors with different specialities (endocrinology, clinical genetics, orthopaedics), as well as physiotherapists, occupational therapists, psychologists and counsellors, if necessary. We also work closely with clinics that investigate and treat complications related to OI diagnosis, such as ear, nose and throat clinics, cardiologists and dentists.

After the first visit, an individual care plan is drawn up. The care plan contains care and treatment proposals that are reported to the patient and to the patient's local clinic for further follow-up. If follow-up takes place at Region Uppsala, a renewed payment commitment from the home region may be needed.

The NHV OI team offers, among other things, the following:

1. Team assessment in cases of confirmed or suspected osteogenesis imperfecta and investigation of severe osteoporosis where no other underlying causes have been found.
2. Medical assessment in case of confirmed OI or suspicion of OI.
3. Assessment of the need for, and initiation of, treatment with bone-specific medicines in patients with osteogenesis imperfecta.
4. Orthopaedic assessment, review of linked radiographs and possibly surgery and/or treatment recommendations in adults with milder forms of OI.
5. Molecular genetic investigation in cases of confirmed or suspected osteogenesis imperfecta. Genetic counselling and if pathogenic variant is identified, investigation of family members is offered.

Research on osteogenesis imperfecta

The focus of research on osteogenesis imperfecta at Uppsala University Hospital over the last 10 years has been:

• Studying the clinical spectrum of collagen mutations in Osteogenesis Imperfecta in Sweden.
• Studying how different mutations/polymorphisms in the collagen type I genes affect skeletal strength.
• Developing methods for allele-specific silencing of mutated collagen genes as a possible strategy for gene therapy in severe Osteogenesis Imperfecta.

These approaches, in cooperation with Astrid Lindgren Children's Hospital, have so far resulted in the establishment of a research cohort, in which new patients will continue to be prospectively enrolled. Translational studies in international collaboration have characterised new types of osteogenesis imperfecta with high bone density and, in addition, new previously undescribed clinical manifestations of unusual variants of osteogenesis imperfecta. In vitro studies have shown proof-of-concept that allele-specific silencing of the disease-causing allele can show normalising effects on cell parameters in bone cells from patients with the disease.

Clinical Genetics at Uppsala University Hospital has been conducting extensive research for several decades and in cooperation with national and international healthcare units and research groups. Research focuses on identifying genes, genetic variants and associated mechanisms. In the ongoing cooperation within the dysplasia group with endocrine and orthopaedic specialists, several studies have been carried out on rare cases of osteogenesis imperfecta, leading to joint publications.

Related information on external websites

Osteogenesis Imperfecta Federation Europe (oife.org)