Table 1.

Medical problems and number of mentions (total and by diagnostic group)

Medical problems	NF1	PSC	PAH	MFS	Total N
Aspects related to specific diagnoses
Tumours	7				7
Problems of the respiratory system			6		6
Thrombosis			4		4
Epilepsy	3				3
Aneurysms				2	2
Coeliac disease		2			2
Itching		2			2
Cholestasis		2			2
Incontinence	2				2
Low body weight				1	1
Restriction of renal function				1	1
Endocarditis				1	1
Iron deficiency		1			1
Neurological disturbances of the sensitivity	1				1
Brief reactive psychosis				1	1
Shared aspects named by two diagnostic groups
Fatigue		3	5		8
Hormonal abnormalities		5		3	8
Disfigurement	4			2	6
Neurological disturbances of the motor function	4		1		5
Damages from surgery	1			3	4
Skin problems	1			2	3
Shared aspects named by three diagnostic groups
Diarrhoea	1	9	1		11
Limited eyesight	2		1	5	8
Pain	1	1		3	5
Side effects of medication		1	1	1	3

Numbers represent the total number of mentions and are displayed for each diagnosis individually as well as across all diagnostic groups; grey cells represent categories, which were mentioned at least once in a diagnostic group.

MFS, Marfan syndrome; NF1, neurofibromatosis type 1; PAH, pulmonary arterial hypertension; PSC, primary sclerosing cholangitis.