Difficult-to-diagnose diseases

Disease Directory

Some of these diseases are rare. Others are common but easily missed, because their symptoms mirror something more familiar. Either way, patients often wait years for a diagnosis that names what is happening to them.

Volv Global works across a growing number of these conditions. Each disease page sets out the numbers behind it, the signs and symptoms most often missed, and how our work is helping close the gap to diagnosis and treatment.

Black and white portrait of a smiling man wearing a flat cap, a warm scarf, and a textured coat, standing against a light background.

Explore the disease areas

Fabry Disease

A rare, inherited condition that often goes unrecognised for over a decade, as symptoms mimic more common diseases.

Alpha-1 Antitrypsin Deficiency

A hereditary condition strongly linked to COPD and liver disease, with most people who carry it never diagnosed.

Acute Respiratory Distress Syndrome

A life-threatening lung condition that goes unrecognised in as many as 4 in 10 patients on the day it first appears.

Neuroendocrine Tumours

A group of slow-growing but serious tumours whose vague, wide-ranging symptoms often delay diagnosis by years.

Pompe Disease

A rare muscle-wasting condition whose milder, later-onset form can take five to twelve years to diagnose.

Huntington Disease

Huntington disease is a fatal inherited brain disorder causing movement, cognitive and psychiatric decline; most gene-positive carriers remain undiagnosed for years before any clinical sign appears.

WHIM Syndrome

WHIM syndrome is an ultra-rare inherited immune disorder causing neutropenia, warts and recurrent infections, split across four specialties so it is difficult to diagnose and often missed for years.

Transthyretin Cardiac Amyloidosis

ATTR-CM is a progressive infiltrative heart disease caused by misfolded transthyretin protein, routinely mistaken for common heart failure with preserved ejection fraction and left undiagnosed for years.

Spinal Muscular Atrophy

Spinal muscular atrophy destroys motor neurones from birth. Three therapies now exist, yet UK adults wait 25 years between diagnosis and treatment.

Friedreich Ataxia

Friedreich ataxia is a difficult-to-diagnose inherited mitochondrial disease causing progressive ataxia, cardiomyopathy and scoliosis, with symptoms split across specialities that delay a single-gene diagnosis.

Sjögren's Disease

Sjögren's Disease is a chronic autoimmune disease causing dry eyes and mouth, with sicca symptoms scattered across ophthalmology, dentistry and rheumatology so the underlying systemic cause often goes unrecognised.

X-Linked Hypophosphataemia

XLH is a hereditary phosphate-wasting disorder causing rickets in children and osteomalacia in adults; most adults were never genetically confirmed and remain difficult to find in claims data.

Clinical Development

Earlier triage of patients into a clinical trial before they are given traditional therapies.

Case studies